Variant report

Variant	nsv1013308
Chromosome Location	chr4:87769694-87870168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3369)
CpG islands
(count:2685)
Chromatin interactive
region (count:118)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3369 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:87862309-87862454	K562	blood:	n/a	n/a
2	ARID3A	chr4:87849017-87849407	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:87816895-87817260	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:87855400-87855659	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:87854949-87856353	K562	blood:	n/a	n/a
6	ARID3A	chr4:87855861-87856442	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:87856980-87857924	K562	blood:	n/a	n/a
8	ARID3A	chr4:87849174-87849192	K562	blood:	n/a	n/a
9	ARID3A	chr4:87863095-87863954	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:87858194-87858218	K562	blood:	n/a	n/a
11	ARID3A	chr4:87863331-87864127	K562	blood:	n/a	n/a
12	ARID3A	chr4:87856997-87857844	HepG2	liver:	n/a	n/a
13	ARID3A	chr4:87848198-87848477	HepG2	liver:	n/a	n/a
14	ARID3A	chr4:87843493-87843868	HepG2	liver:	n/a	n/a
15	ATF1	chr4:87855236-87856071	K562	blood:	n/a	n/a
16	ATF1	chr4:87863354-87863788	K562	blood:	n/a	n/a
17	ATF1	chr4:87862269-87862566	K562	blood:	n/a	n/a
18	ATF2	chr4:87856619-87857482	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr4:87813275-87813880	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr4:87860207-87861524	GM12878	blood:	n/a	n/a
21	ATF2	chr4:87856132-87856395	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr4:87812785-87813210	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr4:87856925-87857755	GM12878	blood:	n/a	n/a
24	ATF2	chr4:87860520-87861503	GM12878	blood:	n/a	n/a
25	ATF2	chr4:87855462-87855977	GM12878	blood:	n/a	n/a
26	ATF2	chr4:87857290-87857747	GM12878	blood:	n/a	n/a
27	ATF2	chr4:87812810-87813224	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr4:87848252-87848836	K562	blood:	n/a	n/a
29	ATF3	chr4:87863323-87863712	K562	blood:	n/a	n/a
30	ATF3	chr4:87855783-87856298	K562	blood:	n/a	chr4:87856095-87856104 chr4:87856046-87856055
31	ATF3	chr4:87857116-87857754	K562	blood:	n/a	n/a
32	BACH1	chr4:87780602-87780641	K562	blood:	n/a	n/a
33	BACH1	chr4:87857237-87857640	K562	blood:	n/a	chr4:87857421-87857435
34	BACH1	chr4:87825408-87825470	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr4:87857014-87857889	H1-hESC	embryonic stem cell:	n/a	chr4:87857421-87857435
36	BACH1	chr4:87844411-87844418	K562	blood:	n/a	n/a
37	BACH1	chr4:87812952-87813629	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr4:87855742-87856572	H1-hESC	embryonic stem cell:	n/a	n/a
39	BATF	chr4:87856994-87857773	GM12878	blood:	n/a	chr4:87857425-87857435
40	BATF	chr4:87860762-87861248	GM12878	blood:	n/a	n/a
41	BCL11A	chr4:87860777-87861267	GM12878	blood:	n/a	n/a
42	BCL3	chr4:87860738-87861678	GM12878	blood:	n/a	n/a
43	BCL3	chr4:87857105-87857566	A549	lung:	n/a	n/a
44	BCL3	chr4:87857087-87857750	A549	lung:	n/a	n/a
45	BCL3	chr4:87855755-87856325	GM12878	blood:	n/a	n/a
46	BCLAF1	chr4:87857261-87857980	GM12878	blood:	n/a	n/a
47	BCLAF1	chr4:87855729-87856412	GM12878	blood:	n/a	n/a
48	BCLAF1	chr4:87857029-87857919	GM12878	blood:	n/a	n/a
49	BCLAF1	chr4:87860682-87861355	GM12878	blood:	n/a	n/a
50	BCLAF1	chr4:87855722-87856497	GM12878	blood:	n/a	n/a

(count:2685 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:87857031-87857081	PANC-1	pancreas:	n/a
2	chr4:87857031-87857081	PANC-1	pancreas:	n/a
3	chr4:87825274-87825324	NHBE	bronchial:	n/a
4	chr4:87855982-87856032	AG04449	skin:	fetal
5	chr4:87829966-87830016	HAEpiC	amniotic membrane:	n/a
6	chr4:87810926-87810976	K562	blood:	n/a
7	chr4:87855959-87856009	HRPEpiC	eye:	n/a
8	chr4:87816983-87817033	SAEC	small airway:	n/a
9	chr4:87770357-87770407	GM12891	blood:	n/a
10	chr4:87797502-87797552	Jurkat	blood:	n/a
11	chr4:87770744-87770794	AG10803	skin:	n/a
12	chr4:87857667-87857717	AG10803	skin:	n/a
13	chr4:87813066-87813116	NHBE	bronchial:	n/a
14	chr4:87770089-87770139	GM06990	blood:	n/a
15	chr4:87867378-87867428	K562	blood:	n/a
16	chr4:87855982-87856032	NT2-D1	testis:	n/a
17	chr4:87857305-87857355	HepG2	liver:	n/a
18	chr4:87829966-87830016	MCF-7	breast:	n/a
19	chr4:87867378-87867428	HCPEpiC	choroid plexus:	n/a
20	chr4:87797509-87797559	A549	lung:	n/a
21	chr4:87813407-87813457	T-47D	breast:	n/a
22	chr4:87856849-87856899	HNPCEpiC	eye:	n/a
23	chr4:87813935-87813985	HAEpiC	amniotic membrane:	n/a
24	chr4:87810926-87810976	HAEpiC	amniotic membrane:	n/a
25	chr4:87855937-87855987	Jurkat	blood:	n/a
26	chr4:87862626-87862676	NHBE	bronchial:	n/a
27	chr4:87816983-87817033	SK-N-SH_RA	brain:	n/a
28	chr4:87813407-87813457	BJ	skin:	n/a
29	chr4:87825274-87825324	NH-A	brain:	n/a
30	chr4:87856428-87856478	HCM	heart:	n/a
31	chr4:87797676-87797726	MCF-7	breast:	n/a
32	chr4:87855959-87856009	HIPEpiC	eye:	n/a
33	chr4:87816983-87817033	PANC-1	pancreas:	n/a
34	chr4:87813803-87813853	AG04449	skin:	fetal
35	chr4:87855959-87856009	HAEpiC	amniotic membrane:	n/a
36	chr4:87770586-87770636	HIPEpiC	eye:	n/a
37	chr4:87813277-87813327	NH-A	brain:	n/a
38	chr4:87813935-87813985	HEK293	kidney:	embryo
39	chr4:87797509-87797559	HCF	heart:	n/a
40	chr4:87816983-87817033	HAEpiC	amniotic membrane:	n/a
41	chr4:87829966-87830016	HMEC	breast:	n/a
42	chr4:87867378-87867428	NHDF-neo	bronchial:	n/a
43	chr4:87813585-87813635	NH-A	brain:	n/a
44	chr4:87857413-87857463	PrEC	prostate:	n/a
45	chr4:87855874-87855924	HRCEpiC	kidney:	n/a
46	chr4:87855972-87856022	GM12878	blood:	n/a
47	chr4:87797509-87797559	NH-A	brain:	n/a
48	chr4:87770744-87770794	NT2-D1	testis:	n/a
49	chr4:87813709-87813759	SKMC	muscle:	n/a
50	chr4:87855942-87855992	ovcar-3	ovarian:	n/a

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:87867715..87870000-chr4:87883212..87884800,2	K562	blood:
2	chr4:87867281..87868896-chr4:87929541..87932174,2	MCF-7	breast:
3	chr4:87822889..87824648-chr4:87830970..87833864,2	K562	blood:
4	chr4:87846751..87849645-chr4:87881394..87883091,2	K562	blood:
5	chr4:87859835..87862279-chr4:87865985..87868737,2	MCF-7	breast:
6	chr4:87864895..87867766-chr4:87868101..87870668,2	MCF-7	breast:
7	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
8	chr4:87840562..87842094-chr4:87856459..87858099,2	MCF-7	breast:
9	chr4:87849580..87851531-chr4:87852776..87855807,3	K562	blood:
10	chr4:87857968..87859669-chr4:87867267..87869680,2	MCF-7	breast:
11	chr4:87849244..87851531-chr4:87853008..87856022,4	K562	blood:
12	chr4:87769723..87774057-chr4:87775131..87777452,3	MCF-7	breast:
13	chr4:87843366..87844046-chr4:87927469..87928269,2	MCF-7	breast:
14	chr4:87859835..87862279-chr4:87865985..87868737,2	MCF-7	breast:
15	chr12:6832818..6833441-chr4:87812969..87813889,2	HCT-116	colon:
16	chr4:87855268..87857472-chr4:88140405..88143113,3	MCF-7	breast:
17	chr4:87419780..87420413-chr4:87816850..87817482,2	K562	blood:
18	chr4:87820850..87822534-chr4:87830208..87832118,2	MCF-7	breast:
19	chr4:87865631..87867433-chr4:87876659..87878502,2	K562	blood:
20	chr4:87514088..87517377-chr4:87799089..87802650,3	MCF-7	breast:
21	chr4:87836003..87837844-chr4:88123291..88126235,2	K562	blood:
22	chr4:87867208..87869675-chr4:87927269..87929156,3	MCF-7	breast:
23	chr4:87843422..87844230-chr4:88014418..88015268,4	MCF-7	breast:
24	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
25	chr4:87860517..87862879-chr4:87877524..87879606,2	K562	blood:
26	chr4:87842485..87845250-chr4:87926450..87930883,7	K562	blood:
27	chr4:87847594..87849419-chr4:87893253..87895027,2	MCF-7	breast:
28	chr4:87866844..87868969-chr4:88158554..88161014,2	K562	blood:
29	chr4:87864190..87869754-chr4:87925812..87929793,8	K562	blood:
30	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
31	chr20:46142556..46145108-chr4:87868263..87870801,2	MCF-7	breast:
32	chr4:87861604..87864179-chr4:87870978..87873929,2	K562	blood:
33	chr4:87801633..87803240-chr4:87812704..87814357,2	MCF-7	breast:
34	chr4:87443199..87444434-chr4:87816717..87817587,4	MCF-7	breast:
35	chr4:87443253..87444235-chr4:87816583..87817731,4	MCF-7	breast:
36	chr4:87855810..87856702-chr8:142011115..142011980,2	Hela-S3	cervix:
37	chr4:87831738..87834823-chr4:87927716..87932272,4	K562	blood:
38	chr4:87861386..87863585-chr4:87881486..87883645,2	K562	blood:
39	chr4:87820850..87822534-chr4:87830208..87832118,2	MCF-7	breast:
40	chr4:87846783..87849156-chr4:87926665..87928343,2	K562	blood:
41	chr4:87843404..87844119-chr4:87882783..87883663,2	MCF-7	breast:
42	chr4:87843259..87843829-chr4:88156202..88157194,2	MCF-7	breast:
43	chr4:87858518..87860018-chr4:87894461..87896898,2	K562	blood:
44	chr4:87854638..87857344-chr4:88139505..88141852,2	K562	blood:
45	chr4:87514124..87517809-chr4:87811943..87814768,5	MCF-7	breast:
46	chr4:87846087..87848184-chr4:88034153..88037077,2	K562	blood:
47	chr4:87813108..87815411-chr4:87815518..87817081,3	K562	blood:
48	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
49	chr4:87856637..87857264-chr5:38846046..38846599,2	Hela-S3	cervix:
50	chr4:87419183..87419967-chr4:87816677..87817515,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN13-1	chr4:87791344-87792176	NONHSAT097284
2	lnc-AFF1-3	chr4:87797491-87797805	NONHSAT097285
3	lnc-SLC10A6-2	chr4:87853374-87853471	NONHSAT097290
4	lnc-SLC10A6-2	chr4:87847380-87847478	NONHSAT097286
5	lnc-SLC10A6-1	chr4:87835853-87835970	NONHSAT097288
6	lnc-SLC10A6-2	chr4:87854547-87854694	NONHSAT097289
7	lnc-SLC10A6-2	chr4:87857140-87857330	NONHSAT097286
8	lnc-PTPN13-1	chr4:87792530-87792557	NONHSAT097284
9	lnc-SLC10A6-2	chr4:87854547-87854694	NONHSAT097291
10	lnc-SLC10A6-2	chr4:87843242-87844887	NONHSAT097289
11	lnc-SLC10A6-2	chr4:87855639-87855694	NONHSAT097292
12	lnc-SLC10A6-2	chr4:87846046-87847478	NONHSAT097291
13	lnc-SLC10A6-2	chr4:87855639-87856091	NONHSAT097289
14	lnc-SLC10A6-2	chr4:87856603-87856959	NONHSAT097293
15	lnc-SLC10A6-1	chr4:87834419-87834986	NONHSAT097288
16	lnc-SLC10A6-2	chr4:87854547-87854694	NONHSAT097286
17	lnc-SLC10A6-2	chr4:87854547-87854694	NONHSAT097290
18	lnc-SLC10A6-2	chr4:87857140-87857354	NONHSAT097293
19	lnc-SLC10A6-2	chr4:87854317-87854694	NONHSAT097292
20	lnc-SLC10A6-2	chr4:87857140-87857320	NONHSAT097290
21	lnc-SLC10A6-2	chr4:87812609-87812746	NONHSAT097286
22	lnc-SLC10A6-1	chr4:87835118-87835541	NONHSAT097288
23	lnc-SLC10A6-2	chr4:87855639-87856002	NONHSAT097291
24	lnc-SLC10A6-2	chr4:87809293-87809424	NONHSAT097286
25	lnc-SLC10A6-2	chr4:87846046-87847478	NONHSAT097290

No data

Variant related genes	Relation type
SLC10A6	TF binding region
ENSG00000251411	TF binding region
ENSG00000243312	TF binding region
ENSG00000250202	TF binding region
AFF1	TF binding region
C4orf36	TF binding region
SLC10A6	CpG island
ENSG00000251411	CpG island
ENSG00000243312	CpG island
ENSG00000250202	CpG island
AFF1	CpG island
C4orf36	CpG island
ENSG00000182150	chromatin interactions
ENSG00000111652	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000163633	chromatin interactions
ENSG00000145283	chromatin interactions
ENSG00000169398	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000150628	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000109339	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000145332	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000175611	chromatin interactions
ENSG00000163629	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000235043	chromatin interactions

Extended variants
information (count: 3675 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3675 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6531937	chr4:87769694-87769695	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141803260	chr4:87769725-87769726	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs56719771	chr4:87769800-87769801	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527897472	chr4:87769804-87769805	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201976818	chr4:87769847-87769848	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368944610	chr4:87769901-87769902	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs13106574	chr4:87769929-87769930	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs369966485	chr4:87769930-87769931	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144612845	chr4:87769944-87769945	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148050314	chr4:87769949-87769950	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150562318	chr4:87769981-87769982	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201038329	chr4:87770013-87770014	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs140433007	chr4:87770021-87770022	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144287611	chr4:87770024-87770025	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200164392	chr4:87770031-87770032	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs374782349	chr4:87770034-87770035	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369732989	chr4:87770053-87770054	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373465762	chr4:87770090-87770091	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547558889	chr4:87770102-87770103	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565694498	chr4:87770103-87770104	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536447180	chr4:87770113-87770114	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376640232	chr4:87770117-87770118	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569652383	chr4:87770127-87770128	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150585610	chr4:87770157-87770158	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200542431	chr4:87770172-87770173	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556189080	chr4:87770173-87770174	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200863577	chr4:87770188-87770189	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs202237551	chr4:87770199-87770200	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs144976549	chr4:87770236-87770237	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs17694522	chr4:87770252-87770253	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373115683	chr4:87770306-87770307	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200490962	chr4:87770307-87770308	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543223389	chr4:87770332-87770333	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376246941	chr4:87770357-87770358	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs557190675	chr4:87770358-87770359	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs561407334	chr4:87770365-87770366	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs114439274	chr4:87770393-87770394	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs543438775	chr4:87770407-87770408	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs4693788	chr4:87770462-87770463	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs532151452	chr4:87770486-87770487	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535997714	chr4:87770504-87770505	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559418480	chr4:87770510-87770511	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113846464	chr4:87770542-87770543	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs114508743	chr4:87770544-87770545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569613246	chr4:87770548-87770549	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115668594	chr4:87770560-87770561	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552065749	chr4:87770576-87770577	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182161804	chr4:87770577-87770578	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs6823793	chr4:87770598-87770599	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553941960	chr4:87770619-87770620	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Hepatocellular carcinoma	22267523	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2809 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87767000-87771000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:87768000-87770800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:87768200-87771400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:87768400-87770200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:87768800-87770000	Active TSS	Psoas Muscle	Psoas
6	chr4:87768800-87770400	Active TSS	Esophagus	oesophagus
7	chr4:87768800-87770600	Enhancers	HMEC	breast
8	chr4:87769000-87769800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:87769000-87770000	Active TSS	Right Atrium	heart
10	chr4:87769000-87770400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:87769000-87770800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr4:87769200-87769800	Enhancers	HSMMtube	muscle
13	chr4:87769200-87770200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:87769200-87770400	Active TSS	Left Ventricle	heart
15	chr4:87769200-87770600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:87769200-87771200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87769400-87769800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:87769400-87769800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:87769400-87769800	Bivalent Enhancer	Osteobl	bone
20	chr4:87769400-87770000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:87769400-87770000	Weak transcription	Hela-S3	cervix
22	chr4:87769400-87770200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:87769400-87770200	Enhancers	Brain Angular Gyrus	brain
24	chr4:87769400-87770200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:87769400-87770200	Enhancers	Right Ventricle	heart
26	chr4:87769400-87770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:87769400-87770400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:87769400-87770600	Enhancers	Spleen	Spleen
29	chr4:87769600-87769800	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:87769600-87770000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr4:87769600-87770200	Enhancers	Brain Substantia Nigra	brain
32	chr4:87769600-87770200	Enhancers	Placenta	Placenta
33	chr4:87769600-87770600	Enhancers	NHDF-Ad	bronchial
34	chr4:87769600-87771200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:87769600-87771600	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:87769600-87771600	Flanking Active TSS	NHEK	skin
37	chr4:87769600-87776800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:87769800-87770200	Enhancers	Stomach Smooth Muscle	stomach
39	chr4:87769800-87771600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:87769800-87778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:87770000-87770200	Enhancers	Brain Hippocampus Middle	brain
42	chr4:87770000-87770200	Flanking Active TSS	Psoas Muscle	Psoas
43	chr4:87770000-87770200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr4:87770000-87770200	Enhancers	Hela-S3	cervix
45	chr4:87770000-87770400	Flanking Active TSS	Right Atrium	heart
46	chr4:87770000-87771600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr4:87770200-87770400	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr4:87770200-87770400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr4:87770200-87770400	Active TSS	Stomach Smooth Muscle	stomach
50	chr4:87770200-87770600	Flanking Active TSS	Brain Angular Gyrus	brain

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