Variant report

Variant	nsv524404
Chromosome Location	chr8:6263083-6291485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1624)
CpG islands
(count:671)
Chromatin interactive
region (count:49)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1624 , 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	chr8:6281457-6281796	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:6287029-6287220	K562	blood:	n/a	n/a
3	ARID3A	chr8:6270786-6270943	K562	blood:	n/a	n/a
4	ARID3A	chr8:6263893-6264043	K562	blood:	n/a	n/a
5	ARID3A	chr8:6281432-6281829	K562	blood:	n/a	n/a
6	ARID3A	chr8:6263882-6264269	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:6285833-6286815	K562	blood:	n/a	n/a
8	ATF1	chr8:6286138-6286688	K562	blood:	n/a	n/a
9	ATF2	chr8:6283513-6284264	GM12878	blood:	n/a	n/a
10	ATF2	chr8:6263711-6264270	GM12878	blood:	n/a	n/a
11	ATF2	chr8:6274572-6275754	GM12878	blood:	n/a	n/a
12	ATF2	chr8:6285679-6287065	GM12878	blood:	n/a	n/a
13	ATF2	chr8:6285699-6286950	GM12878	blood:	n/a	n/a
14	ATF2	chr8:6274564-6275935	GM12878	blood:	n/a	n/a
15	ATF2	chr8:6273689-6274273	GM12878	blood:	n/a	n/a
16	ATF2	chr8:6283712-6284449	GM12878	blood:	n/a	n/a
17	BACH1	chr8:6263916-6264157	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr8:6281726-6282075	K562	blood:	n/a	n/a
19	BATF	chr8:6283796-6284188	GM12878	blood:	n/a	n/a
20	BATF	chr8:6285752-6286173	GM12878	blood:	n/a	n/a
21	BATF	chr8:6274761-6275058	GM12878	blood:	n/a	n/a
22	BATF	chr8:6274819-6275423	GM12878	blood:	n/a	n/a
23	BATF	chr8:6283891-6284144	GM12878	blood:	n/a	n/a
24	BATF	chr8:6286244-6286758	GM12878	blood:	n/a	n/a
25	BATF	chr8:6286240-6286820	GM12878	blood:	n/a	n/a
26	BATF	chr8:6275084-6275784	GM12878	blood:	n/a	n/a
27	BCL11A	chr8:6274723-6275701	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:6275121-6275398	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:6285852-6286733	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:6283823-6284198	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:6286215-6286704	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:6283749-6284137	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:6285823-6286135	GM12878	blood:	n/a	n/a
34	BCL3	chr8:6286161-6286810	GM12878	blood:	n/a	n/a
35	BCL3	chr8:6286275-6286686	GM12878	blood:	n/a	n/a
36	BCLAF1	chr8:6286120-6286988	GM12878	blood:	n/a	n/a
37	BCLAF1	chr8:6283732-6284270	GM12878	blood:	n/a	n/a
38	BCLAF1	chr8:6275116-6275837	GM12878	blood:	n/a	n/a
39	BCLAF1	chr8:6263829-6264318	GM12878	blood:	n/a	chr8:6264126-6264139
40	BCLAF1	chr8:6285768-6287006	GM12878	blood:	n/a	n/a
41	BCLAF1	chr8:6274613-6275965	GM12878	blood:	n/a	n/a
42	BCLAF1	chr8:6283746-6284275	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:6263973-6264241	HepG2	liver:	n/a	n/a
44	BHLHE40	chr8:6274528-6275764	GM12878	blood:	n/a	n/a
45	BHLHE40	chr8:6287351-6287413	K562	blood:	n/a	n/a
46	BHLHE40	chr8:6285914-6286936	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:6263950-6264244	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:6281558-6281781	GM12878	blood:	n/a	n/a
49	BHLHE40	chr8:6264014-6264335	K562	blood:	n/a	n/a
50	BHLHE40	chr8:6285899-6287073	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6282955-6283005	Caco-2	colon:	n/a
2	chr8:6264181-6264231	K562	blood:	n/a
3	chr8:6264959-6265009	Jurkat	blood:	n/a
4	chr8:6264171-6264221	Caco-2	colon:	n/a
5	chr8:6263789-6263839	MCF10A-Er-Src	breast:	n/a
6	chr8:6263268-6263318	AG04449	skin:	fetal
7	chr8:6263268-6263318	GM19239	blood:	n/a
8	chr8:6282955-6283005	HIPEpiC	eye:	n/a
9	chr8:6263789-6263839	SK-N-SH_RA	brain:	n/a
10	chr8:6264959-6265009	NHDF-neo	bronchial:	n/a
11	chr8:6287904-6287954	PrEC	prostate:	n/a
12	chr8:6263363-6263413	MCF10A-Er-Src	breast:	n/a
13	chr8:6263363-6263413	RPTEC	kidney:	n/a
14	chr8:6263268-6263318	NB4	blood:	n/a
15	chr8:6264959-6265009	CMK	blood:	n/a
16	chr8:6264181-6264231	HepG2	liver:	n/a
17	chr8:6264181-6264231	AG09309	skin:	n/a
18	chr8:6264193-6264243	H1-hESC	embryonic stem cell:	embryo
19	chr8:6282955-6283005	HCM	heart:	n/a
20	chr8:6263268-6263318	HCM	heart:	n/a
21	chr8:6263875-6263925	PFSK-1	brain:	n/a
22	chr8:6263363-6263413	GM19239	blood:	n/a
23	chr8:6282955-6283005	AG10803	skin:	n/a
24	chr8:6263789-6263839	ECC-1	luminal epithelium:	n/a
25	chr8:6263268-6263318	HEK293	kidney:	embryo
26	chr8:6263789-6263839	GM12878	blood:	n/a
27	chr8:6263875-6263925	Hela-S3	cervix:	n/a
28	chr8:6264959-6265009	AG09319	gingival:	n/a
29	chr8:6264193-6264243	HUVEC	blood vessel:	n/a
30	chr8:6264171-6264221	SK-N-MC	brain:	n/a
31	chr8:6264181-6264231	AG04450	lung:	fetal
32	chr8:6263875-6263925	HCPEpiC	choroid plexus:	n/a
33	chr8:6282955-6283005	HRCEpiC	kidney:	n/a
34	chr8:6263268-6263318	HMEC	breast:	n/a
35	chr8:6263268-6263318	GM12891	blood:	n/a
36	chr8:6263623-6263673	GM12878	blood:	n/a
37	chr8:6263875-6263925	NT2-D1	testis:	n/a
38	chr8:6263623-6263673	HAEpiC	amniotic membrane:	n/a
39	chr8:6263268-6263318	PrEC	prostate:	n/a
40	chr8:6263623-6263673	ovcar-3	ovarian:	n/a
41	chr8:6264193-6264243	Caco-2	colon:	n/a
42	chr8:6287904-6287954	HNPCEpiC	eye:	n/a
43	chr8:6264193-6264243	NB4	blood:	n/a
44	chr8:6263789-6263839	AG10803	skin:	n/a
45	chr8:6287904-6287954	HCT-116	colon:	n/a
46	chr8:6264193-6264243	HIPEpiC	eye:	n/a
47	chr8:6264193-6264243	ECC-1	luminal epithelium:	n/a
48	chr8:6264193-6264243	PrEC	prostate:	n/a
49	chr8:6282955-6283005	HRPEpiC	eye:	n/a
50	chr8:6263875-6263925	AG09319	gingival:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6280706..6282253-chr8:6565976..6568022,2	K562	blood:
2	chr8:6281302..6282067-chr8:6658057..6658859,2	MCF-7	breast:
3	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:
4	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:
5	chr8:6285464..6288077-chr8:6414656..6417304,2	K562	blood:
6	chr8:6281170..6282061-chr8:6636804..6637878,7	K562	blood:
7	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
8	chr8:6260743..6265726-chr8:6271007..6273930,5	K562	blood:
9	chr8:6264145..6266520-chr8:6281324..6283294,2	K562	blood:
10	chr8:6281660..6282170-chr8:6637148..6637690,2	MCF-7	breast:
11	chr8:6281436..6282039-chr8:6539712..6540563,2	MCF-7	breast:
12	chr8:6264019..6265631-chr8:6276024..6277548,2	K562	blood:
13	chr8:6267107..6268741-chr8:6565301..6567337,2	K562	blood:
14	chr8:6257664..6260408-chr8:6262144..6263812,2	MCF-7	breast:
15	chr8:6277390..6279333-chr8:6576770..6578776,2	K562	blood:
16	chr8:6280318..6283443-chr8:6285224..6287821,3	MCF-7	breast:
17	chr8:6262451..6265274-chr8:6277590..6279636,2	MCF-7	breast:
18	chr8:6282250..6282973-chr8:6539904..6540599,2	MCF-7	breast:
19	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
20	chr8:6281453..6284315-chr8:6428967..6430752,3	K562	blood:
21	chr8:6263426..6264997-chr8:6273721..6275248,2	MCF-7	breast:
22	chr8:6277995..6281670-chr8:6564311..6568348,3	MCF-7	breast:
23	chr8:6275765..6277346-chr8:6279948..6281566,2	K562	blood:
24	chr8:6281176..6281768-chr8:6657921..6658559,2	K562	blood:
25	chr8:6275765..6277346-chr8:6279948..6281566,2	K562	blood:
26	chr8:6280960..6282945-chr8:6426818..6429637,2	K562	blood:
27	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
28	chr8:6282447..6283252-chr8:6539685..6540602,2	K562	blood:
29	chr8:6266687..6268429-chr8:6271780..6273371,2	K562	blood:
30	chr8:6286838..6288405-chr8:6317627..6319306,2	K562	blood:
31	chr8:6282319..6282937-chr8:6658301..6658907,2	MCF-7	breast:
32	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
33	chr8:6262086..6265734-chr8:6266423..6270611,6	MCF-7	breast:
34	chr8:6266687..6268429-chr8:6271780..6273371,2	K562	blood:
35	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:
36	chr8:6286039..6288419-chr8:6293741..6296990,3	K562	blood:
37	chr17:49196178..49198302-chr8:6264048..6265705,2	K562	blood:
38	chr8:6286159..6289308-chr8:6294471..6296990,3	K562	blood:
39	chr8:6269409..6272361-chr8:6283113..6285800,2	K562	blood:
40	chr8:6263561..6264353-chrX:135962392..135963076,2	NB4	blood:
41	chr8:6274685..6276639-chr8:6565162..6567770,2	MCF-7	breast:
42	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:
43	chr8:6261231..6262782-chr8:6268049..6270486,2	K562	blood:
44	chr8:6282837..6283344-chr8:6657975..6658871,2	K562	blood:
45	chr8:6280717..6283066-chr8:6285737..6287533,2	K562	blood:
46	chr8:6286384..6290104-chr8:6563339..6566818,4	MCF-7	breast:
47	chr8:6283795..6285745-chr8:6287831..6290125,2	K562	blood:
48	chr8:6281135..6282131-chr8:6429461..6430416,3	K562	blood:
49	chr8:6269409..6272361-chr8:6283113..6285800,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-2	chr8:6262438-6264096	NONHSAT124771
2	lnc-ANGPT2-2	chr8:6263118-6263892	ENSG00000246089
3	lnc-ANGPT2-2	chr8:6264603-6264663	ENSG00000246089
4	lnc-ANGPT2-2	chr8:6264049-6264229	ENSG00000246089
5	lnc-ANGPT2-2	chr8:6264049-6264055	XLOC_006985
6	lnc-ANGPT2-2	chr8:6262449-6263892	XLOC_006985
7	lnc-ANGPT2-2	chr8:6263227-6264069	XLOC_006985
8	lnc-ANGPT2-2	chr8:6263227-6264069	NR_040040
9	lnc-ANGPT2-2	chr8:6262927-6264063	ENSG00000246089.3

No data

Variant related genes	Relation type
MCPH1	TF binding region
ENSG00000246089	TF binding region
MCPH1	CpG island
ENSG00000246089	CpG island
ENSG00000155189	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000249898	chromatin interactions
ENSG00000147274	chromatin interactions
ENSG00000008294	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 1967 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1967 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1057187	chr8:6263083-6263084	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs725441	chr8:6263136-6263137	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140615459	chr8:6263151-6263152	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs188770596	chr8:6263166-6263167	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs547898033	chr8:6263193-6263194	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs546691284	chr8:6263200-6263201	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs192801010	chr8:6263201-6263202	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs533676287	chr8:6263206-6263207	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs116480750	chr8:6263213-6263214	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs11783038	chr8:6263246-6263247	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs58969519	chr8:6263289-6263290	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs556284237	chr8:6263301-6263302	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs34796322	chr8:6263306-6263307	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs2243661	chr8:6263307-6263308	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs2243662	chr8:6263326-6263327	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572449519	chr8:6263342-6263343	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs538111009	chr8:6263344-6263345	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs181164016	chr8:6263350-6263351	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs55897706	chr8:6263353-6263354	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114433682	chr8:6263368-6263369	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs184599437	chr8:6263378-6263379	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs529577663	chr8:6263391-6263392	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs145613293	chr8:6263423-6263424	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs138235498	chr8:6263432-6263433	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs188915864	chr8:6263434-6263435	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs181586383	chr8:6263441-6263442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs570224797	chr8:6263464-6263465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs2515485	chr8:6263465-6263466	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs186561433	chr8:6263482-6263483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs569816341	chr8:6263490-6263491	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs535409958	chr8:6263523-6263524	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs555693745	chr8:6263536-6263537	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs572510541	chr8:6263542-6263543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs112514946	chr8:6263558-6263559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs558137411	chr8:6263585-6263586	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs191914148	chr8:6263623-6263624	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs543862869	chr8:6263635-6263636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs563765680	chr8:6263641-6263642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs529469041	chr8:6263643-6263644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs539850815	chr8:6263644-6263645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs559609013	chr8:6263663-6263664	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs372114053	chr8:6263693-6263694	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs150163071	chr8:6263699-6263700	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs138664039	chr8:6263703-6263704	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs114437555	chr8:6263706-6263707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs532902570	chr8:6263716-6263717	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs549824255	chr8:6263772-6263773	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs569795183	chr8:6263783-6263784	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs180999762	chr8:6263796-6263797	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs149296889	chr8:6263799-6263800	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
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
Epilepsy	22083797	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1663 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6256400-6263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:6258600-6263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6260400-6263200	Weak transcription	Pancreas	Pancrea
4	chr8:6262000-6265200	Active TSS	GM12878-XiMat	blood
5	chr8:6262200-6265400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:6262400-6263200	Flanking Active TSS	HMEC	breast
7	chr8:6262400-6263600	Flanking Active TSS	Dnd41	blood
8	chr8:6262600-6263200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:6262600-6263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:6262600-6265200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:6262800-6263200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:6262800-6263200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr8:6262800-6263200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:6262800-6263200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr8:6262800-6263200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:6262800-6263200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:6262800-6263200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:6262800-6263200	Active TSS	Right Atrium	heart
19	chr8:6262800-6263200	Enhancers	Stomach Mucosa	stomach
20	chr8:6262800-6263200	Active TSS	Stomach Smooth Muscle	stomach
21	chr8:6262800-6263200	Flanking Active TSS	A549	lung
22	chr8:6262800-6263200	Flanking Active TSS	Hela-S3	cervix
23	chr8:6262800-6263200	Flanking Active TSS	HepG2	liver
24	chr8:6262800-6263200	Flanking Active TSS	K562	blood
25	chr8:6262800-6263200	Flanking Active TSS	NHEK	skin
26	chr8:6262800-6263200	Flanking Active TSS	Osteobl	bone
27	chr8:6262800-6263400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:6262800-6263400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:6262800-6263400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:6262800-6263400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr8:6262800-6263400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:6262800-6263400	Enhancers	Fetal Heart	heart
33	chr8:6262800-6263400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:6262800-6263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:6262800-6263600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:6262800-6263800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:6262800-6264600	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr8:6262800-6264800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr8:6262800-6264800	Active TSS	Brain Angular Gyrus	brain
41	chr8:6262800-6264800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:6262800-6265000	Active TSS	NHLF	lung
43	chr8:6262800-6265200	Active TSS	Brain Anterior Caudate	brain
44	chr8:6262800-6265200	Active TSS	Fetal Kidney	kidney
45	chr8:6262800-6265400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr8:6262800-6265400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:6262800-6265400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:6262800-6265600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:6263000-6263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:6263000-6263200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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