Variant report

Variant	nsv437386
Chromosome Location	chr4:69213885-69383357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2150)
CpG islands
(count:1527)
Chromatin interactive
region (count:69)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2150 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:69241809-69241916	K562	blood:	n/a	n/a
2	ARID3A	chr4:69241724-69242046	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69215712-69215831	K562	blood:	n/a	chr4:69215782-69215790
5	ARID3A	chr4:69215585-69216036	HepG2	liver:	n/a	chr4:69215782-69215790
6	ATF1	chr4:69226955-69227269	K562	blood:	n/a	n/a
7	ATF1	chr4:69215620-69216158	K562	blood:	n/a	chr4:69215838-69215852
8	ATF2	chr4:69274713-69275097	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:69271320-69273979	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:69215463-69216132	H1-hESC	embryonic stem cell:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
11	ATF2	chr4:69272567-69273233	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:69269806-69270384	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:69271370-69272360	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr4:69215580-69216036	GM12878	blood:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
15	ATF2	chr4:69274062-69274402	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:69275508-69277104	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:69215430-69216233	H1-hESC	embryonic stem cell:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
18	ATF2	chr4:69214914-69215381	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr4:69269850-69270608	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr4:69273374-69273928	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr4:69215452-69216129	GM12878	blood:	n/a	chr4:69215896-69215907 chr4:69215838-69215852
22	BACH1	chr4:69215560-69216041	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr4:69216585-69216762	K562	blood:	n/a	n/a
24	BACH1	chr4:69215649-69216046	K562	blood:	n/a	n/a
25	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
26	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
28	BCL11A	chr4:69233545-69233815	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCL11A	chr4:69233648-69233855	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL11A	chr4:69275877-69276040	H1-hESC	embryonic stem cell:	n/a	n/a
31	BCL11A	chr4:69273602-69273847	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCL3	chr4:69215396-69216133	A549	lung:	n/a	n/a
33	BCL3	chr4:69215550-69215963	A549	lung:	n/a	n/a
34	BCLAF1	chr4:69215363-69216070	GM12878	blood:	n/a	n/a
35	BCLAF1	chr4:69215374-69216170	GM12878	blood:	n/a	n/a
36	BHLHE40	chr4:69215129-69216171	HepG2	liver:	n/a	n/a
37	BHLHE40	chr4:69214925-69215208	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:69226735-69227270	HepG2	liver:	n/a	n/a
39	BHLHE40	chr4:69305163-69305286	GM12878	blood:	n/a	n/a
40	BHLHE40	chr4:69364150-69364589	GM12878	blood:	n/a	n/a
41	BHLHE40	chr4:69250331-69250703	K562	blood:	n/a	n/a
42	BHLHE40	chr4:69226696-69227246	K562	blood:	n/a	n/a
43	BHLHE40	chr4:69241718-69241986	HepG2	liver:	n/a	n/a
44	BHLHE40	chr4:69215383-69216210	K562	blood:	n/a	n/a
45	BHLHE40	chr4:69215413-69216189	GM12878	blood:	n/a	n/a
46	BHLHE40	chr4:69215541-69216054	A549	lung:	n/a	n/a
47	BHLHE40	chr4:69241744-69242010	GM12878	blood:	n/a	n/a
48	BHLHE40	chr4:69249117-69249120	K562	blood:	n/a	n/a
49	BHLHE40	chr4:69241727-69241977	K562	blood:	n/a	n/a
50	BRCA1	chr4:69215590-69216011	HepG2	liver:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69215786-69215836	HEK293	kidney:	embryo
2	chr4:69215305-69215355	NHDF-neo	bronchial:	n/a
3	chr4:69215786-69215836	HEK293	kidney:	embryo
4	chr4:69215305-69215355	NHDF-neo	bronchial:	n/a
5	chr4:69215920-69215970	SK-N-SH_RA	brain:	n/a
6	chr4:69215993-69216043	SKMC	muscle:	n/a
7	chr4:69215912-69215962	PrEC	prostate:	n/a
8	chr4:69312514-69312564	AG04450	lung:	fetal
9	chr4:69215675-69215725	SK-N-SH	brain:	n/a
10	chr4:69215318-69215368	U87	brain:	n/a
11	chr4:69215305-69215355	ovcar-3	ovarian:	n/a
12	chr4:69215675-69215725	Hela-S3	cervix:	n/a
13	chr4:69239481-69239531	SKMC	muscle:	n/a
14	chr4:69216111-69216161	NHBE	bronchial:	n/a
15	chr4:69216103-69216153	HEK293	kidney:	embryo
16	chr4:69381368-69381418	ovcar-3	ovarian:	n/a
17	chr4:69216103-69216153	Hepatocyte	liver:	n/a
18	chr4:69215675-69215725	SK-N-MC	brain:	n/a
19	chr4:69215896-69215946	Jurkat	blood:	n/a
20	chr4:69216103-69216153	Hela-S3	cervix:	n/a
21	chr4:69215909-69215959	Hela-S3	cervix:	n/a
22	chr4:69215920-69215970	ovcar-3	ovarian:	n/a
23	chr4:69312104-69312154	A549	lung:	n/a
24	chr4:69215265-69215315	IMR90	lung:	fetal
25	chr4:69313197-69313247	SAEC	small airway:	n/a
26	chr4:69215909-69215959	U87	brain:	n/a
27	chr4:69215912-69215962	CMK	blood:	n/a
28	chr4:69215305-69215355	AG10803	skin:	n/a
29	chr4:69215305-69215355	Hepatocyte	liver:	n/a
30	chr4:69215305-69215355	HEK293	kidney:	embryo
31	chr4:69215675-69215725	AoSMC	blood vessel:	n/a
32	chr4:69218719-69218769	HIPEpiC	eye:	n/a
33	chr4:69215265-69215315	ProgFib	skin:	n/a
34	chr4:69215901-69215951	BJ	skin:	n/a
35	chr4:69218719-69218769	LNCaP	prostate:	n/a
36	chr4:69216077-69216127	HAEpiC	amniotic membrane:	n/a
37	chr4:69215753-69215803	Jurkat	blood:	n/a
38	chr4:69216077-69216127	T-47D	breast:	n/a
39	chr4:69216103-69216153	RPTEC	kidney:	n/a
40	chr4:69216111-69216161	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:69312514-69312564	NT2-D1	testis:	n/a
42	chr4:69312104-69312154	GM19239	blood:	n/a
43	chr4:69239481-69239531	HEEpiC	esophagus:	n/a
44	chr4:69215786-69215836	HCF	heart:	n/a
45	chr4:69216018-69216068	AoSMC	blood vessel:	n/a
46	chr4:69215753-69215803	HNPCEpiC	eye:	n/a
47	chr4:69355121-69355171	HCF	heart:	n/a
48	chr4:69381368-69381418	HRPEpiC	eye:	n/a
49	chr4:69215920-69215970	PANC-1	pancreas:	n/a
50	chr4:69216103-69216153	AoSMC	blood vessel:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:69243264..69245251-chr4:69248916..69251183,2	K562	blood:
2	chr4:69215315..69216150-chr4:69241399..69242116,2	MCF-7	breast:
3	chr4:68793797..68796085-chr4:69232793..69234726,2	MCF-7	breast:
4	chr4:69227116..69229844-chr4:69232808..69235424,3	MCF-7	breast:
5	chr4:69215797..69217317-chr4:69361139..69363891,2	MCF-7	breast:
6	chr4:69308561..69313812-chr4:69314832..69320961,6	K562	blood:
7	chr4:69326187..69328959-chr4:69331153..69333884,3	MCF-7	breast:
8	chr4:69214168..69215842-chr4:69249504..69252039,2	MCF-7	breast:
9	chr4:69225977..69228923-chr4:69232908..69234757,2	MCF-7	breast:
10	chr4:69214165..69216661-chr4:69217166..69218936,2	MCF-7	breast:
11	chr4:69215623..69217257-chr4:69223391..69225244,2	MCF-7	breast:
12	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
13	chr4:69193668..69196027-chr4:69216381..69218945,2	K562	blood:
14	chr1:45986990..45987747-chr4:69215457..69216399,2	Hela-S3	cervix:
15	chr4:69215315..69216150-chr4:69241399..69242116,2	MCF-7	breast:
16	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
17	chr4:69243264..69245251-chr4:69248916..69251183,2	K562	blood:
18	chr4:69317417..69319881-chr4:69327468..69329389,2	MCF-7	breast:
19	chr4:69218330..69220312-chr4:69233366..69236029,2	MCF-7	breast:
20	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
21	chr4:69194867..69197488-chr4:69233410..69236002,2	MCF-7	breast:
22	chr4:69225977..69228923-chr4:69232908..69234757,2	MCF-7	breast:
23	chr4:69143211..69145096-chr4:69239415..69241951,2	K562	blood:
24	chr4:69210254..69212514-chr4:69233666..69236534,2	MCF-7	breast:
25	chr11:62609142..62609643-chr4:69215081..69215921,2	Hela-S3	cervix:
26	chr4:69188150..69190673-chr4:69212848..69214663,2	K562	blood:
27	chr4:69375140..69375898-chr4:69492301..69492816,2	MCF-7	breast:
28	chr4:69218178..69222853-chr4:69225128..69229971,4	MCF-7	breast:
29	chr4:69225743..69228378-chr4:69231035..69233208,2	K562	blood:
30	chr19:34663114..34663782-chr4:69227413..69228097,2	HCT-116	colon:
31	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
32	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
33	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
34	chr4:69212213..69214534-chr4:69225131..69226946,2	MCF-7	breast:
35	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
36	chr4:69218952..69221343-chr4:69221565..69223660,2	K562	blood:
37	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:
38	chr4:69218330..69220312-chr4:69233366..69236029,2	MCF-7	breast:
39	chr4:69218178..69222853-chr4:69225128..69229971,4	MCF-7	breast:
40	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:
41	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
42	chr4:69214293..69217151-chr4:69228471..69232453,4	MCF-7	breast:
43	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
44	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
45	chr4:69362843..69365661-chr4:69770776..69774163,4	MCF-7	breast:
46	chr4:69211727..69213859-chr4:69233011..69234860,2	MCF-7	breast:
47	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
48	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
49	chr4:69227116..69229844-chr4:69232808..69235424,3	MCF-7	breast:
50	chr4:69212213..69214534-chr4:69225131..69226946,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733
2	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733

No data

Variant related genes	Relation type
TMPRSS11E	TF binding region
MT2P1	TF binding region
YTHDC1	TF binding region
TMPRSS11E	CpG island
MT2P1	CpG island
YTHDC1	CpG island
ENSG00000160213	chromatin interactions
ENSG00000083896	chromatin interactions
ENSG00000257103	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000272626	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000087128	chromatin interactions
ENSG00000083312	chromatin interactions
ENSG00000162840	chromatin interactions
ENSG00000090621	chromatin interactions
ENSG00000249985	chromatin interactions

Extended variants
information (count: 6254 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:6254 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11727878	chr4:69213885-69213886	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550009068	chr4:69213903-69213904	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs141311838	chr4:69213928-69213929	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532477524	chr4:69213963-69213964	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557360731	chr4:69213976-69213977	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs28579260	chr4:69213986-69213987	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369815315	chr4:69214005-69214006	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs372679733	chr4:69214007-69214008	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs17089277	chr4:69214038-69214039	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534681063	chr4:69214047-69214048	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374996001	chr4:69214049-69214050	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571198288	chr4:69214054-69214055	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567821298	chr4:69214071-69214072	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs150253144	chr4:69214088-69214089	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs138383341	chr4:69214121-69214122	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191349475	chr4:69214158-69214159	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs576652397	chr4:69214167-69214168	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs547372232	chr4:69214210-69214211	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs149600226	chr4:69214250-69214251	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs558505506	chr4:69214262-69214263	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs114232966	chr4:69214382-69214383	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541091689	chr4:69214438-69214439	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561056373	chr4:69214458-69214459	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573738200	chr4:69214462-69214463	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs144287096	chr4:69214473-69214474	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs543243472	chr4:69214498-69214499	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183967213	chr4:69214507-69214508	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371216419	chr4:69214534-69214535	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs189813467	chr4:69214577-69214578	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369358324	chr4:69214654-69214655	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs537093703	chr4:69214729-69214730	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs376265264	chr4:69214768-69214769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559359046	chr4:69214822-69214823	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528105527	chr4:69214823-69214824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs148288862	chr4:69214854-69214855	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs568161886	chr4:69214864-69214865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs530667955	chr4:69214866-69214867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs17592868	chr4:69214926-69214927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs570256658	chr4:69214929-69214930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs553473416	chr4:69214949-69214950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs192729854	chr4:69214984-69214985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370438562	chr4:69215018-69215019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs7666993	chr4:69215034-69215035	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs375838416	chr4:69215062-69215063	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs115515502	chr4:69215139-69215140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs574822705	chr4:69215188-69215189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs543924723	chr4:69215189-69215190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs146386110	chr4:69215199-69215200	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs576985263	chr4:69215227-69215228	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs546080834	chr4:69215246-69215247	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69189200-69214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:69203600-69214000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:69204600-69214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:69209600-69214200	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:69211000-69216000	Active TSS	GM12878-XiMat	blood
6	chr4:69211800-69214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:69212000-69214000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr4:69212000-69214200	Weak transcription	Esophagus	oesophagus
9	chr4:69212200-69214200	Weak transcription	Left Ventricle	heart
10	chr4:69212200-69214200	Weak transcription	Lung	lung
11	chr4:69212200-69214200	Weak transcription	Pancreas	Pancrea
12	chr4:69212200-69214600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr4:69212200-69214600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:69212200-69214800	Weak transcription	Spleen	Spleen
15	chr4:69212200-69215000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:69212200-69216400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:69212400-69214600	Weak transcription	Gastric	stomach
18	chr4:69212400-69215800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:69212400-69216400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:69212600-69214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:69212600-69214200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr4:69212600-69214800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:69212600-69214800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr4:69212600-69215000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:69212600-69216000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:69212600-69216000	Active TSS	Fetal Intestine Large	intestine
27	chr4:69212600-69216400	Active TSS	Brain Germinal Matrix	brain
28	chr4:69212600-69216400	Active TSS	Fetal Kidney	kidney
29	chr4:69212800-69214200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:69212800-69214200	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr4:69212800-69214400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr4:69212800-69214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:69212800-69214800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr4:69212800-69214800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:69212800-69214800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:69212800-69216000	Active TSS	NHEK	skin
37	chr4:69212800-69216200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr4:69212800-69216200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr4:69212800-69216200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:69212800-69216200	Active TSS	Aorta	Aorta
41	chr4:69212800-69216200	Active TSS	Right Ventricle	heart
42	chr4:69212800-69216400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr4:69213000-69214000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:69213000-69214000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:69213000-69214000	Flanking Active TSS	Osteobl	bone
46	chr4:69213000-69214200	Weak transcription	Small Intestine	intestine
47	chr4:69213000-69214400	Flanking Active TSS	Fetal Lung	lung
48	chr4:69213000-69214400	Flanking Active TSS	HUVEC	blood vessel
49	chr4:69213000-69214600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:69213000-69214600	Flanking Active TSS	Fetal Brain Male	brain

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