Variant report

Variant	nsv878625
Chromosome Location	chr4:8683744-9371116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4397)
CpG islands
(count:1283)
Chromatin interactive
region (count:107)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4397 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:9154835-9154872	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:9155684-9155703	HepG2	liver:	n/a	n/a
3	ATF1	chr4:9154438-9155046	K562	blood:	n/a	n/a
4	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
5	ATF3	chr4:8854995-8855309	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
7	ATF3	chr4:8854977-8855363	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8861399-8861529	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:8869917-8869990	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr4:8689946-8690325	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8686570-8686574	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:9027584-9027898	GM12878	blood:	n/a	n/a
24	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
25	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
26	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
27	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a
28	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a
29	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
30	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
31	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
32	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457
33	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
34	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
35	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
36	BATF	chr4:9170428-9170639	GM12878	blood:	n/a	n/a
37	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
38	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
39	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
40	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
41	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
42	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
43	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
44	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
45	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
46	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
47	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
48	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
49	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
50	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8692854-8692904	NT2-D1	testis:	n/a
2	chr4:8702475-8702525	HEEpiC	esophagus:	n/a
3	chr4:8692854-8692904	NT2-D1	testis:	n/a
4	chr4:8702475-8702525	HEEpiC	esophagus:	n/a
5	chr4:8689852-8689902	AG09309	skin:	n/a
6	chr4:9352827-9352877	BJ	skin:	n/a
7	chr4:8689852-8689902	BE2_C	brain:	n/a
8	chr4:8690035-8690085	AG09319	gingival:	n/a
9	chr4:9352827-9352877	K562	blood:	n/a
10	chr4:8687955-8688005	Hepatocyte	liver:	n/a
11	chr4:8702475-8702525	NHBE	bronchial:	n/a
12	chr4:8702397-8702447	GM19239	blood:	n/a
13	chr4:8727474-8727524	HEEpiC	esophagus:	n/a
14	chr4:8687039-8687089	SK-N-SH_RA	brain:	n/a
15	chr4:8727474-8727524	GM19239	blood:	n/a
16	chr4:9355372-9355422	U87	brain:	n/a
17	chr4:8727474-8727524	GM12891	blood:	n/a
18	chr4:8702475-8702525	HCPEpiC	choroid plexus:	n/a
19	chr4:9371043-9371093	H1-hESC	embryonic stem cell:	embryo
20	chr4:9355372-9355422	HPAEpiC	pulmonary alveolar:	n/a
21	chr4:8693216-8693266	SAEC	small airway:	n/a
22	chr4:9355372-9355422	AoSMC	blood vessel:	n/a
23	chr4:8696173-8696223	GM06990	blood:	n/a
24	chr4:9371043-9371093	ovcar-3	ovarian:	n/a
25	chr4:8692935-8692985	A549	lung:	n/a
26	chr4:8702535-8702585	SK-N-SH_RA	brain:	n/a
27	chr4:9355372-9355422	SKMC	muscle:	n/a
28	chr4:8693216-8693266	SKMC	muscle:	n/a
29	chr4:9352827-9352877	HCM	heart:	n/a
30	chr4:9352827-9352877	GM12891	blood:	n/a
31	chr4:8692935-8692985	HCM	heart:	n/a
32	chr4:8702475-8702525	GM06990	blood:	n/a
33	chr4:9355351-9355401	CMK	blood:	n/a
34	chr4:8689975-8690025	HRE	kidney:	n/a
35	chr4:8702475-8702525	Hepatocyte	liver:	n/a
36	chr4:8693400-8693450	AG09309	skin:	n/a
37	chr4:9355372-9355422	SK-N-SH_RA	brain:	n/a
38	chr4:8693216-8693266	GM19239	blood:	n/a
39	chr4:8693400-8693450	MCF-7	breast:	n/a
40	chr4:8727474-8727524	ovcar-3	ovarian:	n/a
41	chr4:8702279-8702329	HNPCEpiC	eye:	n/a
42	chr4:8702397-8702447	HCPEpiC	choroid plexus:	n/a
43	chr4:8702279-8702329	HEK293	kidney:	embryo
44	chr4:8727474-8727524	RPTEC	kidney:	n/a
45	chr4:8727474-8727524	A549	lung:	n/a
46	chr4:8692828-8692878	Hepatocyte	liver:	n/a
47	chr4:8687039-8687089	HCM	heart:	n/a
48	chr4:8692854-8692904	SK-N-MC	brain:	n/a
49	chr4:8702279-8702329	AG10803	skin:	n/a
50	chr4:8689975-8690025	GM12892	blood:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:8841775..8843355-chr4:8852105..8854658,2	MCF-7	breast:
2	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
3	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
4	chr4:8682718..8684639-chr4:8704262..8707197,2	MCF-7	breast:
5	chr4:8483492..8484345-chr4:8919742..8920371,2	MCF-7	breast:
6	chr4:8852857..8854871-chr4:8860134..8862966,2	K562	blood:
7	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
8	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
9	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
10	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
11	chr4:8887296..8888159-chr4:8919813..8920332,3	MCF-7	breast:
12	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
13	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
14	chr4:8715458..8718338-chr4:8719661..8722261,4	MCF-7	breast:
15	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
16	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
17	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
18	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
19	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
20	chr4:8709795..8712592-chr4:8714328..8716618,2	MCF-7	breast:
21	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
22	chr4:8728690..8730772-chr4:10106539..10108201,2	K562	blood:
23	chr4:8875731..8878681-chr4:8880679..8882236,2	K562	blood:
24	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
25	chr4:9155081..9155863-chr4:79696788..79697581,2	HCT-116	colon:
26	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
27	chr4:8821372..8822221-chr4:8847653..8848611,2	MCF-7	breast:
28	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
29	chr4:8709792..8713378-chr4:8726638..8730577,3	K562	blood:
30	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
31	chr4:8836102..8838665-chr4:8853304..8855667,2	MCF-7	breast:
32	chr4:8894855..8897793-chr4:8901951..8903870,2	K562	blood:
33	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
34	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
35	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
36	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
37	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
38	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
39	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
40	chr4:8831480..8833563-chr4:8837142..8839666,2	MCF-7	breast:
41	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
42	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
43	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
44	chr4:8917493..8920418-chr4:8922098..8924605,3	K562	blood:
45	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:
46	chr4:8707817..8709520-chr4:8713049..8714741,2	MCF-7	breast:
47	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
48	chr4:8442251..8443878-chr4:8907020..8909362,2	MCF-7	breast:
49	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
50	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095123
2	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095113
3	lnc-HMX1-4	chr4:9036310-9037271	NONHSAT095124
4	lnc-ACOX3-3	chr4:8860441-8860823	ENSG00000258507.1
5	lnc-HMX1-1	chr4:8747123-8747482	ENSG00000250915
6	lnc-HMX1-4	chr4:9036251-9037271	NONHSAT095122
7	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095122
8	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095124
9	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095113
10	lnc-RP11-1286E23.8.1-1	chr4:9174843-9174908	XLOC_003448
11	lnc-HMX1-2	chr4:9022583-9022887	NONHSAT095120
12	lnc-HMX1-3	chr4:9053568-9053777	NONHSAT095125
13	lnc-HMX1-1	chr4:8749072-8749394	NONHSAT095114
14	lnc-HMX1-4	chr4:9065968-9066056	NONHSAT095123
15	lnc-HMX1-1	chr4:8747656-8747759	ENSG00000250915
16	lnc-ACOX3-3	chr4:8862375-8862553	ENSG00000258507.1
17	lnc-HMX1-1	chr4:8747672-8747863	NONHSAT095113
18	lnc-HMX1-1	chr4:8747165-8747482	NONHSAT095114
19	lnc-HMX1-1	chr4:8747656-8747863	NONHSAT095114
20	lnc-HMX1-4	chr4:9072963-9073140	NONHSAT095124
21	lnc-HMX1-4	chr4:9074628-9074691	NONHSAT095122
22	lnc-HMX1-4	chr4:9083355-9083373	NONHSAT095123
23	lnc-RP11-1286E23.8.1-1	chr4:9173538-9173895	XLOC_003448

No data

Variant related genes	Relation type
FAM86KP	TF binding region
ENSG00000258507	TF binding region
USP17L11	TF binding region
USP17L18	TF binding region
USP17L22	TF binding region
ENSG00000250342	TF binding region
ENSG00000271057	TF binding region
ENSG00000264372	TF binding region
ENSG00000251313	TF binding region
USP17L24	TF binding region
ENSG00000250804	TF binding region
USP17L29	TF binding region
USP17L13	TF binding region
HMX1	TF binding region
USP17L14P	TF binding region
ENSG00000197468	TF binding region
USP17L12	TF binding region
ENSG00000238726	TF binding region
USP17L19	TF binding region
USP17L9P	TF binding region
USP17L5	TF binding region
ALG1L14P	TF binding region
USP17L10	TF binding region
UNC93B8	TF binding region
USP17L30	TF binding region
ENSG00000250915	TF binding region
FAM90A26	TF binding region
USP17L16P	TF binding region
USP17L17	TF binding region
ENPP7P10	TF binding region
USP17L21	TF binding region
USP17L15	TF binding region
USP17L26	TF binding region
USP17L23	TF binding region
ENSG00000249347	TF binding region
USP17L25	TF binding region
USP17L6P	TF binding region
USP17L27	TF binding region
USP17L20	TF binding region
USP17L28	TF binding region
FAM86KP	CpG island
ENSG00000258507	CpG island
USP17L11	CpG island
USP17L18	CpG island
USP17L22	CpG island
ENSG00000250342	CpG island
ENSG00000271057	CpG island
ENSG00000264372	CpG island
ENSG00000251313	CpG island
USP17L24	CpG island
ENSG00000250804	CpG island
USP17L29	CpG island
USP17L13	CpG island
HMX1	CpG island
USP17L14P	CpG island
ENSG00000197468	CpG island
USP17L12	CpG island
ENSG00000238726	CpG island
USP17L19	CpG island
USP17L9P	CpG island
USP17L5	CpG island
ALG1L14P	CpG island
USP17L10	CpG island
UNC93B8	CpG island
USP17L30	CpG island
ENSG00000250915	CpG island
FAM90A26	CpG island
USP17L16P	CpG island
USP17L17	CpG island
ENPP7P10	CpG island
USP17L21	CpG island
USP17L15	CpG island
USP17L26	CpG island
USP17L23	CpG island
ENSG00000249347	CpG island
USP17L25	CpG island
USP17L6P	CpG island
USP17L27	CpG island
USP17L20	CpG island
USP17L28	CpG island
ENSG00000087008	chromatin interactions
ENSG00000250915	chromatin interactions
ENSG00000205959	chromatin interactions
ENSG00000258507	chromatin interactions
ENSG00000170142	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000260278	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000138756	chromatin interactions

Extended variants
information (count: 18620 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18620 , 50 per page) page: 1 2 3 4 5 6 7 ... 373

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13101654	chr4:8683744-8683745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143806427	chr4:8683787-8683788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575083030	chr4:8683788-8683789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191953111	chr4:8683795-8683796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533942124	chr4:8683807-8683808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182543273	chr4:8683808-8683809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73081913	chr4:8683864-8683865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187912557	chr4:8683879-8683880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555860617	chr4:8683911-8683912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577181675	chr4:8683913-8683914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544612433	chr4:8683923-8683924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563880506	chr4:8683924-8683925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74627268	chr4:8683935-8683936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79369511	chr4:8683944-8683945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561310153	chr4:8683962-8683963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149429705	chr4:8683972-8683973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531962387	chr4:8683979-8683980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193009667	chr4:8684094-8684095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144807614	chr4:8684115-8684116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571786066	chr4:8684156-8684157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115030556	chr4:8684159-8684160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375631769	chr4:8684165-8684166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74956664	chr4:8684202-8684203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185779001	chr4:8684217-8684218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148135504	chr4:8684264-8684265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566105391	chr4:8684270-8684271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116781126	chr4:8684378-8684379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141696080	chr4:8684404-8684405	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555660912	chr4:8684478-8684479	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567319333	chr4:8684492-8684493	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564087518	chr4:8684501-8684502	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555681059	chr4:8684547-8684548	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187258441	chr4:8684559-8684560	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577319896	chr4:8684562-8684563	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544748058	chr4:8684579-8684580	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75726698	chr4:8684582-8684583	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572043985	chr4:8684593-8684594	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542932615	chr4:8684595-8684596	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561649792	chr4:8684596-8684597	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531779204	chr4:8684607-8684608	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544040351	chr4:8684629-8684630	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538161146	chr4:8684696-8684697	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77999288	chr4:8684701-8684702	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145960029	chr4:8684703-8684704	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547945738	chr4:8684705-8684706	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192031158	chr4:8684706-8684707	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4235276	chr4:8684709-8684710	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548971610	chr4:8684734-8684735	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567559037	chr4:8684737-8684738	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184433952	chr4:8684766-8684767	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:2167 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8683200-8685200	Enhancers	Left Ventricle	heart
2	chr4:8684400-8684600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:8684400-8684600	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr4:8684400-8685000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:8684800-8685000	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr4:8686600-8694200	Weak transcription	Right Atrium	heart
7	chr4:8687800-8689000	Bivalent Enhancer	Right Ventricle	heart
8	chr4:8688200-8688400	Weak transcription	Gastric	stomach
9	chr4:8688400-8688600	Enhancers	Gastric	stomach
10	chr4:8688400-8688800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8688400-8689000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:8688600-8688800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8688600-8689000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:8688600-8689000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:8688600-8689000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:8688600-8689000	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr4:8688600-8689000	Flanking Active TSS	Gastric	stomach
18	chr4:8688600-8689000	Enhancers	K562	blood
19	chr4:8688600-8689200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:8688800-8689000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8688800-8689000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr4:8689200-8690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:8689600-8690200	Bivalent Enhancer	Brain Germinal Matrix	brain
24	chr4:8689600-8690800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:8689600-8692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:8689800-8690000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr4:8689800-8690000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr4:8689800-8690000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr4:8689800-8690000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:8689800-8690000	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr4:8689800-8690000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr4:8689800-8690000	Bivalent Enhancer	Fetal Brain Male	brain
33	chr4:8689800-8690000	Bivalent/Poised TSS	Fetal Brain Female	brain
34	chr4:8689800-8690000	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr4:8689800-8690200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:8689800-8690600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:8690000-8690200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
38	chr4:8690000-8690200	Bivalent Enhancer	Placenta	Placenta
39	chr4:8690000-8690200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr4:8690000-8690400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:8690400-8690600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:8690400-8691400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:8691800-8692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:8692200-8692400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr4:8692600-8696000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:8692800-8693000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:8696000-8697000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:8696800-8697000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:8697000-8700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:8699600-8701600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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