Variant report

Variant	nsv10443
Chromosome Location	chr4:8731884-9371040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4051)
CpG islands
(count:183)
Chromatin interactive
region (count:84)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4051 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

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	chr4:8854977-8855363	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr4:8855081-8855244	K562	blood:	n/a	n/a
6	ATF3	chr4:8854995-8855309	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr4:9154337-9154466	K562	blood:	n/a	n/a
8	BACH1	chr4:8858777-8858889	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:8857632-8857756	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:8862941-8863709	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr4:8893693-8893726	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:8862268-8862627	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:8857031-8857091	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:8874989-8875170	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:8894725-8895016	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8861399-8861529	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	chr4:8875855-8875971	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr4:8873787-8873987	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr4:8859610-8859971	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr4:9170428-9170639	GM12878	blood:	n/a	n/a
22	BATF	chr4:9074518-9074764	GM12878	blood:	n/a	n/a
23	BATF	chr4:9027943-9028103	GM12878	blood:	n/a	n/a
24	BATF	chr4:8947373-8947544	GM12878	blood:	n/a	chr4:8947446-8947457
25	BATF	chr4:9050852-9051138	GM12878	blood:	n/a	n/a
26	BATF	chr4:9016052-9016284	GM12878	blood:	n/a	chr4:9016178-9016189
27	BATF	chr4:9019180-9019377	GM12878	blood:	n/a	n/a
28	BATF	chr4:9078532-9078952	GM12878	blood:	n/a	n/a
29	BATF	chr4:9078511-9078942	GM12878	blood:	n/a	n/a
30	BATF	chr4:9125270-9125602	GM12878	blood:	n/a	n/a
31	BATF	chr4:8947322-8947571	GM12878	blood:	n/a	chr4:8947446-8947457
32	BATF	chr4:9069049-9069339	GM12878	blood:	n/a	n/a
33	BATF	chr4:9160170-9160447	GM12878	blood:	n/a	n/a
34	BATF	chr4:8977979-8978183	GM12878	blood:	n/a	n/a
35	BATF	chr4:9167836-9168045	GM12878	blood:	n/a	n/a
36	BATF	chr4:9075036-9075407	GM12878	blood:	n/a	n/a
37	BATF	chr4:9155849-9156145	GM12878	blood:	n/a	n/a
38	BATF	chr4:8962972-8963416	GM12878	blood:	n/a	n/a
39	BATF	chr4:9059496-9059973	GM12878	blood:	n/a	n/a
40	BATF	chr4:8877064-8877233	GM12878	blood:	n/a	chr4:8877125-8877134
41	BATF	chr4:9155377-9155748	GM12878	blood:	n/a	n/a
42	BATF	chr4:8911262-8911579	GM12878	blood:	n/a	n/a
43	BATF	chr4:9075010-9075406	GM12878	blood:	n/a	n/a
44	BATF	chr4:9172276-9172654	GM12878	blood:	n/a	n/a
45	BATF	chr4:9027580-9027939	GM12878	blood:	n/a	n/a
46	BATF	chr4:9155872-9156200	GM12878	blood:	n/a	n/a
47	BATF	chr4:9093143-9093398	GM12878	blood:	n/a	n/a
48	BATF	chr4:9050779-9051110	GM12878	blood:	n/a	n/a
49	BATF	chr4:9167731-9168069	GM12878	blood:	n/a	n/a
50	BATF	chr4:9172306-9172654	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9352827-9352877	NB4	blood:	n/a
2	chr4:9355351-9355401	HAEpiC	amniotic membrane:	n/a
3	chr4:9352827-9352877	AG10803	skin:	n/a
4	chr4:9355372-9355422	NHDF-neo	bronchial:	n/a
5	chr4:9355372-9355422	HRE	kidney:	n/a
6	chr4:9352827-9352877	Hepatocyte	liver:	n/a
7	chr4:9352827-9352877	PANC-1	pancreas:	n/a
8	chr4:9352827-9352877	SK-N-SH	brain:	n/a
9	chr4:9355372-9355422	GM12891	blood:	n/a
10	chr4:9352827-9352877	HMEC	breast:	n/a
11	chr4:9355351-9355401	AG09319	gingival:	n/a
12	chr4:9352827-9352877	HNPCEpiC	eye:	n/a
13	chr4:9352827-9352877	K562	blood:	n/a
14	chr4:9355372-9355422	H1-hESC	embryonic stem cell:	embryo
15	chr4:9355372-9355422	BE2_C	brain:	n/a
16	chr4:9355351-9355401	AG04450	lung:	fetal
17	chr4:9355372-9355422	HNPCEpiC	eye:	n/a
18	chr4:9352827-9352877	ovcar-3	ovarian:	n/a
19	chr4:9355372-9355422	IMR90	lung:	fetal
20	chr4:9352827-9352877	GM06990	blood:	n/a
21	chr4:9355351-9355401	Jurkat	blood:	n/a
22	chr4:9355372-9355422	HRCEpiC	kidney:	n/a
23	chr4:9352827-9352877	NHBE	bronchial:	n/a
24	chr4:9355351-9355401	GM12892	blood:	n/a
25	chr4:9355351-9355401	HepG2	liver:	n/a
26	chr4:9355372-9355422	HepG2	liver:	n/a
27	chr4:9355372-9355422	NH-A	brain:	n/a
28	chr4:9355372-9355422	HL-60	blood:	n/a
29	chr4:9352827-9352877	BJ	skin:	n/a
30	chr4:9355351-9355401	A549	lung:	n/a
31	chr4:9355351-9355401	NB4	blood:	n/a
32	chr4:9352827-9352877	AG09319	gingival:	n/a
33	chr4:9355372-9355422	HCPEpiC	choroid plexus:	n/a
34	chr4:9355372-9355422	LNCaP	prostate:	n/a
35	chr4:9352827-9352877	HRE	kidney:	n/a
36	chr4:9355351-9355401	H1-hESC	embryonic stem cell:	embryo
37	chr4:9355372-9355422	SAEC	small airway:	n/a
38	chr4:9355351-9355401	GM19239	blood:	n/a
39	chr4:9355351-9355401	T-47D	breast:	n/a
40	chr4:9355351-9355401	SK-N-MC	brain:	n/a
41	chr4:9352827-9352877	GM12892	blood:	n/a
42	chr4:9352827-9352877	HepG2	liver:	n/a
43	chr4:9352827-9352877	RPTEC	kidney:	n/a
44	chr4:9355372-9355422	AG09309	skin:	n/a
45	chr4:9352827-9352877	GM12878	blood:	n/a
46	chr4:9355372-9355422	PANC-1	pancreas:	n/a
47	chr4:9355351-9355401	Caco-2	colon:	n/a
48	chr4:9355351-9355401	MCF-7	breast:	n/a
49	chr4:9355372-9355422	A549	lung:	n/a
50	chr4:9352827-9352877	HCM	heart:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:
2	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
3	chr4:8727792..8729635-chr4:8777761..8780174,2	MCF-7	breast:
4	chr4:8677416..8680217-chr4:8770931..8773550,2	K562	blood:
5	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
6	chr4:8836102..8838665-chr4:8853304..8855667,2	MCF-7	breast:
7	chr4:8738768..8740939-chr4:8744102..8745703,2	MCF-7	breast:
8	chr4:8720313..8722738-chr4:8763583..8766332,2	MCF-7	breast:
9	chr4:8689272..8690551-chr4:8887541..8888216,4	MCF-7	breast:
10	chr4:8667609..8668516-chr4:8887656..8888210,2	MCF-7	breast:
11	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
12	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
13	chr4:8595963..8596810-chr4:8919438..8920172,2	MCF-7	breast:
14	chr4:8889120..8890631-chr4:8897595..8899572,2	MCF-7	breast:
15	chr4:8854005..8855600-chr4:8858236..8860977,2	MCF-7	breast:
16	chr4:8649551..8650162-chr4:8919707..8920368,2	MCF-7	breast:
17	chr4:8732091..8733640-chr4:8882099..8884528,2	MCF-7	breast:
18	chr4:8743350..8745103-chr4:8747922..8749875,2	MCF-7	breast:
19	chr3:23845597..23847789-chr4:8879627..8881777,2	MCF-7	breast:
20	chr4:8689647..8690533-chr4:8887295..8888077,4	K562	blood:
21	chr4:8609226..8610032-chr4:8887698..8888205,2	MCF-7	breast:
22	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
23	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
24	chr4:8840268..8842596-chr4:8847457..8849928,2	MCF-7	breast:
25	chr4:8617932..8619527-chr4:8918338..8920672,2	MCF-7	breast:
26	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
27	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
28	chr4:8648999..8649710-chr4:8883912..8884471,2	MCF-7	breast:
29	chr4:9155081..9155863-chr4:79696788..79697581,2	HCT-116	colon:
30	chr4:8874973..8877231-chr4:8879936..8882236,2	K562	blood:
31	chr4:8887461..8890172-chr4:8891389..8893910,2	MCF-7	breast:
32	chr4:8840585..8842357-chr4:8849488..8852071,2	MCF-7	breast:
33	chr4:8853371..8854874-chr4:8860134..8861698,2	K562	blood:
34	chr4:8821716..8822276-chr4:8919332..8919908,2	MCF-7	breast:
35	chr4:8875731..8878681-chr4:8880679..8882236,2	K562	blood:
36	chr4:8701567..8704524-chr4:8729204..8732158,2	K562	blood:
37	chr4:8850333..8852547-chr4:8858670..8860391,2	MCF-7	breast:
38	chr4:8781022..8782784-chr4:8786066..8789038,2	K562	blood:
39	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
40	chr4:8816885..8819513-chr4:8838676..8840311,2	K562	blood:
41	chr4:8821602..8822427-chr4:8833992..8834964,2	MCF-7	breast:
42	chr4:8609002..8610016-chr4:8919155..8920078,6	MCF-7	breast:
43	chr4:8785973..8787809-chr4:8789851..8791798,2	MCF-7	breast:
44	chr4:8778847..8780683-chr4:8898052..8900103,2	MCF-7	breast:
45	chr4:8827560..8829523-chr4:8830683..8833064,2	K562	blood:
46	chr4:8847923..8849486-chr4:8849539..8851969,2	K562	blood:
47	chr4:8689949..8690495-chr4:8884145..8884993,2	MCF-7	breast:
48	chr4:8776407..8778118-chr4:8779629..8781870,2	MCF-7	breast:
49	chr4:8871272..8873108-chr4:8879640..8882009,2	MCF-7	breast:
50	chr4:8916094..8919081-chr4:8922098..8925711,3	K562	blood:

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

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

No data

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

Extended variants
information (count: 16223 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:16223 , 50 per page) page: 1 2 3 4 5 6 7 ... 325

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60805252	chr4:8731884-8731885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547371545	chr4:8731886-8731887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568244340	chr4:8731887-8731888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529106880	chr4:8731908-8731909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550613304	chr4:8731914-8731915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183967430	chr4:8731918-8731919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559351357	chr4:8732004-8732005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112721530	chr4:8732007-8732008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568991983	chr4:8732011-8732012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539391654	chr4:8732012-8732013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75526564	chr4:8732020-8732021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13120358	chr4:8732053-8732054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187850485	chr4:8732070-8732071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555813283	chr4:8732076-8732077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61305326	chr4:8732079-8732080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs60372178	chr4:8732080-8732081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556592862	chr4:8732110-8732111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577719437	chr4:8732142-8732143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544961712	chr4:8732149-8732150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111701365	chr4:8732198-8732199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199798712	chr4:8732204-8732205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57885403	chr4:8732208-8732209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192542871	chr4:8732214-8732215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540502004	chr4:8732220-8732221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75366842	chr4:8732246-8732247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529053840	chr4:8732250-8732251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550502340	chr4:8732271-8732272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562525811	chr4:8732330-8732331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533048140	chr4:8732343-8732344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144351107	chr4:8732346-8732347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184977046	chr4:8732352-8732353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78469825	chr4:8732371-8732372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549617841	chr4:8732408-8732409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78699310	chr4:8732423-8732424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61199074	chr4:8732449-8732450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140890235	chr4:8732452-8732453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577858598	chr4:8732475-8732476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534499079	chr4:8732483-8732484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538745935	chr4:8732503-8732504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553878201	chr4:8732504-8732505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572095981	chr4:8732523-8732524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114096553	chr4:8732531-8732532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146567597	chr4:8732558-8732559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561967309	chr4:8732572-8732573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144321967	chr4:8732618-8732619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544533864	chr4:8732642-8732643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562669000	chr4:8732651-8732652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554149890	chr4:8732675-8732676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376265131	chr4:8732676-8732677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533190079	chr4:8732697-8732698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	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:2002 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8728200-8732400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr4:8730400-8734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:8734400-8734800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8736800-8744800	Weak transcription	Right Atrium	heart
5	chr4:8737400-8737600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8737600-8741800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:8739200-8743000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:8740600-8740800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:8740600-8743200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:8740800-8741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:8741000-8741400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr4:8741200-8741400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:8741600-8742600	Enhancers	Fetal Brain Male	brain
14	chr4:8741600-8742800	Enhancers	Brain Germinal Matrix	brain
15	chr4:8741800-8742200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:8741800-8743000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:8741800-8743000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:8741800-8743600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:8742000-8742200	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr4:8742000-8742200	Enhancers	Esophagus	oesophagus
21	chr4:8742000-8742200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr4:8742000-8742400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:8742000-8742600	Bivalent Enhancer	Fetal Brain Female	brain
24	chr4:8742000-8742800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:8742600-8742800	Bivalent Enhancer	Fetal Brain Male	brain
26	chr4:8742600-8743000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:8742800-8743200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:8743000-8743400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8743000-8746000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:8743000-8748200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:8743200-8746400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:8743600-8743800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:8746000-8746400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8746400-8747200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:8746400-8748200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:8747800-8748200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:8748200-8748400	Enhancers	Esophagus	oesophagus
38	chr4:8748200-8748400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
39	chr4:8748200-8748400	ZNF genes & repeats	Gastric	stomach
40	chr4:8748200-8748600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8748200-8748600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr4:8748200-8748600	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr4:8748200-8748800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:8748200-8749000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8748400-8748600	Bivalent Enhancer	Fetal Brain Male	brain
46	chr4:8748400-8748600	Enhancers	Gastric	stomach
47	chr4:8748600-8750200	Weak transcription	Gastric	stomach
48	chr4:8748800-8749600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:8749000-8749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:8749600-8749800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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