Variant report

Variant	esv3360327
Chromosome Location	chr1:155531253-155533876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:742)
CpG islands
(count:612)
Chromatin interactive
region (count:40)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155533549-155533937	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:155532749-155533151	K562	blood:	n/a	n/a
3	ATF2	chr1:155532606-155533273	GM12878	blood:	n/a	n/a
4	ATF2	chr1:155532596-155533085	GM12878	blood:	n/a	n/a
5	ATF3	chr1:155532730-155533195	A549	lung:	n/a	n/a
6	ATF3	chr1:155532408-155532643	K562	blood:	n/a	n/a
7	BACH1	chr1:155532778-155532882	K562	blood:	n/a	n/a
8	BACH1	chr1:155532759-155533072	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr1:155532878-155533223	GM12878	blood:	n/a	n/a
10	BATF	chr1:155531493-155531877	GM12878	blood:	n/a	n/a
11	BATF	chr1:155533838-155534037	GM12878	blood:	n/a	chr1:155533977-155533986
12	BATF	chr1:155533808-155534078	GM12878	blood:	n/a	chr1:155533977-155533986
13	BCL11A	chr1:155531434-155531867	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:155531636-155531849	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:155532354-155532627	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:155532829-155533461	GM12878	blood:	n/a	n/a
17	BCL3	chr1:155532730-155533206	A549	lung:	n/a	n/a
18	BCL3	chr1:155532620-155533261	A549	lung:	n/a	n/a
19	BCLAF1	chr1:155532662-155533379	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:155532699-155533297	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:155532654-155533066	A549	lung:	n/a	n/a
22	BHLHE40	chr1:155532292-155533226	GM12878	blood:	n/a	n/a
23	BHLHE40	chr1:155532334-155533231	HepG2	liver:	n/a	n/a
24	BHLHE40	chr1:155532288-155533222	K562	blood:	n/a	n/a
25	BRCA1	chr1:155532796-155533205	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:155532764-155533073	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:155532704-155533122	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:155532795-155533103	GM12878	blood:	n/a	n/a
29	CBX3	chr1:155531061-155531926	K562	blood:	n/a	n/a
30	CBX3	chr1:155532191-155534095	K562	blood:	n/a	n/a
31	CBX3	chr1:155532877-155533212	K562	blood:	n/a	n/a
32	CCNT2	chr1:155532298-155533256	K562	blood:	n/a	n/a
33	CEBPB	chr1:155533353-155533884	K562	blood:	n/a	n/a
34	CEBPB	chr1:155532780-155533635	GM12878	blood:	n/a	n/a
35	CEBPD	chr1:155532401-155533169	HepG2	liver:	n/a	n/a
36	CEBPD	chr1:155532932-155533171	HepG2	liver:	n/a	n/a
37	CEBPD	chr1:155532615-155533365	K562	blood:	n/a	n/a
38	CEBPD	chr1:155532087-155533267	K562	blood:	n/a	n/a
39	CEBPD	chr1:155532576-155532784	HepG2	liver:	n/a	n/a
40	CHD1	chr1:155533625-155533985	GM12878	blood:	n/a	n/a
41	CHD1	chr1:155532695-155533205	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr1:155532026-155533406	GM12878	blood:	n/a	n/a
43	CHD1	chr1:155531752-155534107	IMR90	lung:	n/a	n/a
44	CHD1	chr1:155533434-155533944	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr1:155531842-155532139	GM12878	blood:	n/a	n/a
46	CHD2	chr1:155532413-155533215	K562	blood:	n/a	n/a
47	CHD2	chr1:155532293-155533147	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr1:155532368-155533219	GM12878	blood:	n/a	n/a
49	CHD2	chr1:155531928-155532001	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr1:155532871-155533071	H1-hESC	embryonic stem cell:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155532722-155532772	NHBE	bronchial:	n/a
2	chr1:155532722-155532772	GM19239	blood:	n/a
3	chr1:155532722-155532772	NHBE	bronchial:	n/a
4	chr1:155532722-155532772	GM19239	blood:	n/a
5	chr1:155533016-155533066	T-47D	breast:	n/a
6	chr1:155532548-155532598	NT2-D1	testis:	n/a
7	chr1:155532423-155532473	NHBE	bronchial:	n/a
8	chr1:155532423-155532473	AG10803	skin:	n/a
9	chr1:155532423-155532473	ECC-1	luminal epithelium:	n/a
10	chr1:155532814-155532864	RPTEC	kidney:	n/a
11	chr1:155532716-155532766	PFSK-1	brain:	n/a
12	chr1:155532420-155532470	BE2_C	brain:	n/a
13	chr1:155532814-155532864	CMK	blood:	n/a
14	chr1:155532722-155532772	MCF10A-Er-Src	breast:	n/a
15	chr1:155532814-155532864	HL-60	blood:	n/a
16	chr1:155532814-155532864	BJ	skin:	n/a
17	chr1:155532716-155532766	HCT-116	colon:	n/a
18	chr1:155532814-155532864	HAEpiC	amniotic membrane:	n/a
19	chr1:155532548-155532598	HEEpiC	esophagus:	n/a
20	chr1:155533819-155533869	U87	brain:	n/a
21	chr1:155533405-155533455	IMR90	lung:	fetal
22	chr1:155532548-155532598	AG10803	skin:	n/a
23	chr1:155533819-155533869	ECC-1	luminal epithelium:	n/a
24	chr1:155532548-155532598	Caco-2	colon:	n/a
25	chr1:155532548-155532598	RPTEC	kidney:	n/a
26	chr1:155533405-155533455	HUVEC	blood vessel:	n/a
27	chr1:155532814-155532864	MCF10A-Er-Src	breast:	n/a
28	chr1:155532814-155532864	Hela-S3	cervix:	n/a
29	chr1:155532099-155532149	AG10803	skin:	n/a
30	chr1:155532716-155532766	CMK	blood:	n/a
31	chr1:155532716-155532766	GM19239	blood:	n/a
32	chr1:155532716-155532766	IMR90	lung:	fetal
33	chr1:155532099-155532149	GM19239	blood:	n/a
34	chr1:155533819-155533869	H1-hESC	embryonic stem cell:	embryo
35	chr1:155532548-155532598	NH-A	brain:	n/a
36	chr1:155533819-155533869	AG09309	skin:	n/a
37	chr1:155532814-155532864	AG10803	skin:	n/a
38	chr1:155532099-155532149	HEK293	kidney:	embryo
39	chr1:155533016-155533066	GM12891	blood:	n/a
40	chr1:155532099-155532149	Jurkat	blood:	n/a
41	chr1:155532716-155532766	HEEpiC	esophagus:	n/a
42	chr1:155533819-155533869	HUVEC	blood vessel:	n/a
43	chr1:155532814-155532864	AG09319	gingival:	n/a
44	chr1:155532814-155532864	IMR90	lung:	fetal
45	chr1:155532716-155532766	GM06990	blood:	n/a
46	chr1:155532722-155532772	PANC-1	pancreas:	n/a
47	chr1:155533405-155533455	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:155533819-155533869	BE2_C	brain:	n/a
49	chr1:155533405-155533455	T-47D	breast:	n/a
50	chr1:155532548-155532598	T-47D	breast:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155499625..155501625-chr1:155533032..155534566,2	MCF-7	breast:
2	chr1:155532724..155534552-chr1:155658209..155659716,2	K562	blood:
3	chr1:155532881..155533454-chrX:47518051..47518637,2	Hela-S3	cervix:
4	chr1:155241815..155243331-chr1:155532425..155534000,2	K562	blood:
5	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
6	chr1:155163156..155164893-chr1:155532696..155534228,2	K562	blood:
7	chr1:155531963..155532590-chr12:56551850..56552623,2	Hela-S3	cervix:
8	chr1:155533061..155533901-chr6:32939793..32940739,2	NB4	blood:
9	chr1:155532125..155532716-chr4:10117868..10118382,2	HCT-116	colon:
10	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
11	chr1:155256697..155258706-chr1:155531523..155534465,2	MCF-7	breast:
12	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
13	chr1:155532582..155533539-chr9:91926072..91926647,3	Hela-S3	cervix:
14	chr1:155532102..155532798-chr1:155657720..155658726,4	NB4	blood:
15	chr1:155532790..155533528-chr15:85291277..85292134,2	Hela-S3	cervix:
16	chr1:155532088..155532960-chr1:155658209..155658720,2	MCF-7	breast:
17	chr1:155520429..155523505-chr1:155527684..155531607,4	K562	blood:
18	chr1:155533136..155533702-chr6:26031941..26032663,2	Hela-S3	cervix:
19	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:
20	chr1:155532716..155533474-chr19:571939..572844,2	Hela-S3	cervix:
21	chr1:155444626..155447232-chr1:155532733..155534954,2	MCF-7	breast:
22	chr1:155533054..155535636-chr1:155540451..155542741,3	MCF-7	breast:
23	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
24	chr1:155224812..155227036-chr1:155533397..155535049,2	K562	blood:
25	chr1:155428479..155431081-chr1:155533087..155535825,2	K562	blood:
26	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
27	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
28	chr1:155230196..155232903-chr1:155533666..155535237,2	MCF-7	breast:
29	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
30	chr1:155530671..155532502-chr1:155535326..155537191,2	MCF-7	breast:
31	chr1:155532819..155534394-chr1:155543476..155545822,2	K562	blood:
32	chr1:155532717..155533287-chr17:66508208..66509143,2	Hela-S3	cervix:
33	chr1:155532081..155532969-chr1:155658202..155658825,5	HCT-116	colon:
34	chr1:155532611..155533379-chr11:17229191..17230143,2	Hela-S3	cervix:
35	chr1:155144807..155147212-chr1:155533013..155534550,2	K562	blood:
36	chr1:155532088..155534231-chr8:145750623..145753092,2	MCF-7	breast:
37	chr1:155522012..155524797-chr1:155533199..155535650,2	K562	blood:
38	chr1:155532787..155533321-chr1:155658619..155659301,2	Hela-S3	cervix:
39	chr1:154934930..154937896-chr1:155531349..155532999,2	K562	blood:
40	chr1:155532937..155533522-chr3:156544111..156544757,2	Hela-S3	cervix:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSTO1-1	chr1:155531821-155533775	ENSG00000235919.3
2	lnc-MSTO1-1	chr1:155532772-155533437	ENSG00000235919
3	lnc-MSTO1-1	chr1:155533041-155533735	ENSG00000235919
4	lnc-MSTO1-1	chr1:155531864-155532077	ENSG00000235919
5	lnc-MSTO1-1	chr1:155531772-155533735	NONHSAT006742
6	lnc-MSTO1-1	chr1:155531833-155532077	ENSG00000235919

No data

Variant related genes	Relation type
ASH1L-AS1	TF binding region
ASH1L	TF binding region
ASH1L-AS1	CpG island
ASH1L	CpG island
ENSG00000071127	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000267064	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000197980	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000070081	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000126756	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000163463	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000271267	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000263756	chromatin interactions
ENSG00000011405	chromatin interactions
ENSG00000254402	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000108946	chromatin interactions
ENSG00000132676	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367329	chr1:155531435-155531436	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs562818169	chr1:155531475-155531476	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs558321846	chr1:155531491-155531492	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs578140007	chr1:155531523-155531524	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs541981553	chr1:155531642-155531643	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs561093163	chr1:155531710-155531711	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs528281685	chr1:155531723-155531724	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs546480396	chr1:155531731-155531732	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs564884241	chr1:155531750-155531751	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs531961022	chr1:155531772-155531773	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs550587006	chr1:155531805-155531806	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs377014224	chr1:155531839-155531840	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs536316430	chr1:155531868-155531869	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs547982248	chr1:155531909-155531910	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs567030046	chr1:155531975-155531976	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs534433171	chr1:155531997-155531998	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs559288360	chr1:155532006-155532007	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs41264239	chr1:155532030-155532031	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs577637973	chr1:155532037-155532038	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs538225945	chr1:155532053-155532054	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
21	rs556494825	chr1:155532056-155532057	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs574746664	chr1:155532072-155532073	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
23	rs542271502	chr1:155532082-155532083	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs371059507	chr1:155532084-155532085	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs560425779	chr1:155532099-155532100	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
26	rs563890096	chr1:155532102-155532103	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
27	rs572697316	chr1:155532132-155532133	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs540065846	chr1:155532147-155532148	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
29	rs375365643	chr1:155532148-155532149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs564823511	chr1:155532164-155532165	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs41264241	chr1:155532180-155532181	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs532241191	chr1:155532200-155532201	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs550620960	chr1:155532234-155532235	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs562456636	chr1:155532238-155532239	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
35	rs376223217	chr1:155532247-155532248	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
36	rs529666565	chr1:155532271-155532272	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
37	rs12403379	chr1:155532316-155532317	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
38	rs12403380	chr1:155532325-155532326	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
39	rs534366400	chr1:155532329-155532330	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
40	rs34869594	chr1:155532332-155532333	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61812107	chr1:155532341-155532342	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
42	rs374122022	chr1:155532525-155532526	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
43	rs370662294	chr1:155532628-155532629	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
44	rs539224642	chr1:155532689-155532690	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
45	rs556590435	chr1:155532691-155532692	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
46	rs574769664	chr1:155532696-155532697	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
47	rs535529077	chr1:155532700-155532701	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
48	rs553828691	chr1:155532739-155532740	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
49	rs572241221	chr1:155532755-155532756	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
50	rs192789180	chr1:155532854-155532855	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	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
Ewing''s sarcoma	21437220	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
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
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
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
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155517000-155531400	Weak transcription	Esophagus	oesophagus
2	chr1:155518200-155531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155518600-155531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:155522200-155531400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:155526200-155531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:155526200-155531800	Weak transcription	Lung	lung
7	chr1:155526800-155531400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:155528800-155531400	Weak transcription	Placenta	Placenta
9	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
10	chr1:155529200-155531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:155530200-155534800	Active TSS	HSMMtube	muscle
12	chr1:155530400-155531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:155530400-155531400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:155530400-155531800	Active TSS	Brain Germinal Matrix	brain
15	chr1:155530400-155534400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:155530400-155534800	Active TSS	NHLF	lung
17	chr1:155530600-155531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:155530600-155531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:155530600-155531400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:155530600-155531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:155530600-155531400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:155530600-155531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:155530600-155531400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:155530600-155531400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:155530600-155531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:155530600-155531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:155530600-155531400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:155530600-155531400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:155530600-155531400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:155530600-155531400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:155530600-155531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:155530600-155531400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:155530600-155531400	Weak transcription	Colonic Mucosa	Colon
34	chr1:155530600-155531400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:155530600-155531400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:155530600-155531400	Weak transcription	Fetal Lung	lung
37	chr1:155530600-155531400	Weak transcription	Left Ventricle	heart
38	chr1:155530600-155531400	Weak transcription	Pancreas	Pancrea
39	chr1:155530600-155531400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:155530600-155531400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:155530600-155531400	Weak transcription	Right Atrium	heart
42	chr1:155530600-155531400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:155530600-155531400	Weak transcription	Stomach Mucosa	stomach
44	chr1:155530600-155531400	Weak transcription	A549	lung
45	chr1:155530600-155531400	Weak transcription	HSMM	muscle
46	chr1:155530600-155531600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:155530600-155531600	Weak transcription	Gastric	stomach
48	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:155530600-155531800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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