Variant report

Variant	nsv1029910
Chromosome Location	chr8:43057794-43824036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5480)
CpG islands
(count:4154)
Chromatin interactive
region (count:367)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5480 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:43819080-43819187	K562	blood:	n/a	n/a
2	ATF1	chr8:43785555-43785668	K562	blood:	n/a	n/a
3	ATF1	chr8:43786577-43787136	K562	blood:	n/a	n/a
4	ATF1	chr8:43094373-43097182	K562	blood:	n/a	n/a
5	ATF1	chr8:43092711-43094031	K562	blood:	n/a	n/a
6	ATF1	chr8:43792645-43793396	K562	blood:	n/a	n/a
7	ATF2	chr8:43108749-43109645	GM12878	blood:	n/a	n/a
8	ATF2	chr8:43108629-43109665	GM12878	blood:	n/a	n/a
9	ATF3	chr8:43147119-43147233	K562	blood:	n/a	n/a
10	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
11	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
12	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
13	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
14	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
15	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
17	BACH1	chr8:43779446-43779599	K562	blood:	n/a	n/a
18	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
19	BACH1	chr8:43818947-43819136	K562	blood:	n/a	n/a
20	BACH1	chr8:43790059-43790248	K562	blood:	n/a	n/a
21	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
22	BACH1	chr8:43820379-43820751	K562	blood:	n/a	n/a
23	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
24	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
25	BATF	chr8:43798483-43799179	GM12878	blood:	n/a	n/a
26	BATF	chr8:43805930-43806139	GM12878	blood:	n/a	n/a
27	BATF	chr8:43761208-43761764	GM12878	blood:	n/a	n/a
28	BATF	chr8:43818959-43819224	GM12878	blood:	n/a	n/a
29	BATF	chr8:43783610-43783797	GM12878	blood:	n/a	n/a
30	BATF	chr8:43781687-43781911	GM12878	blood:	n/a	n/a
31	BATF	chr8:43764727-43764995	GM12878	blood:	n/a	n/a
32	BATF	chr8:43796300-43796503	GM12878	blood:	n/a	n/a
33	BATF	chr8:43760280-43760716	GM12878	blood:	n/a	n/a
34	BATF	chr8:43808539-43808737	GM12878	blood:	n/a	n/a
35	BATF	chr8:43795406-43795581	GM12878	blood:	n/a	n/a
36	BATF	chr8:43809217-43809758	GM12878	blood:	n/a	n/a
37	BATF	chr8:43801979-43802190	GM12878	blood:	n/a	n/a
38	BATF	chr8:43790975-43791219	GM12878	blood:	n/a	n/a
39	BATF	chr8:43109976-43110180	GM12878	blood:	n/a	n/a
40	BATF	chr8:43805912-43806229	GM12878	blood:	n/a	n/a
41	BATF	chr8:43796330-43796659	GM12878	blood:	n/a	n/a
42	BATF	chr8:43808822-43809213	GM12878	blood:	n/a	n/a
43	BATF	chr8:43797348-43797784	GM12878	blood:	n/a	n/a
44	BATF	chr8:43109104-43109534	GM12878	blood:	n/a	chr8:43109272-43109283
45	BATF	chr8:43802968-43803393	GM12878	blood:	n/a	n/a
46	BATF	chr8:43813396-43813769	GM12878	blood:	n/a	n/a
47	BATF	chr8:43820362-43821200	GM12878	blood:	n/a	n/a
48	BATF	chr8:43806260-43806536	GM12878	blood:	n/a	n/a
49	BATF	chr8:43809305-43809681	GM12878	blood:	n/a	n/a
50	BATF	chr8:43810032-43810203	GM12878	blood:	n/a	n/a

(count:4154 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:43402930-43402980	ovcar-3	ovarian:	n/a
2	chr8:43124515-43124565	AG09309	skin:	n/a
3	chr8:43101900-43101950	ProgFib	skin:	n/a
4	chr8:43132256-43132306	NT2-D1	testis:	n/a
5	chr8:43102008-43102058	HL-60	blood:	n/a
6	chr8:43275453-43275503	SK-N-MC	brain:	n/a
7	chr8:43402930-43402980	ovcar-3	ovarian:	n/a
8	chr8:43124515-43124565	AG09309	skin:	n/a
9	chr8:43101900-43101950	ProgFib	skin:	n/a
10	chr8:43132256-43132306	NT2-D1	testis:	n/a
11	chr8:43102008-43102058	HL-60	blood:	n/a
12	chr8:43275453-43275503	SK-N-MC	brain:	n/a
13	chr8:43132451-43132501	HCPEpiC	choroid plexus:	n/a
14	chr8:43059756-43059806	LNCaP	prostate:	n/a
15	chr8:43147397-43147447	HRPEpiC	eye:	n/a
16	chr8:43147564-43147614	NH-A	brain:	n/a
17	chr8:43147554-43147604	H1-hESC	embryonic stem cell:	embryo
18	chr8:43060278-43060328	HCT-116	colon:	n/a
19	chr8:43131431-43131481	U87	brain:	n/a
20	chr8:43213875-43213925	SKMC	muscle:	n/a
21	chr8:43101403-43101453	HUVEC	blood vessel:	n/a
22	chr8:43418406-43418456	ProgFib	skin:	n/a
23	chr8:43136162-43136212	A549	lung:	n/a
24	chr8:43147581-43147631	HEK293	kidney:	embryo
25	chr8:43417050-43417100	Jurkat	blood:	n/a
26	chr8:43059519-43059569	GM06990	blood:	n/a
27	chr8:43147439-43147489	GM12892	blood:	n/a
28	chr8:43404214-43404264	Hepatocyte	liver:	n/a
29	chr8:43417050-43417100	PrEC	prostate:	n/a
30	chr8:43417050-43417100	IMR90	lung:	fetal
31	chr8:43132451-43132501	SKMC	muscle:	n/a
32	chr8:43157775-43157825	HRPEpiC	eye:	n/a
33	chr8:43794595-43794645	Jurkat	blood:	n/a
34	chr8:43102605-43102655	PANC-1	pancreas:	n/a
35	chr8:43406411-43406461	Caco-2	colon:	n/a
36	chr8:43059519-43059569	BJ	skin:	n/a
37	chr8:43102008-43102058	PANC-1	pancreas:	n/a
38	chr8:43136445-43136495	HMEC	breast:	n/a
39	chr8:43061532-43061582	H1-hESC	embryonic stem cell:	embryo
40	chr8:43405739-43405789	H1-hESC	embryonic stem cell:	embryo
41	chr8:43132507-43132557	T-47D	breast:	n/a
42	chr8:43136445-43136495	A549	lung:	n/a
43	chr8:43060278-43060328	HEEpiC	esophagus:	n/a
44	chr8:43136445-43136495	HEEpiC	esophagus:	n/a
45	chr8:43060278-43060328	AG04449	skin:	fetal
46	chr8:43101900-43101950	HRE	kidney:	n/a
47	chr8:43136327-43136377	HCPEpiC	choroid plexus:	n/a
48	chr8:43401874-43401924	HMEC	breast:	n/a
49	chr8:43136327-43136377	HUVEC	blood vessel:	n/a
50	chr8:43131535-43131585	HRCEpiC	kidney:	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr11:123166252..123169232-chr8:43093408..43096526,3	K562	blood:
2	chr12:100708541..100710061-chr8:43093202..43095465,2	MCF-7	breast:
3	chr2:178637693..178638193-chr8:43096253..43096754,2	MCF-7	breast:
4	chr13:40006578..40007559-chr8:43092929..43093431,2	MCF-7	breast:
5	chr15:56952424..56953252-chr8:43092410..43092931,2	MCF-7	breast:
6	chr8:43092430..43092931-chrX:25127045..25127545,2	MCF-7	breast:
7	chr10:29692523..29694023-chr8:43093730..43096075,4	K562	blood:
8	chr13:36123141..36123661-chr8:43092410..43092930,2	MCF-7	breast:
9	chr8:43091431..43093289-chr9:85469654..85471154,2	MCF-7	breast:
10	chr4:53214789..53215289-chr8:43094562..43095232,2	MCF-7	breast:
11	chr8:43095226..43096912-chrX:124180022..124181542,2	MCF-7	breast:
12	chr4:120183641..120184141-chr8:43096068..43096724,2	MCF-7	breast:
13	chr5:170522286..170522807-chr8:43092410..43092910,2	MCF-7	breast:
14	chr17:59827450..59828180-chr8:43092410..43092930,2	MCF-7	breast:
15	chr11:123166232..123167752-chr8:43091411..43092930,2	MCF-7	breast:
16	chr17:79884582..79885478-chr8:43096392..43097259,2	Hela-S3	cervix:
17	chr2:109955404..109955904-chr8:43092929..43093789,2	MCF-7	breast:
18	chr11:115753180..115754160-chr8:43096224..43097245,3	MCF-7	breast:
19	chr5:25238045..25239045-chr8:43096224..43097412,5	MCF-7	breast:
20	chr3:189296244..189297090-chr8:43095093..43095730,2	MCF-7	breast:
21	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
22	chr11:115752160..115753660-chr8:43091429..43092930,2	K562	blood:
23	chr8:43092428..43092930-chr8:60597476..60597977,2	MCF-7	breast:
24	chr2:109955404..109956904-chr8:43092930..43094789,2	MCF-7	breast:
25	chr8:43094503..43095042-chrX:13246474..13246974,2	MCF-7	breast:
26	chr11:134217415..134218395-chr8:43092929..43093481,2	MCF-7	breast:
27	chr1:149857709..149858433-chr8:43092428..43093289,2	MCF-7	breast:
28	chr13:36123141..36123661-chr8:43092408..43092930,2	MCF-7	breast:
29	chr18:3904354..3904854-chr8:43092428..43092930,2	MCF-7	breast:
30	chr11:123166252..123169232-chr8:43093503..43097413,5	K562	blood:
31	chr13:36123141..36124141-chr8:43092410..43093431,4	MCF-7	breast:
32	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
33	chr4:101370568..101371068-chr8:43096224..43096730,2	MCF-7	breast:
34	chr3:74707451..74708953-chr8:43094695..43096593,2	MCF-7	breast:
35	chr1:188145534..188146514-chr8:43094651..43095896,3	MCF-7	breast:
36	chr12:60437721..60438429-chr8:43096750..43097250,2	MCF-7	breast:
37	chr12:77729288..77730268-chr8:43094498..43095218,2	MCF-7	breast:
38	chr3:74708453..74709431-chr8:43094542..43095524,2	MCF-7	breast:
39	chr1:188144535..188147516-chr8:43091410..43094431,3	K562	blood:
40	chr6:19042067..19042568-chr8:43094198..43094702,2	MCF-7	breast:
41	chr1:105685482..105686002-chr8:43092410..43092930,2	MCF-7	breast:
42	chr4:129728325..129729008-chr8:43092928..43093431,2	MCF-7	breast:
43	chr8:42948202..42949138-chr8:43130975..43131934,4	K562	blood:
44	chr20:52195113..52195833-chr8:43092929..43093765,2	MCF-7	breast:
45	chr4:41347457..41350457-chr8:43093153..43096753,6	MCF-7	breast:
46	chr6:143208324..143209824-chr8:43091411..43093269,2	MCF-7	breast:
47	chr8:43092429..43093269-chr8:43823893..43824414,2	MCF-7	breast:
48	chr1:105859080..105859580-chr8:43092430..43093289,2	MCF-7	breast:
49	chr7:133497538..133498465-chr8:43092409..43092910,2	MCF-7	breast:
50	chr4:120183141..120184141-chr8:43096226..43096751,3	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF170-5	chr8:43094654-43095063	NONHSAT126340
2	lnc-HGSNAT-7	chr8:43307943-43308055	NONHSAT126356
3	lnc-HGSNAT-7	chr8:43299491-43299558	NONHSAT126356
4	lnc-HGSNAT-7	chr8:43306599-43306780	NONHSAT126356
5	lnc-HGSNAT-7	chr8:43303948-43304047	NONHSAT126356
6	lnc-RNF170-8	chr8:43366963-43367176	NONHSAT126358
7	lnc-HGSNAT-4	chr8:43169091-43169343	NONHSAT126351
8	lnc-HGSNAT-2	chr8:43109018-43109232	NONHSAT126346
9	lnc-RNF170-1	chr8:43097496-43097508	XLOC_007077
10	lnc-HGSNAT-10	chr8:43394280-43394615	NONHSAT126362
11	lnc-RNF170-1	chr8:43096867-43097076	XLOC_007077
12	lnc-HGSNAT-2	chr8:43108875-43108959	NONHSAT126346
13	lnc-RNF170-1	chr8:43097495-43097508	NONHSAT126341
14	lnc-HGSNAT-9	chr8:43368786-43369564	NONHSAT126361
15	lnc-HGSNAT-7	chr8:43298045-43298224	NONHSAT126356
16	lnc-RNF170-9	chr8:43529413-43529734	NONHSAT126368
17	lnc-HGSNAT-6	chr8:43236787-43237091	NONHSAT126355
18	lnc-RNF170-1	chr8:43096866-43097076	NONHSAT126341
19	lnc-HGSNAT-5	chr8:43233441-43233652	NONHSAT126354
20	lnc-HGSNAT-12	chr8:43527966-43528218	NONHSAT126367
21	lnc-HGSNAT-8	chr8:43349080-43349905	NONHSAT126357
22	lnc-RNF170-5	chr8:43095855-43096073	NONHSAT126340

No data

Variant related genes	Relation type
ENSG00000253195	TF binding region
ENSG00000254145	TF binding region
ENSG00000250637	TF binding region
ENSG00000255166	TF binding region
ENSG00000201329	TF binding region
AFG3L2P1	TF binding region
ENSG00000253884	TF binding region
ENSG00000253186	TF binding region
ENSG00000254342	TF binding region
RN7SKP41	TF binding region
ENSG00000253486	TF binding region
ENSG00000253707	TF binding region
ENSG00000264094	TF binding region
ENSG00000253312	TF binding region
ENSG00000234713	TF binding region
CYP4F44P	TF binding region
VN1R46P	TF binding region
ENSG00000221295	TF binding region
ENSG00000253845	TF binding region
ENSG00000255497	TF binding region
ENSG00000253198	TF binding region
POTEA	TF binding region
ENSG00000253319	TF binding region
RNU6-104P	TF binding region
SNX18P27	TF binding region
ENSG00000254069	TF binding region
ENSG00000253195	CpG island
ENSG00000254145	CpG island
ENSG00000250637	CpG island
ENSG00000255166	CpG island
ENSG00000201329	CpG island
AFG3L2P1	CpG island
ENSG00000253884	CpG island
ENSG00000253186	CpG island
ENSG00000254342	CpG island
RN7SKP41	CpG island
ENSG00000253486	CpG island
ENSG00000253707	CpG island
ENSG00000264094	CpG island
ENSG00000253312	CpG island
ENSG00000234713	CpG island
CYP4F44P	CpG island
VN1R46P	CpG island
ENSG00000221295	CpG island
ENSG00000253845	CpG island
ENSG00000255497	CpG island
ENSG00000253198	CpG island
POTEA	CpG island
ENSG00000253319	CpG island
RNU6-104P	CpG island
SNX18P27	CpG island
ENSG00000254069	CpG island
ENSG00000185900	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000197324	chromatin interactions
ENSG00000136021	chromatin interactions
ENSG00000147526	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000167513	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000165102	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000159063	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000253486	chromatin interactions
ENSG00000238509	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000253748	chromatin interactions
ENSG00000253195	chromatin interactions
ENSG00000163466	chromatin interactions
ENSG00000267280	chromatin interactions

Extended variants
information (count: 33208 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:33208 , 50 per page) page: 1 2 3 4 5 6 7 ... 665

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531967582	chr8:43057798-43057799	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138613130	chr8:43057888-43057889	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576281567	chr8:43057910-43057911	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141634395	chr8:43057925-43057926	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555739014	chr8:43057931-43057932	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534903344	chr8:43057980-43057981	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187143372	chr8:43058001-43058002	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568261544	chr8:43058008-43058009	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78139290	chr8:43058031-43058032	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192217082	chr8:43058041-43058042	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576501457	chr8:43058064-43058065	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184540292	chr8:43058072-43058073	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538619546	chr8:43058080-43058081	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370085400	chr8:43058133-43058134	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190227844	chr8:43058165-43058166	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572325840	chr8:43058173-43058174	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541323081	chr8:43058248-43058249	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541557042	chr8:43058301-43058302	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13253966	chr8:43058385-43058386	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs574650304	chr8:43058433-43058434	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371176935	chr8:43058469-43058470	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563018526	chr8:43058486-43058487	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193256729	chr8:43058518-43058519	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146199503	chr8:43058604-43058605	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369589489	chr8:43058609-43058610	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185114255	chr8:43058684-43058685	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528124924	chr8:43058726-43058727	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189045167	chr8:43058742-43058743	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568375415	chr8:43058744-43058745	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201870703	chr8:43058775-43058776	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72582269	chr8:43058778-43058779	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35974518	chr8:43058779-43058780	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150470689	chr8:43058780-43058781	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199961505	chr8:43058782-43058783	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370420612	chr8:43058783-43058784	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200776379	chr8:43058786-43058787	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201916836	chr8:43058788-43058789	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71999969	chr8:43058795-43058796	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55994876	chr8:43058796-43058797	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533340376	chr8:43058806-43058807	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139209518	chr8:43058807-43058808	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532030724	chr8:43058872-43058873	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570587974	chr8:43058876-43058877	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181713922	chr8:43058902-43058903	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563868913	chr8:43059051-43059052	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558829336	chr8:43059055-43059056	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529600901	chr8:43059082-43059083	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572395493	chr8:43059128-43059129	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534705444	chr8:43059150-43059151	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554795094	chr8:43059180-43059181	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:2024 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43026400-43058800	Weak transcription	Small Intestine	intestine
2	chr8:43030400-43059200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:43042800-43058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:43043200-43057800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:43043200-43058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:43043600-43057800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr8:43043600-43058200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:43044200-43058200	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:43044400-43059400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr8:43044400-43059600	Strong transcription	Fetal Brain Female	brain
11	chr8:43044800-43057800	Strong transcription	Placenta	Placenta
12	chr8:43045600-43057800	Strong transcription	Brain Germinal Matrix	brain
13	chr8:43046000-43058200	Strong transcription	Brain Anterior Caudate	brain
14	chr8:43046800-43057800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:43046800-43058000	Weak transcription	Right Atrium	heart
16	chr8:43046800-43061000	Weak transcription	Stomach Mucosa	stomach
17	chr8:43047000-43057800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:43047000-43057800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:43047000-43057800	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:43047000-43058200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr8:43047200-43058400	Strong transcription	Fetal Stomach	stomach
22	chr8:43050200-43061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:43051000-43059600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:43051000-43059800	Strong transcription	Aorta	Aorta
25	chr8:43051800-43058200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:43053400-43057800	Weak transcription	HUVEC	blood vessel
27	chr8:43053400-43058400	Weak transcription	HepG2	liver
28	chr8:43053800-43058600	Weak transcription	Psoas Muscle	Psoas
29	chr8:43054200-43058600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:43055000-43058400	Weak transcription	GM12878-XiMat	blood
31	chr8:43055000-43060800	Weak transcription	Fetal Kidney	kidney
32	chr8:43055000-43064400	Weak transcription	HMEC	breast
33	chr8:43055200-43058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:43055400-43057800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:43055400-43058600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:43055400-43064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:43055600-43058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:43055800-43057800	Strong transcription	HSMM	muscle
39	chr8:43056000-43058800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:43056000-43059000	Weak transcription	A549	lung
41	chr8:43056400-43058000	Weak transcription	NHDF-Ad	bronchial
42	chr8:43056400-43058800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:43056400-43058800	Weak transcription	Dnd41	blood
44	chr8:43056400-43060800	Weak transcription	Fetal Heart	heart
45	chr8:43056400-43060800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:43056600-43058400	Weak transcription	Primary B cells from cord blood	blood
47	chr8:43056600-43059000	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:43056600-43059000	Weak transcription	HSMMtube	muscle
49	chr8:43056600-43060800	Weak transcription	Fetal Brain Male	brain
50	chr8:43056600-43063400	Weak transcription	NHEK	skin

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