Variant report

Variant	esv3377930
Chromosome Location	chr1:151965153-151967701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:623)
CpG islands
(count:735)
Chromatin interactive
region (count:62)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:151964469-151965392	A549	lung:	n/a	n/a
2	ATF3	chr1:151964178-151965908	A549	lung:	n/a	n/a
3	ATF3	chr1:151967347-151967909	A549	lung:	n/a	n/a
4	BACH1	chr1:151966495-151966815	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:151964643-151966253	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr1:151967331-151967984	A549	lung:	n/a	n/a
7	BCL3	chr1:151967315-151967962	A549	lung:	n/a	n/a
8	BCL3	chr1:151964146-151966375	A549	lung:	n/a	chr1:151966339-151966352 chr1:151966156-151966165 chr1:151966351-151966364
9	BCL3	chr1:151962862-151966255	A549	lung:	n/a	chr1:151963188-151963197 chr1:151966156-151966165
10	BHLHE40	chr1:151965000-151965154	K562	blood:	n/a	n/a
11	BRCA1	chr1:151966232-151966262	HepG2	liver:	n/a	n/a
12	BRCA1	chr1:151966498-151966910	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr1:151964430-151965989	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr1:151967469-151967859	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr1:151966063-151966130	K562	blood:	n/a	n/a
16	CEBPB	chr1:151967294-151968021	A549	lung:	n/a	n/a
17	CEBPB	chr1:151964712-151965391	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr1:151964418-151965234	IMR90	lung:	n/a	chr1:151964670-151964683
19	CEBPB	chr1:151964645-151965320	A549	lung:	n/a	chr1:151964670-151964683
20	CEBPB	chr1:151964165-151965446	A549	lung:	n/a	chr1:151964670-151964683
21	CEBPB	chr1:151964483-151965861	HCT-116	colon:	n/a	chr1:151964670-151964683
22	CEBPB	chr1:151966449-151967147	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr1:151967515-151967926	A549	lung:	n/a	n/a
24	CEBPB	chr1:151964259-151965231	A549	lung:	n/a	chr1:151964670-151964683
25	CEBPB	chr1:151964296-151965570	Hela-S3	cervix:	n/a	chr1:151964670-151964683
26	CEBPB	chr1:151967461-151967895	Hela-S3	cervix:	n/a	n/a
27	CHD1	chr1:151963720-151967191	IMR90	lung:	n/a	n/a
28	CHD2	chr1:151964473-151966909	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr1:151967461-151967792	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr1:151964914-151965239	A549	lung:	n/a	n/a
31	CREB1	chr1:151964749-151965476	A549	lung:	n/a	n/a
32	CREB1	chr1:151965545-151966946	A549	lung:	n/a	n/a
33	CTBP2	chr1:151964776-151965460	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:151966040-151966190	GM12871	blood:	n/a	n/a
35	CTCF	chr1:151966500-151966650	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr1:151965920-151966070	AG09319	gingival:	n/a	chr1:151965989-151966002
37	CTCF	chr1:151965900-151966050	BJ	skin:	n/a	chr1:151965989-151966002
38	CTCF	chr1:151966760-151966910	GM12875	blood:	n/a	chr1:151966868-151966881
39	CTCF	chr1:151965900-151966050	AG04449	skin:	n/a	chr1:151965989-151966002
40	CTCF	chr1:151966600-151966750	HMEC	breast:	n/a	n/a
41	CTCF	chr1:151966580-151966730	AG04449	skin:	n/a	n/a
42	CTCF	chr1:151965940-151966090	HEK293	kidney:	n/a	chr1:151965989-151966002
43	CTCF	chr1:151965920-151966070	HRE	kidney:	n/a	chr1:151965989-151966002
44	CTCF	chr1:151966620-151966770	HepG2	liver:	n/a	n/a
45	CTCF	chr1:151965260-151965410	HepG2	liver:	n/a	n/a
46	CTCF	chr1:151966620-151966770	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:151966666-151966719	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:151965140-151965290	AG04449	skin:	n/a	n/a
49	CTCF	chr1:151965620-151965770	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr1:151966520-151966670	SK-N-SH_RA	brain:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151967023-151967073	SAEC	small airway:	n/a
2	chr1:151966104-151966154	GM19239	blood:	n/a
3	chr1:151967449-151967499	HRPEpiC	eye:	n/a
4	chr1:151967023-151967073	SAEC	small airway:	n/a
5	chr1:151966104-151966154	GM19239	blood:	n/a
6	chr1:151967449-151967499	HRPEpiC	eye:	n/a
7	chr1:151966207-151966257	AG04450	lung:	fetal
8	chr1:151966892-151966942	HIPEpiC	eye:	n/a
9	chr1:151966455-151966505	NH-A	brain:	n/a
10	chr1:151965283-151965333	HNPCEpiC	eye:	n/a
11	chr1:151966892-151966942	AG09309	skin:	n/a
12	chr1:151966808-151966858	Hepatocyte	liver:	n/a
13	chr1:151965869-151965919	AG10803	skin:	n/a
14	chr1:151966892-151966942	HEK293	kidney:	embryo
15	chr1:151967697-151967747	PFSK-1	brain:	n/a
16	chr1:151965283-151965333	HCM	heart:	n/a
17	chr1:151967021-151967071	LNCaP	prostate:	n/a
18	chr1:151967021-151967071	MCF10A-Er-Src	breast:	n/a
19	chr1:151966455-151966505	K562	blood:	n/a
20	chr1:151967697-151967747	HAEpiC	amniotic membrane:	n/a
21	chr1:151965283-151965333	NHDF-neo	bronchial:	n/a
22	chr1:151967449-151967499	AoSMC	blood vessel:	n/a
23	chr1:151966808-151966858	GM12892	blood:	n/a
24	chr1:151966792-151966842	ECC-1	luminal epithelium:	n/a
25	chr1:151966104-151966154	HEK293	kidney:	embryo
26	chr1:151966808-151966858	BE2_C	brain:	n/a
27	chr1:151967697-151967747	HRPEpiC	eye:	n/a
28	chr1:151966792-151966842	HCM	heart:	n/a
29	chr1:151966808-151966858	AG09319	gingival:	n/a
30	chr1:151967449-151967499	HCT-116	colon:	n/a
31	chr1:151967697-151967747	HCPEpiC	choroid plexus:	n/a
32	chr1:151965283-151965333	ProgFib	skin:	n/a
33	chr1:151965283-151965333	GM12878	blood:	n/a
34	chr1:151966792-151966842	HMEC	breast:	n/a
35	chr1:151965869-151965919	SK-N-SH_RA	brain:	n/a
36	chr1:151966808-151966858	AG10803	skin:	n/a
37	chr1:151966455-151966505	HIPEpiC	eye:	n/a
38	chr1:151967021-151967071	HRCEpiC	kidney:	n/a
39	chr1:151966892-151966942	GM06990	blood:	n/a
40	chr1:151966207-151966257	HepG2	liver:	n/a
41	chr1:151967021-151967071	HCPEpiC	choroid plexus:	n/a
42	chr1:151967023-151967073	AoSMC	blood vessel:	n/a
43	chr1:151966792-151966842	MCF10A-Er-Src	breast:	n/a
44	chr1:151966104-151966154	HRE	kidney:	n/a
45	chr1:151965869-151965919	NHDF-neo	bronchial:	n/a
46	chr1:151965869-151965919	Hepatocyte	liver:	n/a
47	chr1:151966207-151966257	SK-N-SH_RA	brain:	n/a
48	chr1:151966808-151966858	AG09309	skin:	n/a
49	chr1:151966104-151966154	MCF-7	breast:	n/a
50	chr1:151967449-151967499	SKMC	muscle:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:151861528..151864406-chr1:151963455..151965696,6	MCF-7	breast:
2	chr1:151964881..151965549-chr11:93861551..93862232,2	Hela-S3	cervix:
3	chr1:151940137..151941111-chr1:151965057..151965594,2	MCF-7	breast:
4	chr1:151965176..151965807-chr6:26197923..26198879,2	Hela-S3	cervix:
5	chr1:151965119..151967469-chr3:64007952..64010141,2	MCF-7	breast:
6	chr1:151965252..151965940-chr19:8578547..8579256,2	Hela-S3	cervix:
7	chr1:151965404..151966208-chr3:52321645..52322586,2	Hela-S3	cervix:
8	chr1:151964625..151965181-chr11:14664856..14665740,2	Hela-S3	cervix:
9	chr1:151964793..151965451-chr15:40986980..40987504,2	Hela-S3	cervix:
10	chr1:151964397..151965397-chr11:67888029..67888810,2	Hela-S3	cervix:
11	chr1:149856742..149859715-chr1:151963697..151967031,3	MCF-7	breast:
12	chr1:151965760..151966299-chr15:68132847..68133522,2	Hela-S3	cervix:
13	chr1:151965162..151965676-chr2:196521745..196522251,2	Hela-S3	cervix:
14	chr1:151964711..151965221-chr17:56708667..56709251,2	Hela-S3	cervix:
15	chr1:151964912..151965810-chr15:69706653..69707573,2	Hela-S3	cervix:
16	chr1:151964776..151965388-chr12:110939931..110940577,2	Hela-S3	cervix:
17	chr1:151964894..151965453-chr16:69599856..69600428,2	Hela-S3	cervix:
18	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
19	chr1:151965227..151965766-chr17:56708892..56709469,2	Hela-S3	cervix:
20	chr1:151965556..151966188-chr17:74732900..74733737,2	Hela-S3	cervix:
21	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
22	chr1:151965003..151965766-chr20:62496399..62497166,2	Hela-S3	cervix:
23	chr1:151965094..151965626-chr12:46777368..46777880,2	Hela-S3	cervix:
24	chr1:151965905..151966596-chr6:43596733..43597724,2	Hela-S3	cervix:
25	chr1:151966177..151966960-chr3:49203200..49203840,2	Hela-S3	cervix:
26	chr1:151964961..151965492-chr14:56046820..56047820,2	Hela-S3	cervix:
27	chr1:151965185..151965907-chr4:152610057..152611037,2	MCF-7	breast:
28	chr1:151965198..151966038-chr19:17952815..17953701,2	Hela-S3	cervix:
29	chr1:151963482..151966258-chr15:83734054..83736010,2	MCF-7	breast:
30	chr1:151965647..151966378-chr11:17229031..17229603,2	Hela-S3	cervix:
31	chr1:151965063..151965638-chr20:19472066..19473066,3	Hela-S3	cervix:
32	chr1:151964898..151965662-chr7:65958265..65958765,2	Hela-S3	cervix:
33	chr1:151964883..151965535-chr17:48944301..48945101,2	Hela-S3	cervix:
34	chr1:110527017..110527837-chr1:151965192..151965963,2	Hela-S3	cervix:
35	chr1:151518156..151521130-chr1:151964781..151966696,2	MCF-7	breast:
36	chr1:46152209..46153021-chr1:151964687..151965409,2	Hela-S3	cervix:
37	chr1:151966103..151966694-chr20:30194806..30195732,2	Hela-S3	cervix:
38	chr1:151965635..151966208-chr11:73693736..73694557,2	Hela-S3	cervix:
39	chr1:151965236..151965769-chr2:65356691..65357685,2	Hela-S3	cervix:
40	chr1:151803084..151806304-chr1:151962981..151966430,4	MCF-7	breast:
41	chr1:151966036..151966766-chr19:571248..572063,2	Hela-S3	cervix:
42	chr1:151965048..151965692-chr3:194304683..194305239,2	Hela-S3	cervix:
43	chr1:151965186..151965687-chr18:11365448..11365948,2	Hela-S3	cervix:
44	chr1:151965119..151965742-chr9:137000994..137001940,2	Hela-S3	cervix:
45	chr1:151965121..151965813-chr6:10694247..10695096,2	Hela-S3	cervix:
46	chr1:151965623..151966165-chr5:134181401..134182191,2	Hela-S3	cervix:
47	chr1:151966480..151967337-chr5:138629507..138630472,2	Hela-S3	cervix:
48	chr1:151964899..151965569-chr12:46661445..46662251,2	Hela-S3	cervix:
49	chr1:151965797..151966383-chr9:34048318..34048939,2	NB4	blood:
50	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-3	chr1:151967007-151967082	ENSG00000229021.2

No data

Variant related genes	Relation type
NBPF18P	TF binding region
S100A10	TF binding region
NBPF18P	CpG island
S100A10	CpG island
ENSG00000143365	chromatin interactions
ENSG00000229980	chromatin interactions
ENSG00000152270	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000168710	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000201134	chromatin interactions
ENSG00000101150	chromatin interactions
ENSG00000231770	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000186615	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000259426	chromatin interactions
ENSG00000039523	chromatin interactions
ENSG00000137434	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000102908	chromatin interactions
ENSG00000149926	chromatin interactions
ENSG00000118412	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000154945	chromatin interactions
ENSG00000137073	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000133250	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000064726	chromatin interactions
ENSG00000151164	chromatin interactions
ENSG00000011405	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000015479	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000129084	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000177352	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000115963	chromatin interactions
ENSG00000126777	chromatin interactions
ENSG00000105639	chromatin interactions
ENSG00000138069	chromatin interactions
ENSG00000234614	chromatin interactions
ENSG00000245849	chromatin interactions
ENSG00000196363	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000257261	chromatin interactions
ENSG00000137807	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000111845	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000175567	chromatin interactions
ENSG00000181904	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000168237	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000110218	chromatin interactions
ENSG00000051180	chromatin interactions
ENSG00000159445	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576891917	chr1:151965154-151965155	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
2	rs75497528	chr1:151965205-151965206	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
3	rs540139199	chr1:151965225-151965226	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
4	rs560422466	chr1:151965232-151965233	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
5	rs545855117	chr1:151965233-151965234	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
6	rs528875492	chr1:151965321-151965322	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
7	rs549003916	chr1:151965322-151965323	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
8	rs568931956	chr1:151965350-151965351	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
9	rs11459749	chr1:151965357-151965358	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
10	rs397726983	chr1:151965359-151965360	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
11	rs548010840	chr1:151965374-151965375	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
12	rs78976434	chr1:151965380-151965381	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
13	rs552537403	chr1:151965477-151965478	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
14	rs75140674	chr1:151965484-151965485	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
15	rs151266329	chr1:151965553-151965554	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
16	rs552175056	chr1:151965573-151965574	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
17	rs375818744	chr1:151965633-151965634	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
18	rs567194566	chr1:151965642-151965643	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
19	rs370722172	chr1:151965765-151965766	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
20	rs555347893	chr1:151965771-151965772	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
21	rs193100453	chr1:151965806-151965807	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
22	rs539379517	chr1:151965843-151965844	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs544317497	chr1:151965871-151965872	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs185167765	chr1:151965905-151965906	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
25	rs200150671	chr1:151965931-151965932	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
26	rs540465194	chr1:151965935-151965936	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
27	rs560175569	chr1:151965992-151965993	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs529197992	chr1:151966012-151966013	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs188433911	chr1:151966022-151966023	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs562489622	chr1:151966037-151966038	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
31	rs531398723	chr1:151966065-151966066	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs112770825	chr1:151966067-151966068	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	mRNA abundance
33	rs571415826	chr1:151966077-151966078	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
34	rs533354601	chr1:151966128-151966129	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs547180981	chr1:151966163-151966164	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs567008827	chr1:151966171-151966172	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs112776729	chr1:151966188-151966189	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs138208138	chr1:151966195-151966196	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs34329687	chr1:151966238-151966239	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs572535366	chr1:151966248-151966249	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs111637340	chr1:151966254-151966255	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs568896963	chr1:151966262-151966263	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs140456353	chr1:151966264-151966265	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs77638008	chr1:151966271-151966272	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs557824954	chr1:151966302-151966303	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs536837128	chr1:151966320-151966321	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs11542015	chr1:151966348-151966349	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs371002699	chr1:151966381-151966382	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs76593668	chr1:151966426-151966427	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs542957809	chr1:151966466-151966467	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151960400-151965600	Transcr. at gene 5' and 3'	NHEK	skin
2	chr1:151960400-151965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:151960400-151965800	Transcr. at gene 5' and 3'	A549	lung
4	chr1:151960600-151965400	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr1:151960600-151965600	Flanking Active TSS	NH-A	brain
6	chr1:151960800-151966000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:151961200-151965400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:151961800-151965200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:151962800-151965600	Active TSS	Psoas Muscle	Psoas
10	chr1:151962800-151965600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:151963200-151967000	Active TSS	Right Atrium	heart
12	chr1:151963400-151966800	Active TSS	Esophagus	oesophagus
13	chr1:151963600-151966800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:151963600-151967000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:151963600-151967000	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:151963800-151966000	Flanking Active TSS	Osteobl	bone
17	chr1:151964000-151966600	Active TSS	NHLF	lung
18	chr1:151964000-151966800	Active TSS	Fetal Intestine Large	intestine
19	chr1:151964000-151967400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:151964200-151965200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr1:151964200-151965400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr1:151964200-151965400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:151964200-151965600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr1:151964200-151965600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:151964200-151965600	Flanking Active TSS	Fetal Lung	lung
26	chr1:151964200-151966000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:151964200-151966000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:151964200-151966200	Flanking Active TSS	Placenta	Placenta
29	chr1:151964200-151966800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr1:151964400-151965200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr1:151964400-151965200	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:151964400-151965400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:151964400-151965400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:151964400-151965400	Bivalent Enhancer	Fetal Heart	heart
35	chr1:151964400-151965600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:151964400-151965800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:151964400-151966000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr1:151964400-151966200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:151964400-151966600	Active TSS	Colonic Mucosa	Colon
40	chr1:151964400-151966600	Active TSS	HSMM	muscle
41	chr1:151964400-151966800	Active TSS	Lung	lung
42	chr1:151964400-151966800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr1:151964400-151967000	Active TSS	Gastric	stomach
44	chr1:151964400-151967200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:151964400-151967200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:151964600-151965200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr1:151964600-151965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:151964600-151965400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:151964600-151965800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr1:151964600-151965800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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