Variant report

Variant	nsv539571
Chromosome Location	chr8:43060606-43333778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1420)
CpG islands
(count:2689)
Chromatin interactive
region (count:361)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:43092711-43094031	K562	blood:	n/a	n/a
2	ATF1	chr8:43094373-43097182	K562	blood:	n/a	n/a
3	ATF2	chr8:43108629-43109665	GM12878	blood:	n/a	n/a
4	ATF2	chr8:43108749-43109645	GM12878	blood:	n/a	n/a
5	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
6	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
7	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
8	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
9	ATF3	chr8:43147119-43147233	K562	blood:	n/a	n/a
10	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
11	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
13	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
14	BATF	chr8:43109976-43110180	GM12878	blood:	n/a	n/a
15	BATF	chr8:43109893-43110159	GM12878	blood:	n/a	n/a
16	BATF	chr8:43108719-43109805	GM12878	blood:	n/a	chr8:43109272-43109283
17	BATF	chr8:43109104-43109534	GM12878	blood:	n/a	chr8:43109272-43109283
18	BCL11A	chr8:43093044-43093315	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr8:43092760-43093018	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr8:43109237-43109516	GM12878	blood:	n/a	n/a
21	BCL11A	chr8:43109074-43109557	GM12878	blood:	n/a	n/a
22	BCL3	chr8:43061081-43061415	GM12878	blood:	n/a	n/a
23	BCL3	chr8:43109125-43109600	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:43095678-43096317	HepG2	liver:	n/a	n/a
25	BHLHE40	chr8:43135956-43136331	K562	blood:	n/a	n/a
26	BHLHE40	chr8:43147157-43147318	K562	blood:	n/a	chr8:43147193-43147202
27	BHLHE40	chr8:43096328-43097227	HepG2	liver:	n/a	n/a
28	BHLHE40	chr8:43135971-43136325	HepG2	liver:	n/a	n/a
29	BHLHE40	chr8:43109185-43109506	GM12878	blood:	n/a	n/a
30	BHLHE40	chr8:43135956-43136341	GM12878	blood:	n/a	n/a
31	BHLHE40	chr8:43094597-43095487	HepG2	liver:	n/a	n/a
32	BHLHE40	chr8:43092680-43093343	HepG2	liver:	n/a	n/a
33	BHLHE40	chr8:43093607-43094086	HepG2	liver:	n/a	n/a
34	BRCA1	chr8:43092712-43097416	HepG2	liver:	n/a	n/a
35	BRCA1	chr8:43092713-43097248	Hela-S3	cervix:	n/a	n/a
36	CBX3	chr8:43135925-43136324	K562	blood:	n/a	n/a
37	CBX3	chr8:43136043-43136239	K562	blood:	n/a	n/a
38	CCNT2	chr8:43136064-43136182	K562	blood:	n/a	n/a
39	CCNT2	chr8:43092712-43097183	K562	blood:	n/a	n/a
40	CEBPB	chr8:43222991-43222998	HepG2	liver:	n/a	n/a
41	CEBPB	chr8:43306501-43306786	IMR90	lung:	n/a	chr8:43306646-43306657 chr8:43306657-43306668
42	CEBPB	chr8:43221409-43221449	HepG2	liver:	n/a	n/a
43	CEBPB	chr8:43066294-43066622	Hela-S3	cervix:	n/a	chr8:43066425-43066436 chr8:43066424-43066437
44	CEBPB	chr8:43151840-43151928	A549	lung:	n/a	n/a
45	CEBPB	chr8:43306612-43306676	K562	blood:	n/a	chr8:43306646-43306657 chr8:43306657-43306668
46	CEBPB	chr8:43094978-43095337	HepG2	liver:	n/a	n/a
47	CEBPB	chr8:43303234-43303525	HepG2	liver:	n/a	chr8:43303409-43303422 chr8:43303410-43303421
48	CEBPB	chr8:43096381-43096773	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:43082900-43083044	K562	blood:	n/a	n/a
50	CEBPB	chr8:43221416-43221477	A549	lung:	n/a	n/a

(count:2689 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:43146894-43146944	H1-hESC	embryonic stem cell:	embryo
2	chr8:43131431-43131481	PrEC	prostate:	n/a
3	chr8:43102008-43102058	GM12892	blood:	n/a
4	chr8:43124515-43124565	NHDF-neo	bronchial:	n/a
5	chr8:43136445-43136495	Hela-S3	cervix:	n/a
6	chr8:43146894-43146944	H1-hESC	embryonic stem cell:	embryo
7	chr8:43131431-43131481	PrEC	prostate:	n/a
8	chr8:43102008-43102058	GM12892	blood:	n/a
9	chr8:43124515-43124565	NHDF-neo	bronchial:	n/a
10	chr8:43136445-43136495	Hela-S3	cervix:	n/a
11	chr8:43127238-43127288	T-47D	breast:	n/a
12	chr8:43136445-43136495	SK-N-SH	brain:	n/a
13	chr8:43136445-43136495	MCF-7	breast:	n/a
14	chr8:43125995-43126045	CMK	blood:	n/a
15	chr8:43147741-43147791	MCF-7	breast:	n/a
16	chr8:43147602-43147652	AG09319	gingival:	n/a
17	chr8:43136327-43136377	ovcar-3	ovarian:	n/a
18	chr8:43127238-43127288	SAEC	small airway:	n/a
19	chr8:43136327-43136377	HCPEpiC	choroid plexus:	n/a
20	chr8:43062063-43062113	NH-A	brain:	n/a
21	chr8:43132256-43132306	HCM	heart:	n/a
22	chr8:43125995-43126045	HEK293	kidney:	embryo
23	chr8:43147581-43147631	AG04449	skin:	fetal
24	chr8:43132507-43132557	H1-hESC	embryonic stem cell:	embryo
25	chr8:43146894-43146944	ovcar-3	ovarian:	n/a
26	chr8:43101622-43101672	NB4	blood:	n/a
27	chr8:43062063-43062113	SAEC	small airway:	n/a
28	chr8:43105801-43105851	HepG2	liver:	n/a
29	chr8:43132451-43132501	Caco-2	colon:	n/a
30	chr8:43131656-43131706	ovcar-3	ovarian:	n/a
31	chr8:43124515-43124565	HEEpiC	esophagus:	n/a
32	chr8:43126988-43127038	LNCaP	prostate:	n/a
33	chr8:43131260-43131310	BJ	skin:	n/a
34	chr8:43061532-43061582	HEEpiC	esophagus:	n/a
35	chr8:43127072-43127122	HCF	heart:	n/a
36	chr8:43105801-43105851	AG09309	skin:	n/a
37	chr8:43132256-43132306	AG04449	skin:	fetal
38	chr8:43102468-43102518	HNPCEpiC	eye:	n/a
39	chr8:43061532-43061582	GM06990	blood:	n/a
40	chr8:43147564-43147614	CMK	blood:	n/a
41	chr8:43131260-43131310	PFSK-1	brain:	n/a
42	chr8:43129726-43129776	ProgFib	skin:	n/a
43	chr8:43157775-43157825	HMEC	breast:	n/a
44	chr8:43146218-43146268	HepG2	liver:	n/a
45	chr8:43102468-43102518	BJ	skin:	n/a
46	chr8:43101403-43101453	SK-N-SH_RA	brain:	n/a
47	chr8:43132256-43132306	ovcar-3	ovarian:	n/a
48	chr8:43129726-43129776	Jurkat	blood:	n/a
49	chr8:43213875-43213925	GM12891	blood:	n/a
50	chr8:43102605-43102655	AG09309	skin:	n/a

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr11:115752160..115755160-chr8:43091411..43094429,4	MCF-7	breast:
2	chr5:22048636..22049616-chr8:43092409..43092910,2	MCF-7	breast:
3	chr11:115753160..115753680-chr8:43092410..43092928,2	MCF-7	breast:
4	chr1:105685482..105686002-chr8:43092410..43092930,2	MCF-7	breast:
5	chr3:3995189..3996691-chr8:43091408..43092911,2	MCF-7	breast:
6	chr5:86215746..86218336-chr8:43091410..43092910,2	MCF-7	breast:
7	chr3:155461931..155462531-chr8:43096224..43096734,2	MCF-7	breast:
8	chr7:133497538..133498465-chr8:43092409..43092910,2	MCF-7	breast:
9	chr5:50698537..50699270-chr8:43096068..43096912,2	MCF-7	breast:
10	chr3:74708433..74709433-chr8:43092430..43093431,3	MCF-7	breast:
11	chr4:53214809..53215789-chr8:43092259..43092908,2	MCF-7	breast:
12	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
13	chr5:86215746..86217246-chr8:43091259..43092910,2	MCF-7	breast:
14	chr2:58240285..58243265-chr8:43094257..43096723,2	K562	blood:
15	chr5:51232946..51233926-chr8:43095952..43096652,2	MCF-7	breast:
16	chr12:79782491..79782991-chr8:43092408..43093387,3	MCF-7	breast:
17	chr5:157041089..157041589-chr8:43094254..43095222,2	MCF-7	breast:
18	chr8:43094206..43095212-chrX:124181042..124181542,3	MCF-7	breast:
19	chr11:115752160..115753660-chr8:43091429..43092930,2	K562	blood:
20	chr8:43091410..43092930-chrX:25126045..25127562,2	MCF-7	breast:
21	chr13:36122161..36125141-chr8:43095234..43098089,2	MCF-7	breast:
22	chr6:143209324..143209824-chr8:43096754..43097413,2	MCF-7	breast:
23	chr8:43091411..43093800-chr8:43094414..43097056,10	K562	blood:
24	chr10:29693523..29694043-chr8:43096231..43096753,2	MCF-7	breast:
25	chr8:43091411..43094281-chrX:124180022..124183022,3	MCF-7	breast:
26	chr13:36123141..36123641-chr8:43092428..43092931,2	MCF-7	breast:
27	chr3:143572695..143573196-chr8:43096744..43097413,2	MCF-7	breast:
28	chr8:43091887..43095003-chr8:49719552..49722532,3	MCF-7	breast:
29	chr3:94332237..94332757-chr8:43096232..43096752,2	MCF-7	breast:
30	chr8:43092430..43092931-chrX:25127045..25127545,2	MCF-7	breast:
31	chr1:188144535..188147516-chr8:43091410..43094431,3	K562	blood:
32	chr15:77017797..77020777-chr8:43093705..43096561,2	K562	blood:
33	chr6:36980163..36981663-chr8:43092931..43096908,3	MCF-7	breast:
34	chr3:87910561..87911061-chr8:43092408..43093087,2	MCF-7	breast:
35	chr15:63466460..63467983-chr8:43091410..43092930,2	MCF-7	breast:
36	chr4:41347457..41350457-chr8:43093153..43096753,6	MCF-7	breast:
37	chr3:153077767..153078767-chr8:43095415..43095965,2	MCF-7	breast:
38	chr17:79884582..79885478-chr8:43096392..43097259,2	Hela-S3	cervix:
39	chr5:25238065..25238565-chr8:43092929..43093789,2	MCF-7	breast:
40	chr3:74708451..74708953-chr8:43095021..43095523,2	MCF-7	breast:
41	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
42	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
43	chr13:82081672..82083192-chr8:43091430..43093387,2	K562	blood:
44	chr8:43086135..43088781-chr8:43090762..43093391,2	K562	blood:
45	chr1:105859080..105859580-chr8:43092430..43093289,2	MCF-7	breast:
46	chr5:152062058..152063558-chr8:43091429..43092931,3	MCF-7	breast:
47	chr8:43092744..43093495-chr9:14244119..14245100,3	MCF-7	breast:
48	chr19:34854020..34854520-chr8:43096224..43096733,2	MCF-7	breast:
49	chr4:120182141..120185141-chr8:43091429..43094430,3	MCF-7	breast:
50	chr1:188145515..188146514-chr8:43092279..43093387,3	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF170-1	chr8:43097495-43097508	NONHSAT126341
2	lnc-HGSNAT-6	chr8:43236787-43237091	NONHSAT126355
3	lnc-HGSNAT-2	chr8:43108875-43108959	NONHSAT126346
4	lnc-RNF170-1	chr8:43096867-43097076	XLOC_007077
5	lnc-HGSNAT-7	chr8:43298045-43298224	NONHSAT126356
6	lnc-HGSNAT-7	chr8:43307943-43308055	NONHSAT126356
7	lnc-HGSNAT-5	chr8:43233441-43233652	NONHSAT126354
8	lnc-HGSNAT-4	chr8:43169091-43169343	NONHSAT126351
9	lnc-HGSNAT-2	chr8:43109018-43109232	NONHSAT126346
10	lnc-RNF170-1	chr8:43096866-43097076	NONHSAT126341
11	lnc-HGSNAT-7	chr8:43299491-43299558	NONHSAT126356
12	lnc-RNF170-5	chr8:43095855-43096073	NONHSAT126340
13	lnc-HGSNAT-7	chr8:43306599-43306780	NONHSAT126356
14	lnc-HGSNAT-7	chr8:43303948-43304047	NONHSAT126356
15	lnc-RNF170-1	chr8:43097496-43097508	XLOC_007077
16	lnc-RNF170-5	chr8:43094654-43095063	NONHSAT126340

No data

Variant related genes	Relation type
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
VN1R46P	TF binding region
ENSG00000255497	TF binding region
POTEA	TF binding region
RNU6-104P	TF binding region
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
VN1R46P	CpG island
ENSG00000255497	CpG island
POTEA	CpG island
RNU6-104P	CpG island
ENSG00000163466	chromatin interactions
ENSG00000238509	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000197324	chromatin interactions
ENSG00000167513	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000147526	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000185900	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000159063	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000136021	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000165102	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000253486	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000108592	chromatin interactions

Extended variants
information (count: 4400 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:4400 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557595054	chr8:43060619-43060620	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539209683	chr8:43060628-43060629	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539997281	chr8:43060636-43060637	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549552897	chr8:43060642-43060643	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553273133	chr8:43060675-43060676	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573503128	chr8:43060701-43060702	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75321355	chr8:43060706-43060707	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112559588	chr8:43060726-43060727	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190432537	chr8:43060737-43060738	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144829930	chr8:43060742-43060743	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117360321	chr8:43060744-43060745	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547136694	chr8:43060745-43060746	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147893683	chr8:43060803-43060804	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182976384	chr8:43060813-43060814	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113374002	chr8:43060837-43060838	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548267797	chr8:43060867-43060868	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549944102	chr8:43060900-43060901	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555341639	chr8:43060902-43060903	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371979991	chr8:43060911-43060912	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202083863	chr8:43060914-43060915	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557484644	chr8:43060960-43060961	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537063332	chr8:43060962-43060963	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566101262	chr8:43060965-43060966	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550722104	chr8:43060968-43060969	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571093846	chr8:43060995-43060996	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539721082	chr8:43061009-43061010	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534996193	chr8:43061025-43061026	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547315711	chr8:43061050-43061051	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567058533	chr8:43061051-43061052	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536062155	chr8:43061111-43061112	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555455271	chr8:43061152-43061153	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575433287	chr8:43061166-43061167	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537813015	chr8:43061171-43061172	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577084889	chr8:43061188-43061189	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557451959	chr8:43061193-43061194	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577596397	chr8:43061233-43061234	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546094399	chr8:43061234-43061235	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372882303	chr8:43061235-43061236	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540153764	chr8:43061240-43061241	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560056635	chr8:43061241-43061242	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199799327	chr8:43061285-43061286	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7839805	chr8:43061318-43061319	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542420177	chr8:43061355-43061356	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370257630	chr8:43061388-43061389	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372696287	chr8:43061389-43061390	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578138586	chr8:43061390-43061391	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377036398	chr8:43061402-43061403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562236915	chr8:43061433-43061434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192933352	chr8:43061438-43061439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182359919	chr8:43061494-43061495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	22522925	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

Chromatin state (count:572 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43046800-43061000	Weak transcription	Stomach Mucosa	stomach
2	chr8:43050200-43061200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:43055000-43060800	Weak transcription	Fetal Kidney	kidney
4	chr8:43055000-43064400	Weak transcription	HMEC	breast
5	chr8:43055400-43064200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:43056400-43060800	Weak transcription	Fetal Heart	heart
7	chr8:43056400-43060800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:43056600-43060800	Weak transcription	Fetal Brain Male	brain
9	chr8:43056600-43063400	Weak transcription	NHEK	skin
10	chr8:43056800-43061200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:43057000-43060800	Weak transcription	Fetal Lung	lung
12	chr8:43057000-43061000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:43057400-43060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:43057400-43061000	Weak transcription	Primary T cells from cord blood	blood
15	chr8:43057400-43061200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:43057600-43060800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:43057600-43060800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:43057600-43060800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:43057600-43060800	Weak transcription	Thymus	Thymus
20	chr8:43057600-43061000	Weak transcription	Liver	Liver
21	chr8:43057600-43061000	Weak transcription	Esophagus	oesophagus
22	chr8:43057600-43061200	Weak transcription	Right Ventricle	heart
23	chr8:43057600-43061200	Weak transcription	Spleen	Spleen
24	chr8:43057600-43061400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:43057600-43061400	Weak transcription	Ovary	ovary
26	chr8:43057600-43061400	Weak transcription	NHLF	lung
27	chr8:43057600-43061600	Weak transcription	Gastric	stomach
28	chr8:43057600-43062600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:43057600-43063000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:43057600-43063800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:43057800-43061000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:43057800-43061400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:43057800-43061400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:43058200-43061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:43058200-43063000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:43058600-43061000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:43058600-43062400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:43058600-43063000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:43058600-43063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:43058800-43062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:43059200-43061600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:43059400-43060800	Strong transcription	Brain Germinal Matrix	brain
43	chr8:43059400-43061000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:43059400-43061400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr8:43059400-43063800	Weak transcription	HSMM	muscle
46	chr8:43059600-43060800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:43059600-43061200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:43059600-43062400	Weak transcription	Fetal Brain Female	brain
49	chr8:43059600-43064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:43059800-43061000	Weak transcription	Pancreas	Pancrea

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