Variant report

Variant	nsv539570
Chromosome Location	chr8:43048768-43333639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1474)
CpG islands
(count:3299)
Chromatin interactive
region (count:362)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1474 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

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	chr8:43147119-43147233	K562	blood:	n/a	n/a
6	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
7	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
9	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
10	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
11	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
12	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
13	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
14	BATF	chr8:43109893-43110159	GM12878	blood:	n/a	n/a
15	BATF	chr8:43109976-43110180	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	chr8:43092760-43093018	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr8:43093044-43093315	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr8:43109074-43109557	GM12878	blood:	n/a	n/a
21	BCL11A	chr8:43109237-43109516	GM12878	blood:	n/a	n/a
22	BCL3	chr8:43109125-43109600	GM12878	blood:	n/a	n/a
23	BCL3	chr8:43061081-43061415	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:43147157-43147318	K562	blood:	n/a	chr8:43147193-43147202
25	BHLHE40	chr8:43092680-43093343	HepG2	liver:	n/a	n/a
26	BHLHE40	chr8:43135956-43136341	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:43109185-43109506	GM12878	blood:	n/a	n/a
28	BHLHE40	chr8:43135956-43136331	K562	blood:	n/a	n/a
29	BHLHE40	chr8:43094597-43095487	HepG2	liver:	n/a	n/a
30	BHLHE40	chr8:43096328-43097227	HepG2	liver:	n/a	n/a
31	BHLHE40	chr8:43095678-43096317	HepG2	liver:	n/a	n/a
32	BHLHE40	chr8:43135971-43136325	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	chr8:43092712-43097183	K562	blood:	n/a	n/a
39	CCNT2	chr8:43136064-43136182	K562	blood:	n/a	n/a
40	CEBPB	chr8:43096381-43096773	HepG2	liver:	n/a	n/a
41	CEBPB	chr8:43057976-43058302	ECC-1	luminal epithelium:	n/a	chr8:43058145-43058156
42	CEBPB	chr8:43222991-43222998	HepG2	liver:	n/a	n/a
43	CEBPB	chr8:43066294-43066622	Hela-S3	cervix:	n/a	chr8:43066425-43066436 chr8:43066424-43066437
44	CEBPB	chr8:43306476-43306804	HepG2	liver:	n/a	chr8:43306646-43306657 chr8:43306657-43306668
45	CEBPB	chr8:43066108-43066798	HCT-116	colon:	n/a	chr8:43066425-43066436 chr8:43066424-43066437
46	CEBPB	chr8:43094978-43095337	HepG2	liver:	n/a	n/a
47	CEBPB	chr8:43088344-43088408	HepG2	liver:	n/a	chr8:43088362-43088373
48	CEBPB	chr8:43221409-43221449	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:43145445-43145645	HepG2	liver:	n/a	chr8:43145521-43145532 chr8:43145523-43145532
50	CEBPB	chr8:43221416-43221477	A549	lung:	n/a	n/a

(count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:43059519-43059569	GM06990	blood:	n/a
2	chr8:43101622-43101672	GM06990	blood:	n/a
3	chr8:43147581-43147631	SK-N-MC	brain:	n/a
4	chr8:43132256-43132306	GM12892	blood:	n/a
5	chr8:43105801-43105851	GM12878	blood:	n/a
6	chr8:43059519-43059569	GM06990	blood:	n/a
7	chr8:43101622-43101672	GM06990	blood:	n/a
8	chr8:43147581-43147631	SK-N-MC	brain:	n/a
9	chr8:43132256-43132306	GM12892	blood:	n/a
10	chr8:43105801-43105851	GM12878	blood:	n/a
11	chr8:43147397-43147447	MCF10A-Er-Src	breast:	n/a
12	chr8:43059519-43059569	Caco-2	colon:	n/a
13	chr8:43101622-43101672	Hela-S3	cervix:	n/a
14	chr8:43101900-43101950	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:43157775-43157825	HRE	kidney:	n/a
16	chr8:43102468-43102518	SKMC	muscle:	n/a
17	chr8:43132451-43132501	ovcar-3	ovarian:	n/a
18	chr8:43278783-43278833	HEEpiC	esophagus:	n/a
19	chr8:43278783-43278833	HPAEpiC	pulmonary alveolar:	n/a
20	chr8:43136445-43136495	NT2-D1	testis:	n/a
21	chr8:43059960-43060010	AG04450	lung:	fetal
22	chr8:43059863-43059913	MCF-7	breast:	n/a
23	chr8:43146388-43146438	HCF	heart:	n/a
24	chr8:43147554-43147604	AG09309	skin:	n/a
25	chr8:43061729-43061779	HRCEpiC	kidney:	n/a
26	chr8:43059863-43059913	AG04449	skin:	fetal
27	chr8:43147397-43147447	HRE	kidney:	n/a
28	chr8:43147602-43147652	HCM	heart:	n/a
29	chr8:43059945-43059995	AG04450	lung:	fetal
30	chr8:43058931-43058981	GM12878	blood:	n/a
31	chr8:43132125-43132175	U87	brain:	n/a
32	chr8:43132507-43132557	HMEC	breast:	n/a
33	chr8:43132451-43132501	AG09309	skin:	n/a
34	chr8:43062063-43062113	H1-hESC	embryonic stem cell:	embryo
35	chr8:43132451-43132501	AoSMC	blood vessel:	n/a
36	chr8:43059519-43059569	BE2_C	brain:	n/a
37	chr8:43131353-43131403	IMR90	lung:	fetal
38	chr8:43131431-43131481	HepG2	liver:	n/a
39	chr8:43124515-43124565	HCT-116	colon:	n/a
40	chr8:43157775-43157825	HCPEpiC	choroid plexus:	n/a
41	chr8:43132256-43132306	PANC-1	pancreas:	n/a
42	chr8:43055420-43055470	K562	blood:	n/a
43	chr8:43147439-43147489	PrEC	prostate:	n/a
44	chr8:43105801-43105851	ProgFib	skin:	n/a
45	chr8:43059756-43059806	SAEC	small airway:	n/a
46	chr8:43059519-43059569	HUVEC	blood vessel:	n/a
47	chr8:43132125-43132175	PrEC	prostate:	n/a
48	chr8:43059519-43059569	GM12892	blood:	n/a
49	chr8:43146218-43146268	CMK	blood:	n/a
50	chr8:43146388-43146438	HRPEpiC	eye:	n/a

(count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr1:188146013..188147515-chr8:43094653..43096153,2	MCF-7	breast:
2	chr4:110588789..110589289-chr8:43092779..43093429,2	MCF-7	breast:
3	chr13:36123641..36125141-chr8:43092931..43096055,3	MCF-7	breast:
4	chr20:10902696..10903676-chr8:43093278..43093908,2	MCF-7	breast:
5	chr1:152464401..152465401-chr8:43092779..43093289,2	MCF-7	breast:
6	chr10:29693523..29694523-chr8:43092410..43093269,3	MCF-7	breast:
7	chr2:109954904..109955904-chr8:43092281..43092908,2	MCF-7	breast:
8	chr8:43091261..43093494-chr8:43094415..43096913,11	MCF-7	breast:
9	chr8:43069219..43071283-chr8:43129301..43131472,2	K562	blood:
10	chr11:115752160..115753660-chr8:43091429..43092930,2	K562	blood:
11	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
12	chr8:43044617..43046347-chr8:43049196..43050726,2	K562	blood:
13	chr11:115752160..115753680-chr8:43091410..43092931,2	MCF-7	breast:
14	chr8:43083855..43085786-chr8:43086254..43089170,2	K562	blood:
15	chr8:43096088..43096753-chrX:124181022..124181522,2	MCF-7	breast:
16	chr11:115753180..115754160-chr8:43096224..43097245,3	MCF-7	breast:
17	chr15:77017797..77020777-chr8:43093705..43096561,2	K562	blood:
18	chr6:121184522..121185022-chr8:43092431..43093292,2	MCF-7	breast:
19	chr19:34854020..34854520-chr8:43096224..43096733,2	MCF-7	breast:
20	chr1:114521530..114522364-chr8:43096754..43097254,2	MCF-7	breast:
21	chr13:40006578..40007078-chr8:43096078..43096981,2	MCF-7	breast:
22	chr10:17481490..17481990-chr8:43092789..43093507,2	MCF-7	breast:
23	chr6:19040587..19043568-chr8:43091992..43094698,2	MCF-7	breast:
24	chr4:53214789..53215789-chr8:43096078..43097501,6	MCF-7	breast:
25	chr8:43091409..43094429-chrX:124180042..124183022,3	MCF-7	breast:
26	chr1:188144535..188147516-chr8:43091410..43094431,3	K562	blood:
27	chr4:120182161..120185141-chr8:43091410..43093269,2	K562	blood:
28	chr7:134540360..134540861-chr8:43095916..43096469,2	MCF-7	breast:
29	chr3:74708433..74709433-chr8:43092430..43093431,3	MCF-7	breast:
30	chr8:43091408..43093800-chr8:43095231..43097056,5	K562	blood:
31	chr2:178637693..178638193-chr8:43096253..43096754,2	MCF-7	breast:
32	chr6:121184522..121185022-chr8:43092430..43092931,2	MCF-7	breast:
33	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:
34	chr2:19710536..19711036-chr8:43092411..43093272,2	MCF-7	breast:
35	chr8:38644109..38644833-chr8:43092928..43093429,2	HCT-116	colon:
36	chr8:43092769..43093431-chrX:124181042..124182022,3	MCF-7	breast:
37	chr13:54256787..54257307-chr8:43092259..43092930,2	MCF-7	breast:
38	chr10:29693523..29694043-chr8:43096231..43096753,2	MCF-7	breast:
39	chr8:43095277..43095952-chrX:124181042..124181542,2	MCF-7	breast:
40	chr15:56952424..56953252-chr8:43092410..43092931,2	MCF-7	breast:
41	chr13:30720797..30723795-chr8:43093825..43096195,3	MCF-7	breast:
42	chr3:121920901..121921421-chr8:43094593..43095218,2	MCF-7	breast:
43	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:
44	chr4:101370548..101371068-chr8:43096088..43096731,2	MCF-7	breast:
45	chr11:123167732..123169232-chr8:43093408..43095894,2	MCF-7	breast:
46	chr8:43093713..43095453-chr8:145733548..145735690,2	MCF-7	breast:
47	chr8:43092929..43095232-chrX:25126042..25127564,2	K562	blood:
48	chr5:25237044..25240045-chr8:43094943..43097471,3	MCF-7	breast:
49	chr2:133110121..133110687-chr8:43101237..43102219,2	MCF-7	breast:
50	chr8:43096231..43096892-chr9:14244600..14245100,2	MCF-7	breast:

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

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

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

Extended variants
information (count: 4859 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:4859 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566889270	chr8:43048850-43048851	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373930673	chr8:43048879-43048880	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376109017	chr8:43048880-43048881	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572520712	chr8:43048893-43048894	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370314091	chr8:43048925-43048926	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148467283	chr8:43048955-43048956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs121908284	chr8:43048967-43048968	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398124545	chr8:43048987-43048988	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573124827	chr8:43048997-43048998	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549114375	chr8:43049027-43049028	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373734398	chr8:43049033-43049034	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569546656	chr8:43049081-43049082	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs117202729	chr8:43049131-43049132	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs142617469	chr8:43049149-43049150	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77979383	chr8:43049195-43049196	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs397796695	chr8:43049202-43049203	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377707340	chr8:43049251-43049252	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571849191	chr8:43049287-43049288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35270980	chr8:43049330-43049331	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368479323	chr8:43049422-43049423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553821447	chr8:43049497-43049498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150946166	chr8:43049505-43049506	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376472989	chr8:43049566-43049567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139524860	chr8:43049589-43049590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143137876	chr8:43049599-43049600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370256906	chr8:43049606-43049607	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563061794	chr8:43049616-43049617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544880379	chr8:43049642-43049643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372658645	chr8:43049645-43049646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564880471	chr8:43049647-43049648	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146674350	chr8:43049681-43049682	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540874654	chr8:43049714-43049715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560584021	chr8:43049726-43049727	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11781737	chr8:43049743-43049744	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188368256	chr8:43049789-43049790	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547807234	chr8:43049812-43049813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141412859	chr8:43049819-43049820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531770442	chr8:43049901-43049902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552101174	chr8:43049911-43049912	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572012437	chr8:43049981-43049982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534362077	chr8:43049997-43049998	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547678311	chr8:43050042-43050043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193196328	chr8:43050081-43050082	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567319865	chr8:43050136-43050137	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535949789	chr8:43050214-43050215	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555866903	chr8:43050291-43050292	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575627518	chr8:43050395-43050396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145812110	chr8:43050411-43050412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548701777	chr8:43050440-43050441	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558387802	chr8:43050445-43050446	Weak transcription ZNF genes & repeats Strong transcription	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
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

Chromatin state (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43009000-43052000	Weak transcription	Fetal Heart	heart
2	chr8:43026400-43058800	Weak transcription	Small Intestine	intestine
3	chr8:43026800-43056400	Weak transcription	Fetal Thymus	thymus
4	chr8:43028200-43049200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:43030400-43059200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:43042800-43057600	Strong transcription	Fetal Intestine Large	intestine
7	chr8:43042800-43058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:43043200-43057800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:43043200-43058200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:43043400-43050200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr8:43043400-43050600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:43043400-43057000	Strong transcription	Fetal Lung	lung
13	chr8:43043400-43057600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:43043600-43050600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:43043600-43057800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:43043600-43058200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:43043800-43057600	Strong transcription	Fetal Intestine Small	intestine
18	chr8:43044200-43050200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:43044200-43050200	Strong transcription	Spleen	Spleen
20	chr8:43044200-43057600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:43044200-43057600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:43044200-43058200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:43044400-43050200	Strong transcription	Brain Hippocampus Middle	brain
24	chr8:43044400-43050200	Strong transcription	Brain Substantia Nigra	brain
25	chr8:43044400-43053400	Strong transcription	Brain Cingulate Gyrus	brain
26	chr8:43044400-43059400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:43044400-43059600	Strong transcription	Fetal Brain Female	brain
28	chr8:43044600-43053000	Strong transcription	Lung	lung
29	chr8:43044600-43056400	Strong transcription	Dnd41	blood
30	chr8:43044600-43057600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:43044600-43057600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:43044800-43056600	Strong transcription	Primary B cells from cord blood	blood
33	chr8:43044800-43057800	Strong transcription	Placenta	Placenta
34	chr8:43045000-43056000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:43045000-43056800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:43045000-43057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:43045200-43055000	Strong transcription	Fetal Kidney	kidney
38	chr8:43045200-43057200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:43045200-43057400	Strong transcription	Primary T cells from cord blood	blood
40	chr8:43045400-43049600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:43045400-43050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:43045400-43057600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:43045600-43048800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:43045600-43053600	Strong transcription	Right Ventricle	heart
45	chr8:43045600-43057600	Strong transcription	Gastric	stomach
46	chr8:43045600-43057800	Strong transcription	Brain Germinal Matrix	brain
47	chr8:43045800-43048800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:43046000-43058200	Strong transcription	Brain Anterior Caudate	brain
49	chr8:43046200-43051000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:43046200-43057400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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