Variant report

Variant	esv3375619
Chromosome Location	chr10:5706746-5711044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:610)
Chromatin interactive
region (count:29)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:5707453-5707725	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:5710369-5710645	HepG2	liver:	n/a	n/a
3	ATF3	chr10:5708448-5708805	K562	blood:	n/a	n/a
4	ATF3	chr10:5708504-5708755	HepG2	liver:	n/a	n/a
5	ATF3	chr10:5708602-5709006	A549	lung:	n/a	n/a
6	BACH1	chr10:5707878-5708540	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr10:5708804-5709189	GM12878	blood:	n/a	n/a
8	BCL3	chr10:5708858-5709224	GM12878	blood:	n/a	n/a
9	BHLHE40	chr10:5708587-5709192	K562	blood:	n/a	n/a
10	BHLHE40	chr10:5708641-5709243	HepG2	liver:	n/a	n/a
11	BHLHE40	chr10:5707876-5708313	K562	blood:	n/a	n/a
12	BHLHE40	chr10:5707938-5708371	HepG2	liver:	n/a	n/a
13	BRCA1	chr10:5708655-5708931	HepG2	liver:	n/a	n/a
14	BRCA1	chr10:5708541-5708817	H1-hESC	embryonic stem cell:	n/a	n/a
15	CCNT2	chr10:5707836-5708803	K562	blood:	n/a	n/a
16	CEBPB	chr10:5708056-5708323	K562	blood:	n/a	n/a
17	CEBPB	chr10:5707691-5708058	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr10:5708056-5708280	HepG2	liver:	n/a	n/a
19	CEBPB	chr10:5707616-5708530	ECC-1	luminal epithelium:	n/a	chr10:5707632-5707643
20	CEBPB	chr10:5707556-5708606	A549	lung:	n/a	chr10:5707632-5707643
21	CEBPB	chr10:5708092-5708346	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr10:5707740-5708291	HepG2	liver:	n/a	n/a
23	CEBPB	chr10:5707661-5708395	HepG2	liver:	n/a	n/a
24	CEBPB	chr10:5707648-5708400	A549	lung:	n/a	n/a
25	CEBPB	chr10:5707396-5708828	Hela-S3	cervix:	n/a	chr10:5707632-5707643
26	CEBPB	chr10:5707691-5708547	MCF-7	breast:	n/a	n/a
27	CEBPB	chr10:5707682-5708415	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr10:5707621-5708410	K562	blood:	n/a	chr10:5707632-5707643
29	CEBPB	chr10:5707794-5708710	HepG2	liver:	n/a	n/a
30	CEBPB	chr10:5707600-5708378	K562	blood:	n/a	chr10:5707632-5707643
31	CEBPB	chr10:5707615-5708380	A549	lung:	n/a	chr10:5707632-5707643
32	CEBPB	chr10:5707642-5708393	IMR90	lung:	n/a	n/a
33	CEBPB	chr10:5707612-5708432	MCF-7	breast:	n/a	chr10:5707632-5707643
34	CEBPD	chr10:5708192-5708707	HepG2	liver:	n/a	n/a
35	CHD2	chr10:5708383-5708857	K562	blood:	n/a	n/a
36	CHD2	chr10:5708549-5709109	HepG2	liver:	n/a	n/a
37	CHD2	chr10:5708485-5708776	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr10:5708490-5708868	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr10:5707851-5708026	Hela-S3	cervix:	n/a	n/a
40	CREB1	chr10:5708378-5708883	GM12878	blood:	n/a	n/a
41	CREB1	chr10:5708455-5708745	A549	lung:	n/a	n/a
42	CREB1	chr10:5708000-5709299	HepG2	liver:	n/a	n/a
43	CREB1	chr10:5708340-5708823	A549	lung:	n/a	n/a
44	CREB1	chr10:5708383-5709009	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr10:5708368-5708964	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr10:5708369-5709199	HepG2	liver:	n/a	n/a
47	CREB1	chr10:5708362-5708987	K562	blood:	n/a	n/a
48	CREB1	chr10:5707941-5708998	K562	blood:	n/a	n/a
49	CTCF	chr10:5707997-5708048	MCF-7	breast:	n/a	n/a
50	CTCF	chr10:5708580-5708730	GM12872	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5708797-5708847	HNPCEpiC	eye:	n/a
2	chr10:5707799-5707849	NHDF-neo	bronchial:	n/a
3	chr10:5707799-5707849	HCM	heart:	n/a
4	chr10:5707799-5707849	GM12892	blood:	n/a
5	chr10:5708731-5708781	PrEC	prostate:	n/a
6	chr10:5708327-5708377	SK-N-MC	brain:	n/a
7	chr10:5708327-5708377	GM06990	blood:	n/a
8	chr10:5708881-5708931	HCT-116	colon:	n/a
9	chr10:5708765-5708815	SAEC	small airway:	n/a
10	chr10:5708327-5708377	HEK293	kidney:	embryo
11	chr10:5708731-5708781	GM12892	blood:	n/a
12	chr10:5707981-5708031	AG09319	gingival:	n/a
13	chr10:5708674-5708724	SKMC	muscle:	n/a
14	chr10:5708765-5708815	PFSK-1	brain:	n/a
15	chr10:5707981-5708031	GM12891	blood:	n/a
16	chr10:5708797-5708847	MCF-7	breast:	n/a
17	chr10:5708881-5708931	Hela-S3	cervix:	n/a
18	chr10:5708731-5708781	T-47D	breast:	n/a
19	chr10:5708765-5708815	CMK	blood:	n/a
20	chr10:5708797-5708847	HRPEpiC	eye:	n/a
21	chr10:5708881-5708931	HCPEpiC	choroid plexus:	n/a
22	chr10:5707799-5707849	AG10803	skin:	n/a
23	chr10:5708674-5708724	HL-60	blood:	n/a
24	chr10:5708797-5708847	IMR90	lung:	fetal
25	chr10:5708797-5708847	BJ	skin:	n/a
26	chr10:5708825-5708875	HCM	heart:	n/a
27	chr10:5708765-5708815	HCT-116	colon:	n/a
28	chr10:5710888-5710938	MCF-7	breast:	n/a
29	chr10:5710888-5710938	Hepatocyte	liver:	n/a
30	chr10:5708731-5708781	NHBE	bronchial:	n/a
31	chr10:5708881-5708931	GM12892	blood:	n/a
32	chr10:5707981-5708031	SK-N-SH	brain:	n/a
33	chr10:5707981-5708031	HCM	heart:	n/a
34	chr10:5708765-5708815	HPAEpiC	pulmonary alveolar:	n/a
35	chr10:5708881-5708931	AG04449	skin:	fetal
36	chr10:5707981-5708031	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:5708731-5708781	A549	lung:	n/a
38	chr10:5708881-5708931	MCF-7	breast:	n/a
39	chr10:5708881-5708931	HEK293	kidney:	embryo
40	chr10:5708674-5708724	Jurkat	blood:	n/a
41	chr10:5708327-5708377	RPTEC	kidney:	n/a
42	chr10:5708731-5708781	AG09309	skin:	n/a
43	chr10:5708731-5708781	BE2_C	brain:	n/a
44	chr10:5708731-5708781	HRE	kidney:	n/a
45	chr10:5707981-5708031	NHDF-neo	bronchial:	n/a
46	chr10:5708674-5708724	NHBE	bronchial:	n/a
47	chr10:5708881-5708931	SK-N-MC	brain:	n/a
48	chr10:5710888-5710938	ProgFib	skin:	n/a
49	chr10:5708825-5708875	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:5708327-5708377	ovcar-3	ovarian:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5672469..5675172-chr10:5707074..5708649,2	K562	blood:
2	chr10:5707719..5709670-chr10:5755550..5758097,2	MCF-7	breast:
3	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
4	chr10:5534278..5536175-chr10:5709413..5711333,2	MCF-7	breast:
5	chr10:5682936..5684955-chr10:5707223..5709652,2	MCF-7	breast:
6	chr10:5693035..5694610-chr10:5707136..5708829,2	MCF-7	breast:
7	chr10:5708731..5711725-chr10:5733293..5735227,2	MCF-7	breast:
8	chr10:5707177..5709381-chr10:5931479..5933432,3	MCF-7	breast:
9	chr10:5696591..5698219-chr10:5706106..5707832,2	K562	blood:
10	chr10:5659171..5662010-chr10:5707160..5709672,2	MCF-7	breast:
11	chr10:5694251..5695909-chr10:5704918..5707656,2	K562	blood:
12	chr10:5706900..5709374-chr10:5740250..5741979,2	MCF-7	breast:
13	chr10:5708098..5708636-chr5:43483746..43484576,2	Hela-S3	cervix:
14	chr10:5704732..5708288-chr10:5710770..5713628,5	K562	blood:
15	chr10:5707157..5710880-chr10:5853405..5856185,3	K562	blood:
16	chr10:5691219..5693694-chr10:5706407..5709884,5	K562	blood:
17	chr10:5710108..5711995-chr10:5854432..5856074,2	MCF-7	breast:
18	chr10:5704788..5710194-chr10:5724908..5728833,8	K562	blood:
19	chr10:5487870..5492604-chr10:5704699..5710397,11	MCF-7	breast:
20	chr10:5706894..5712025-chr10:5724987..5728504,7	MCF-7	breast:
21	chr10:5704182..5707347-chr10:5769975..5772596,3	MCF-7	breast:
22	chr10:5707419..5708953-chr10:5931052..5933501,2	MCF-7	breast:
23	chr10:5708441..5709982-chr10:5853880..5856185,2	K562	blood:
24	chr10:5704732..5708288-chr10:5710770..5713628,5	K562	blood:
25	chr10:5691710..5696017-chr10:5704918..5709884,5	K562	blood:
26	chr10:5708283..5708927-chr16:31470241..31471151,2	Hela-S3	cervix:
27	chr10:5707879..5710257-chr22:29195153..29198012,2	MCF-7	breast:
28	chr10:5539704..5542101-chr10:5707355..5709721,2	MCF-7	breast:
29	chr10:5486439..5489849-chr10:5706503..5709188,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM208B-4	chr10:5707186-5707298	l_247_chr10:5707185-5708703_testes
2	lnc-FAM208B-4	chr10:5707823-5708703	l_247_chr10:5707185-5708703_testes
3	lnc-FAM208B-4	chr10:5707302-5707309	l_247_chr10:5707185-5708703_testes

No data

Variant related genes	Relation type
ASB13	TF binding region
ASB13	CpG island
ENSG00000151881	chromatin interactions
ENSG00000272764	chromatin interactions
ENSG00000134461	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000226471	chromatin interactions
ENSG00000240577	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000226647	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000228951	chromatin interactions
ENSG00000057608	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000178372	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534237180	chr10:5706829-5706830	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs190614689	chr10:5706901-5706902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556943442	chr10:5706916-5706917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs7078798	chr10:5706929-5706930	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12572930	chr10:5706937-5706938	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563038140	chr10:5706980-5706981	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs578042317	chr10:5707000-5707001	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs4492710	chr10:5707020-5707021	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371891563	chr10:5707029-5707030	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564150974	chr10:5707042-5707043	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs34316429	chr10:5707104-5707105	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528264148	chr10:5707129-5707130	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546950403	chr10:5707144-5707145	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181957551	chr10:5707155-5707156	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs528945046	chr10:5707199-5707200	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs183861933	chr10:5707219-5707220	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs527908922	chr10:5707226-5707227	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs550586782	chr10:5707273-5707274	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs546275712	chr10:5707302-5707303	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs561488241	chr10:5707366-5707367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs539179751	chr10:5707375-5707376	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs147680040	chr10:5707421-5707422	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs534689156	chr10:5707492-5707493	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs566987640	chr10:5707507-5707508	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs528879108	chr10:5707514-5707515	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs554611902	chr10:5707544-5707545	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs550503081	chr10:5707646-5707647	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs574453498	chr10:5707701-5707702	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs79682915	chr10:5707761-5707762	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs188182796	chr10:5707780-5707781	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs568769589	chr10:5707822-5707823	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs367829431	chr10:5707850-5707851	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
33	rs538107430	chr10:5707882-5707883	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
34	rs556288682	chr10:5707897-5707898	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs7078044	chr10:5707953-5707954	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9424166	chr10:5707969-5707970	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560622642	chr10:5707975-5707976	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
38	rs75365661	chr10:5707976-5707977	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	mRNA abundance
39	rs540428194	chr10:5707981-5707982	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
40	rs561453117	chr10:5708022-5708023	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
41	rs4747997	chr10:5708077-5708078	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140542113	chr10:5708118-5708119	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
43	rs112376553	chr10:5708121-5708122	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
44	rs111703801	chr10:5708127-5708128	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
45	rs550821765	chr10:5708133-5708134	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
46	rs562357164	chr10:5708138-5708139	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
47	rs532923755	chr10:5708153-5708154	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
48	rs376541555	chr10:5708188-5708189	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
49	rs551216475	chr10:5708202-5708203	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
50	rs566226679	chr10:5708224-5708225	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5684200-5707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:5684400-5707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:5687600-5707400	Weak transcription	Fetal Kidney	kidney
4	chr10:5688800-5707600	Weak transcription	Aorta	Aorta
5	chr10:5689000-5707200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:5693200-5707400	Weak transcription	Brain Substantia Nigra	brain
7	chr10:5693400-5707400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:5693400-5707600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:5693600-5707400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:5694800-5707400	Weak transcription	Brain Angular Gyrus	brain
11	chr10:5698000-5707600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:5699800-5707000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:5699800-5707200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr10:5699800-5707400	Weak transcription	Primary T cells from cord blood	blood
15	chr10:5699800-5707600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:5702000-5707800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:5702000-5707800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr10:5702200-5707200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:5702200-5707200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:5702200-5707400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:5702200-5707400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:5702200-5707600	Weak transcription	HSMM	muscle
23	chr10:5702400-5707000	Weak transcription	Psoas Muscle	Psoas
24	chr10:5702400-5707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:5702400-5707200	Weak transcription	Osteobl	bone
26	chr10:5702400-5707400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr10:5702400-5707600	Weak transcription	Right Ventricle	heart
28	chr10:5702400-5707800	Weak transcription	Left Ventricle	heart
29	chr10:5702600-5707000	Weak transcription	Adipose Nuclei	Adipose
30	chr10:5702600-5707000	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:5702600-5707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:5702600-5707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:5702600-5707200	Weak transcription	HMEC	breast
34	chr10:5702600-5707200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:5702600-5707400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:5702600-5707400	Weak transcription	K562	blood
37	chr10:5702600-5707400	Weak transcription	NH-A	brain
38	chr10:5702600-5707400	Weak transcription	NHLF	lung
39	chr10:5702600-5707800	Weak transcription	Esophagus	oesophagus
40	chr10:5702600-5707800	Weak transcription	Gastric	stomach
41	chr10:5702800-5707000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr10:5702800-5707000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:5702800-5707200	Weak transcription	NHEK	skin
44	chr10:5702800-5707400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:5702800-5707400	Weak transcription	Hela-S3	cervix
46	chr10:5702800-5707800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:5703000-5707000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr10:5703000-5707400	Weak transcription	Spleen	Spleen
49	chr10:5703000-5707600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:5703000-5707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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