Variant report

Variant	nsv539573
Chromosome Location	chr8:43065940-43729296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1918)
CpG islands
(count:3419)
Chromatin interactive
region (count:366)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1918 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

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	chr8:43108749-43109645	GM12878	blood:	n/a	n/a
4	ATF2	chr8:43108629-43109665	GM12878	blood:	n/a	n/a
5	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
6	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
7	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
9	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
10	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
11	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
12	ATF3	chr8:43147119-43147233	K562	blood:	n/a	n/a
13	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
14	BACH1	chr8:43654724-43654750	K562	blood:	n/a	n/a
15	BACH1	chr8:43717526-43717725	K562	blood:	n/a	n/a
16	BACH1	chr8:43572418-43572443	K562	blood:	n/a	n/a
17	BATF	chr8:43109976-43110180	GM12878	blood:	n/a	n/a
18	BATF	chr8:43108719-43109805	GM12878	blood:	n/a	chr8:43109272-43109283
19	BATF	chr8:43109104-43109534	GM12878	blood:	n/a	chr8:43109272-43109283
20	BATF	chr8:43109893-43110159	GM12878	blood:	n/a	n/a
21	BCL11A	chr8:43092760-43093018	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr8:43093044-43093315	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL11A	chr8:43109074-43109557	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:43109237-43109516	GM12878	blood:	n/a	n/a
25	BCL3	chr8:43109125-43109600	GM12878	blood:	n/a	n/a
26	BHLHE40	chr8:43092680-43093343	HepG2	liver:	n/a	n/a
27	BHLHE40	chr8:43654723-43654750	K562	blood:	n/a	n/a
28	BHLHE40	chr8:43135956-43136341	GM12878	blood:	n/a	n/a
29	BHLHE40	chr8:43147157-43147318	K562	blood:	n/a	chr8:43147193-43147202
30	BHLHE40	chr8:43093607-43094086	HepG2	liver:	n/a	n/a
31	BHLHE40	chr8:43109185-43109506	GM12878	blood:	n/a	n/a
32	BHLHE40	chr8:43095678-43096317	HepG2	liver:	n/a	n/a
33	BHLHE40	chr8:43135956-43136331	K562	blood:	n/a	n/a
34	BHLHE40	chr8:43096328-43097227	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:43717354-43717554	K562	blood:	n/a	n/a
36	BHLHE40	chr8:43094597-43095487	HepG2	liver:	n/a	n/a
37	BHLHE40	chr8:43135971-43136325	HepG2	liver:	n/a	n/a
38	BHLHE40	chr8:43572418-43572443	K562	blood:	n/a	n/a
39	BRCA1	chr8:43717353-43717727	GM12878	blood:	n/a	n/a
40	BRCA1	chr8:43717527-43717552	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr8:43519669-43520216	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr8:43092712-43097416	HepG2	liver:	n/a	n/a
43	BRCA1	chr8:43092713-43097248	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr8:43135925-43136324	K562	blood:	n/a	n/a
45	CBX3	chr8:43420572-43420906	K562	blood:	n/a	n/a
46	CBX3	chr8:43136043-43136239	K562	blood:	n/a	n/a
47	CCNT2	chr8:43136064-43136182	K562	blood:	n/a	n/a
48	CCNT2	chr8:43092712-43097183	K562	blood:	n/a	n/a
49	CEBPB	chr8:43414546-43414811	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr8:43096381-43096773	HepG2	liver:	n/a	n/a

(count:3419 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:43101403-43101453	ovcar-3	ovarian:	n/a
2	chr8:43418721-43418771	HRCEpiC	kidney:	n/a
3	chr8:43417291-43417341	T-47D	breast:	n/a
4	chr8:43101403-43101453	ovcar-3	ovarian:	n/a
5	chr8:43418721-43418771	HRCEpiC	kidney:	n/a
6	chr8:43417291-43417341	T-47D	breast:	n/a
7	chr8:43132451-43132501	PANC-1	pancreas:	n/a
8	chr8:43132451-43132501	HRCEpiC	kidney:	n/a
9	chr8:43129374-43129424	AoSMC	blood vessel:	n/a
10	chr8:43417050-43417100	AG10803	skin:	n/a
11	chr8:43126988-43127038	AG09319	gingival:	n/a
12	chr8:43124515-43124565	MCF10A-Er-Src	breast:	n/a
13	chr8:43131353-43131403	HEEpiC	esophagus:	n/a
14	chr8:43405739-43405789	HCM	heart:	n/a
15	chr8:43126988-43127038	GM12878	blood:	n/a
16	chr8:43131353-43131403	HRPEpiC	eye:	n/a
17	chr8:43418721-43418771	HCF	heart:	n/a
18	chr8:43132256-43132306	GM06990	blood:	n/a
19	chr8:43418721-43418771	HIPEpiC	eye:	n/a
20	chr8:43147581-43147631	Jurkat	blood:	n/a
21	chr8:43147439-43147489	ovcar-3	ovarian:	n/a
22	chr8:43278783-43278833	MCF10A-Er-Src	breast:	n/a
23	chr8:43102605-43102655	GM12878	blood:	n/a
24	chr8:43132451-43132501	Caco-2	colon:	n/a
25	chr8:43275453-43275503	AoSMC	blood vessel:	n/a
26	chr8:43147564-43147614	Hela-S3	cervix:	n/a
27	chr8:43147439-43147489	SK-N-SH_RA	brain:	n/a
28	chr8:43127238-43127288	T-47D	breast:	n/a
29	chr8:43132256-43132306	HMEC	breast:	n/a
30	chr8:43136445-43136495	Hela-S3	cervix:	n/a
31	chr8:43136162-43136212	MCF-7	breast:	n/a
32	chr8:43127238-43127288	ovcar-3	ovarian:	n/a
33	chr8:43401874-43401924	ProgFib	skin:	n/a
34	chr8:43278783-43278833	ECC-1	luminal epithelium:	n/a
35	chr8:43129374-43129424	AG04450	lung:	fetal
36	chr8:43146218-43146268	MCF-7	breast:	n/a
37	chr8:43131535-43131585	MCF-7	breast:	n/a
38	chr8:43101900-43101950	NHDF-neo	bronchial:	n/a
39	chr8:43406314-43406364	AG04450	lung:	fetal
40	chr8:43157775-43157825	PFSK-1	brain:	n/a
41	chr8:43213875-43213925	GM12878	blood:	n/a
42	chr8:43131260-43131310	Hela-S3	cervix:	n/a
43	chr8:43147397-43147447	NB4	blood:	n/a
44	chr8:43275453-43275503	Hela-S3	cervix:	n/a
45	chr8:43403277-43403327	HEK293	kidney:	embryo
46	chr8:43404214-43404264	U87	brain:	n/a
47	chr8:43147564-43147614	SK-N-SH	brain:	n/a
48	chr8:43147211-43147261	NB4	blood:	n/a
49	chr8:43136327-43136377	GM06990	blood:	n/a
50	chr8:43146218-43146268	PANC-1	pancreas:	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr20:52560079..52560605-chr8:43092410..43092931,2	MCF-7	breast:
2	chr8:42948202..42949138-chr8:43130975..43131934,4	K562	blood:
3	chr20:40299838..40300740-chr8:43092409..43092931,2	MCF-7	breast:
4	chr6:143209324..143209824-chr8:43096750..43097412,3	MCF-7	breast:
5	chr6:36979663..36980663-chr8:43092429..43093270,3	MCF-7	breast:
6	chr10:116739587..116740088-chr8:43092410..43093248,2	MCF-7	breast:
7	chr12:79782491..79783471-chr8:43094790..43095932,3	MCF-7	breast:
8	chr2:112158086..112161064-chr8:43095226..43096729,2	MCF-7	breast:
9	chr6:143209324..143209824-chr8:43096754..43097413,2	MCF-7	breast:
10	chr10:29692523..29694042-chr8:43091430..43093495,2	K562	blood:
11	chr13:36123641..36125141-chr8:43095070..43096726,2	K562	blood:
12	chr6:19041569..19042567-chr8:43092410..43093429,5	MCF-7	breast:
13	chr5:82184309..82184963-chr8:43234719..43235395,2	MCF-7	breast:
14	chr12:77729288..77730268-chr8:43094498..43095218,2	MCF-7	breast:
15	chr15:63466460..63467983-chr8:43091410..43092930,2	MCF-7	breast:
16	chr17:18159836..18162444-chr8:43095231..43096739,2	MCF-7	breast:
17	chr8:43091408..43093430-chr8:43094417..43096912,15	MCF-7	breast:
18	chr3:74708433..74709433-chr8:43092410..43092929,3	MCF-7	breast:
19	chr8:43091411..43094281-chrX:124180022..124183022,3	MCF-7	breast:
20	chr3:74707451..74708953-chr8:43094695..43096593,2	MCF-7	breast:
21	chr6:19042067..19042569-chr8:43095451..43095951,2	MCF-7	breast:
22	chr1:188146013..188147515-chr8:43094653..43096153,2	MCF-7	breast:
23	chr8:43370024..43372377-chr8:43374871..43376951,2	K562	blood:
24	chr3:64604311..64606118-chr8:43092929..43094780,2	MCF-7	breast:
25	chr2:162166745..162168245-chr8:43096750..43098253,2	MCF-7	breast:
26	chr2:109954904..109955904-chr8:43092281..43092908,2	MCF-7	breast:
27	chr12:61189187..61192169-chr8:43095061..43097452,4	MCF-7	breast:
28	chr4:129728325..129729008-chr8:43092928..43093431,2	MCF-7	breast:
29	chr20:46133444..46136258-chr8:43092929..43095847,2	MCF-7	breast:
30	chr12:100709561..100710541-chr8:43093292..43094020,2	MCF-7	breast:
31	chr8:42993395..42995792-chr8:43097978..43100087,2	K562	blood:
32	chr5:25237065..25240045-chr8:43091410..43092910,2	K562	blood:
33	chr16:88871367..88873195-chr8:43093799..43096276,2	MCF-7	breast:
34	chr13:30720797..30723795-chr8:43093825..43096195,3	MCF-7	breast:
35	chr5:133093190..133093691-chr8:43095416..43095952,2	MCF-7	breast:
36	chr11:77824877..77826397-chr8:43091281..43092909,2	MCF-7	breast:
37	chr20:45876225..45877780-chr8:43091409..43092910,2	MCF-7	breast:
38	chr11:123166252..123169232-chr8:43093503..43097413,5	K562	blood:
39	chr11:115753160..115753680-chr8:43092409..43093268,4	MCF-7	breast:
40	chr8:43091428..43092930-chr9:85469654..85471154,2	MCF-7	breast:
41	chr3:121920901..121921421-chr8:43094593..43095218,2	MCF-7	breast:
42	chr1:188145534..188146513-chr8:43092929..43093429,2	MCF-7	breast:
43	chr12:95130129..95133109-chr8:43094897..43096570,2	MCF-7	breast:
44	chr15:52140617..52141273-chr8:43092930..43093431,2	MCF-7	breast:
45	chr22:44348232..44349732-chr8:43092928..43095332,2	MCF-7	breast:
46	chr17:79884582..79885478-chr8:43096392..43097259,2	Hela-S3	cervix:
47	chr13:36123141..36123661-chr8:43092410..43092930,2	MCF-7	breast:
48	chr3:87910561..87911061-chr8:43092408..43093087,2	MCF-7	breast:
49	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
50	chr8:43086135..43088781-chr8:43090762..43093391,2	K562	blood:

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

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

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
ENSG00000204569	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000253486	chromatin interactions
ENSG00000167513	chromatin interactions
ENSG00000253748	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000253195	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000165102	chromatin interactions
ENSG00000163466	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000197324	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000185900	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000238509	chromatin interactions
ENSG00000159063	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000136021	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000147526	chromatin interactions
ENSG00000267280	chromatin interactions

Extended variants
information (count: 24364 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:24364 , 50 per page) page: 1 2 3 4 5 6 7 ... 488

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371234206	chr8:43065984-43065985	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554883186	chr8:43066007-43066008	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574935645	chr8:43066041-43066042	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543659264	chr8:43066083-43066084	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16891699	chr8:43066107-43066108	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149482783	chr8:43066116-43066117	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143053804	chr8:43066127-43066128	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13271165	chr8:43066188-43066189	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs370388047	chr8:43066197-43066198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200135968	chr8:43066246-43066247	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs550312478	chr8:43066285-43066286	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs148222182	chr8:43066334-43066335	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141131359	chr8:43066406-43066407	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147357348	chr8:43066412-43066413	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550516383	chr8:43066419-43066420	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564338500	chr8:43066425-43066426	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371311397	chr8:43066504-43066505	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567275961	chr8:43066523-43066524	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543541001	chr8:43066531-43066532	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140996983	chr8:43066552-43066553	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552298396	chr8:43066571-43066572	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565727423	chr8:43066597-43066598	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188126935	chr8:43066610-43066611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534705412	chr8:43066681-43066682	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548427623	chr8:43066687-43066688	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs534560896	chr8:43066710-43066711	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537618564	chr8:43066751-43066752	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529135344	chr8:43066828-43066829	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370382560	chr8:43066835-43066836	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554464732	chr8:43066850-43066851	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577397668	chr8:43066891-43066892	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73675473	chr8:43066913-43066914	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112540094	chr8:43066918-43066919	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143353921	chr8:43066938-43066939	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11990230	chr8:43066939-43066940	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147508622	chr8:43066990-43066991	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559550010	chr8:43067001-43067002	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140134940	chr8:43067002-43067003	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190956981	chr8:43067025-43067026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11987795	chr8:43067028-43067029	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552212487	chr8:43067097-43067098	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150037208	chr8:43067101-43067102	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368412142	chr8:43067124-43067125	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551673198	chr8:43067169-43067170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528439955	chr8:43067170-43067171	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571684085	chr8:43067177-43067178	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548194399	chr8:43067217-43067218	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568477408	chr8:43067272-43067273	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537323328	chr8:43067276-43067277	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116774351	chr8:43067286-43067287	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43061000-43066600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:43061400-43066800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:43063400-43067400	Enhancers	NHEK	skin
4	chr8:43064200-43067400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:43064600-43067400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:43065000-43066200	Weak transcription	HMEC	breast
7	chr8:43065400-43067000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:43065600-43069600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:43066200-43066400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:43066200-43067200	Enhancers	HMEC	breast
11	chr8:43066600-43067000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:43071600-43071800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:43084800-43085200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:43084800-43085200	Enhancers	NHEK	skin
15	chr8:43085200-43092800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:43085200-43092800	Weak transcription	NHEK	skin
17	chr8:43086200-43092800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:43086800-43087200	Enhancers	Gastric	stomach
19	chr8:43088400-43088600	Enhancers	Osteobl	bone
20	chr8:43088400-43089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:43088600-43092800	Weak transcription	Osteobl	bone
22	chr8:43088800-43089200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:43089000-43092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:43092200-43092400	Weak transcription	Ovary	ovary
25	chr8:43092200-43092800	Weak transcription	Fetal Lung	lung
26	chr8:43092200-43092800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:43092400-43092600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:43092400-43092600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:43092400-43092600	Weak transcription	HSMMtube	muscle
30	chr8:43092400-43092800	Weak transcription	HMEC	breast
31	chr8:43092600-43092800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:43092600-43092800	Bivalent Enhancer	HUVEC	blood vessel
33	chr8:43092600-43098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr8:43092600-43099800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr8:43092800-43093000	Bivalent Enhancer	Gastric	stomach
36	chr8:43092800-43093000	Bivalent Enhancer	HSMM	muscle
37	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:43092800-43093200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr8:43092800-43093200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:43092800-43093200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:43092800-43093200	ZNF genes & repeats	Fetal Heart	heart
43	chr8:43092800-43093200	ZNF genes & repeats	Ovary	ovary
44	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
45	chr8:43092800-43093200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr8:43092800-43093200	ZNF genes & repeats	Thymus	Thymus
47	chr8:43092800-43093400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:43092800-43093400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:43092800-43093400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:43092800-43093400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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