Variant report

Variant	nsv465440
Chromosome Location	chr8:8094406-8145440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1622)
CpG islands
(count:244)
Chromatin interactive
region (count:50)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:8101041-8101072	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:8102923-8103018	K562	blood:	n/a	n/a
3	ARID3A	chr8:8127880-8128214	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:8101412-8102391	K562	blood:	n/a	n/a
5	ARID3A	chr8:8130676-8131061	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:8114109-8114421	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:8126032-8126609	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:8127158-8127358	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:8105314-8105669	K562	blood:	n/a	n/a
10	ARID3A	chr8:8105348-8105599	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:8111412-8112067	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:8136392-8136433	K562	blood:	n/a	n/a
13	ATF1	chr8:8101961-8102473	K562	blood:	n/a	n/a
14	ATF1	chr8:8144090-8144415	K562	blood:	n/a	n/a
15	ATF1	chr8:8118490-8118523	K562	blood:	n/a	n/a
16	ATF2	chr8:8126203-8126652	GM12878	blood:	n/a	n/a
17	ATF2	chr8:8141903-8142578	GM12878	blood:	n/a	n/a
18	ATF2	chr8:8141766-8142478	GM12878	blood:	n/a	n/a
19	ATF2	chr8:8143978-8144540	GM12878	blood:	n/a	n/a
20	ATF2	chr8:8143907-8144515	GM12878	blood:	n/a	n/a
21	ATF2	chr8:8096080-8096557	GM12878	blood:	n/a	n/a
22	ATF2	chr8:8126192-8126618	GM12878	blood:	n/a	n/a
23	ATF2	chr8:8136646-8137350	GM12878	blood:	n/a	n/a
24	ATF3	chr8:8101821-8102415	K562	blood:	n/a	n/a
25	ATF3	chr8:8127796-8128282	A549	lung:	n/a	n/a
26	ATF3	chr8:8096172-8096477	K562	blood:	n/a	n/a
27	ATF3	chr8:8101985-8102287	K562	blood:	n/a	n/a
28	BACH1	chr8:8130683-8130937	K562	blood:	n/a	n/a
29	BATF	chr8:8126297-8126540	GM12878	blood:	n/a	chr8:8126405-8126416 chr8:8126421-8126431 chr8:8126417-8126427 chr8:8126420-8126431
30	BATF	chr8:8130779-8131070	GM12878	blood:	n/a	n/a
31	BATF	chr8:8143371-8143632	GM12878	blood:	n/a	n/a
32	BATF	chr8:8141982-8142461	GM12878	blood:	n/a	n/a
33	BATF	chr8:8144007-8144450	GM12878	blood:	n/a	n/a
34	BATF	chr8:8144052-8144469	GM12878	blood:	n/a	n/a
35	BATF	chr8:8095764-8096661	GM12878	blood:	n/a	n/a
36	BATF	chr8:8096176-8096555	GM12878	blood:	n/a	n/a
37	BATF	chr8:8126185-8126638	GM12878	blood:	n/a	chr8:8126405-8126416 chr8:8126421-8126431 chr8:8126417-8126427 chr8:8126420-8126431
38	BATF	chr8:8137532-8137784	GM12878	blood:	n/a	chr8:8137667-8137678 chr8:8137668-8137678
39	BATF	chr8:8136381-8136667	GM12878	blood:	n/a	n/a
40	BATF	chr8:8143398-8143620	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:8144077-8144391	GM12878	blood:	n/a	n/a
42	BCL11A	chr8:8144033-8144432	GM12878	blood:	n/a	n/a
43	BCL11A	chr8:8142010-8142463	GM12878	blood:	n/a	n/a
44	BCL11A	chr8:8096092-8096547	GM12878	blood:	n/a	chr8:8096357-8096366 chr8:8096334-8096343
45	BCL11A	chr8:8096143-8096503	GM12878	blood:	n/a	chr8:8096357-8096366 chr8:8096334-8096343
46	BCL11A	chr8:8136385-8136641	GM12878	blood:	n/a	n/a
47	BCL3	chr8:8127696-8128351	A549	lung:	n/a	n/a
48	BCL3	chr8:8127769-8128486	A549	lung:	n/a	n/a
49	BCLAF1	chr8:8141823-8142384	GM12878	blood:	n/a	n/a
50	BCLAF1	chr8:8136696-8137250	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8131077-8131127	HepG2	liver:	n/a
2	chr8:8120624-8120674	HNPCEpiC	eye:	n/a
3	chr8:8120624-8120674	CMK	blood:	n/a
4	chr8:8131077-8131127	HNPCEpiC	eye:	n/a
5	chr8:8102392-8102442	AG09309	skin:	n/a
6	chr8:8102392-8102442	SK-N-SH_RA	brain:	n/a
7	chr8:8102392-8102442	Caco-2	colon:	n/a
8	chr8:8102392-8102442	T-47D	breast:	n/a
9	chr8:8120624-8120674	Hela-S3	cervix:	n/a
10	chr8:8131077-8131127	ECC-1	luminal epithelium:	n/a
11	chr8:8102392-8102442	PFSK-1	brain:	n/a
12	chr8:8131077-8131127	PFSK-1	brain:	n/a
13	chr8:8120624-8120674	AG09319	gingival:	n/a
14	chr8:8102392-8102442	AG10803	skin:	n/a
15	chr8:8131077-8131127	IMR90	lung:	fetal
16	chr8:8131077-8131127	Hela-S3	cervix:	n/a
17	chr8:8120624-8120674	Caco-2	colon:	n/a
18	chr8:8120624-8120674	U87	brain:	n/a
19	chr8:8102121-8102171	PrEC	prostate:	n/a
20	chr8:8131077-8131127	SAEC	small airway:	n/a
21	chr8:8131077-8131127	PrEC	prostate:	n/a
22	chr8:8131077-8131127	NH-A	brain:	n/a
23	chr8:8131077-8131127	AG04450	lung:	fetal
24	chr8:8102392-8102442	ovcar-3	ovarian:	n/a
25	chr8:8131077-8131127	Caco-2	colon:	n/a
26	chr8:8102121-8102171	SK-N-SH_RA	brain:	n/a
27	chr8:8102392-8102442	Jurkat	blood:	n/a
28	chr8:8102392-8102442	AoSMC	blood vessel:	n/a
29	chr8:8120624-8120674	ProgFib	skin:	n/a
30	chr8:8120624-8120674	BJ	skin:	n/a
31	chr8:8102121-8102171	ovcar-3	ovarian:	n/a
32	chr8:8131077-8131127	NHDF-neo	bronchial:	n/a
33	chr8:8131077-8131127	NT2-D1	testis:	n/a
34	chr8:8102392-8102442	ECC-1	luminal epithelium:	n/a
35	chr8:8102121-8102171	HEEpiC	esophagus:	n/a
36	chr8:8102392-8102442	HUVEC	blood vessel:	n/a
37	chr8:8102121-8102171	GM06990	blood:	n/a
38	chr8:8102121-8102171	HIPEpiC	eye:	n/a
39	chr8:8120624-8120674	GM12878	blood:	n/a
40	chr8:8120624-8120674	H1-hESC	embryonic stem cell:	embryo
41	chr8:8102121-8102171	Caco-2	colon:	n/a
42	chr8:8131077-8131127	Jurkat	blood:	n/a
43	chr8:8131077-8131127	Hepatocyte	liver:	n/a
44	chr8:8131077-8131127	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:8102392-8102442	HCF	heart:	n/a
46	chr8:8102392-8102442	IMR90	lung:	fetal
47	chr8:8102392-8102442	PANC-1	pancreas:	n/a
48	chr8:8120624-8120674	GM12891	blood:	n/a
49	chr8:8131077-8131127	HMEC	breast:	n/a
50	chr8:8102392-8102442	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr8:8145200..8147453-chr8:8312155..8314860,2	MCF-7	breast:
2	chr8:8144375..8149679-chr8:8240479..8246459,10	MCF-7	breast:
3	chr8:8130384..8131365-chr8:8526780..8528280,9	K562	blood:
4	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
5	chr8:8104258..8105835-chr8:8243426..8245376,2	MCF-7	breast:
6	chr8:8093979..8096897-chr8:8099466..8105094,8	K562	blood:
7	chr8:8101610..8104492-chr8:8112542..8114092,2	K562	blood:
8	chr8:8094104..8094693-chr8:8146401..8147333,2	MCF-7	breast:
9	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
10	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
11	chr8:8101610..8104279-chr8:8111391..8114092,2	K562	blood:
12	chr8:8125550..8129443-chr8:8243752..8245349,3	MCF-7	breast:
13	chr8:8093979..8097330-chr8:8100546..8105094,4	K562	blood:
14	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
15	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
16	chr8:8108549..8111183-chr8:8240516..8242778,2	MCF-7	breast:
17	chr8:8094096..8094629-chr8:8147947..8148540,2	MCF-7	breast:
18	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
19	chr8:8126193..8127836-chr8:8129384..8131743,2	MCF-7	breast:
20	chr8:8094651..8097727-chr8:8099626..8103713,3	MCF-7	breast:
21	chr8:8138288..8140321-chr8:8142532..8144155,2	MCF-7	breast:
22	chr8:8093979..8096897-chr8:8099466..8105094,8	K562	blood:
23	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:
24	chr8:8142616..8145069-chr8:8226333..8228141,2	MCF-7	breast:
25	chr8:8130511..8132438-chr8:8135661..8137544,2	K562	blood:
26	chr8:8094651..8097727-chr8:8099626..8103713,3	MCF-7	breast:
27	chr8:8105578..8107200-chr8:8525517..8527239,2	MCF-7	breast:
28	chr8:8128833..8131355-chr8:8136442..8139093,2	MCF-7	breast:
29	chr8:8142878..8144520-chr8:8146399..8149197,2	MCF-7	breast:
30	chr8:8128010..8130864-chr8:8317877..8319814,2	MCF-7	breast:
31	chr8:8084641..8087551-chr8:8098301..8100358,2	K562	blood:
32	chr8:8134161..8136694-chr8:8559309..8560894,2	MCF-7	breast:
33	chr8:8101157..8102709-chr8:8124508..8126459,2	MCF-7	breast:
34	chr8:8130411..8130935-chr8:8374466..8375028,2	K562	blood:
35	chr8:8092255..8094353-chr8:8097556..8100076,2	K562	blood:
36	chr8:8144670..8146200-chr8:8236707..8239376,2	MCF-7	breast:
37	chr8:8129344..8132133-chr8:8525629..8527896,2	MCF-7	breast:
38	chr8:8140760..8143388-chr8:8146728..8148425,2	K562	blood:
39	chr8:8105059..8106011-chr8:8526943..8527953,6	MCF-7	breast:
40	chr8:8131655..8133179-chr8:8135431..8137292,2	MCF-7	breast:
41	chr8:8130322..8131342-chr8:8527334..8528198,3	MCF-7	breast:
42	chr8:8126556..8131624-chr8:8143035..8148399,10	MCF-7	breast:
43	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
44	chr8:8093979..8097330-chr8:8100546..8105094,4	K562	blood:
45	chr8:8141970..8144276-chr8:8242374..8245136,3	MCF-7	breast:
46	chr8:8105365..8106008-chr8:8526894..8527465,2	K562	blood:
47	chr8:8130421..8131300-chr8:8175825..8176932,3	K562	blood:
48	chr8:8134812..8136654-chr8:8146118..8147961,3	K562	blood:
49	chr8:8098254..8100230-chr8:8106571..8108592,2	K562	blood:
50	chr8:8118434..8122893-chr8:8123384..8125953,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC068020.1-1	chr8:8095815-8096448	NONHSAT124861
2	lnc-AC068020.1-1	chr8:8099150-8099484	NONHSAT124868
3	lnc-AC068020.1-1	chr8:8097891-8099954	NONHSAT124866
4	lnc-AC068020.1-1	chr8:8094730-8094797	NONHSAT124861
5	lnc-AC068020.1-1	chr8:8101621-8102385	NONHSAT124866
6	lnc-PRAGMIN.1-7	chr8:8095713-8095872	NONHSAT124858
7	lnc-PRAGMIN.1-7	chr8:8097015-8097098	NONHSAT124863
8	lnc-AC068020.1-1	chr8:8101621-8101707	NONHSAT124867
9	lnc-AC068020.1-1	chr8:8101621-8101684	NONHSAT124868
10	lnc-PRAGMIN.1-7	chr8:8095696-8095860	NONHSAT124863
11	lnc-PRAGMIN.1-7	chr8:8097728-8097835	NONHSAT124863
12	lnc-AC068020.1-1	chr8:8098797-8099202	NONHSAT124867
13	lnc-PRAGMIN.1-7	chr8:8094648-8095823	NONHSAT124860
14	lnc-PRAGMIN.1-7	chr8:8097960-8098070	NONHSAT124863
15	lnc-PRAGMIN.1-7	chr8:8098818-8098933	NONHSAT124863
16	lnc-PRAGMIN.1-7	chr8:8097017-8097128	NONHSAT124860

No data

Variant related genes	Relation type
FAM86B3P	TF binding region
ALG1L13P	TF binding region
FAM86B3P	CpG island
ALG1L13P	CpG island
ENSG00000254153	chromatin interactions
ENSG00000253981	chromatin interactions
ENSG00000173295	chromatin interactions
ENSG00000253958	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000176305	chromatin interactions

Extended variants
information (count: 2882 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:2882 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2945251	chr8:8094406-8094407	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557375210	chr8:8094414-8094415	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577892040	chr8:8094449-8094450	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543743383	chr8:8094461-8094462	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557499241	chr8:8094470-8094471	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574175517	chr8:8094476-8094477	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543063174	chr8:8094520-8094521	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117907084	chr8:8094540-8094541	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2945250	chr8:8094555-8094556	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545416974	chr8:8094556-8094557	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565308101	chr8:8094589-8094590	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533228106	chr8:8094594-8094595	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550121891	chr8:8094610-8094611	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189186660	chr8:8094644-8094645	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs34279616	chr8:8094645-8094646	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200593989	chr8:8094648-8094649	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs73199790	chr8:8094672-8094673	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549198847	chr8:8094689-8094690	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs565631658	chr8:8094695-8094696	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs146320244	chr8:8094699-8094700	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs557318018	chr8:8094701-8094702	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs138935178	chr8:8094713-8094714	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs375066714	chr8:8094714-8094715	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs113630236	chr8:8094720-8094721	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs2945249	chr8:8094726-8094727	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs141393421	chr8:8094743-8094744	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs538049412	chr8:8094752-8094753	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs573353648	chr8:8094758-8094759	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs545533779	chr8:8094759-8094760	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs565250520	chr8:8094761-8094762	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs530929919	chr8:8094762-8094763	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs2980437	chr8:8094763-8094764	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs563423623	chr8:8094771-8094772	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs529232889	chr8:8094790-8094791	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs193112324	chr8:8094795-8094796	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs565897960	chr8:8094802-8094803	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs528142621	chr8:8094822-8094823	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs2980438	chr8:8094825-8094826	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs570865541	chr8:8094853-8094854	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs2980439	chr8:8094870-8094871	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs550593153	chr8:8094875-8094876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs376965598	chr8:8094930-8094931	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs114784826	chr8:8094956-8094957	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs2948294	chr8:8094961-8094962	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs377468081	chr8:8094962-8094963	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs573498759	chr8:8094963-8094964	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs539088980	chr8:8094974-8094975	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs559101612	chr8:8094979-8094980	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs184792053	chr8:8095002-8095003	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs2980440	chr8:8095009-8095010	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:144)

Disease	PMID	Source
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8086600-8094600	Weak transcription	Ovary	ovary
2	chr8:8086600-8096000	Weak transcription	Fetal Thymus	thymus
3	chr8:8086600-8100600	Weak transcription	Aorta	Aorta
4	chr8:8086800-8094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8086800-8096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:8086800-8096200	Weak transcription	Thymus	Thymus
7	chr8:8086800-8096600	Weak transcription	Fetal Stomach	stomach
8	chr8:8086800-8097600	Weak transcription	Brain Anterior Caudate	brain
9	chr8:8086800-8099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:8086800-8100000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:8086800-8101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:8086800-8101600	Weak transcription	Pancreas	Pancrea
13	chr8:8086800-8108400	Weak transcription	NHEK	skin
14	chr8:8087000-8094600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:8087000-8095600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:8087000-8096000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:8087000-8096800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:8087000-8097600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:8087000-8100000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:8087000-8101000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:8087400-8100400	Weak transcription	A549	lung
22	chr8:8091200-8101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:8091800-8095200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:8092000-8095400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:8092000-8095400	Weak transcription	Stomach Mucosa	stomach
26	chr8:8092000-8101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:8092000-8101800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:8092200-8103600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:8092400-8096000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:8092400-8103600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:8093000-8095000	Genic enhancers	K562	blood
32	chr8:8093000-8096200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:8093200-8094600	Weak transcription	GM12878-XiMat	blood
34	chr8:8093200-8095400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:8093400-8095000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:8093400-8095000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:8093400-8095400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:8093600-8101200	Weak transcription	Osteobl	bone
39	chr8:8093600-8106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8093800-8095000	Enhancers	Liver	Liver
41	chr8:8093800-8096000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:8093800-8096000	Weak transcription	Spleen	Spleen
43	chr8:8093800-8101400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:8094000-8095400	Weak transcription	Placenta	Placenta
45	chr8:8094000-8095600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:8094000-8097000	Weak transcription	Fetal Intestine Small	intestine
47	chr8:8094000-8101000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:8094000-8101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:8094000-8105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:8094400-8095400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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