Variant report

Variant	esv3321548
Chromosome Location	chr10:22607546-22611844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:622)
CpG islands
(count:854)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:22607243-22607791	K562	blood:	n/a	n/a
2	ARID3A	chr10:22608889-22609254	K562	blood:	n/a	n/a
3	ARID3A	chr10:22610216-22610330	K562	blood:	n/a	n/a
4	ATF3	chr10:22609729-22610026	K562	blood:	n/a	n/a
5	ATF3	chr10:22609854-22609961	GM12878	blood:	n/a	n/a
6	BACH1	chr10:22609291-22609369	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr10:22610158-22610554	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr10:22609645-22609977	GM12878	blood:	n/a	n/a
9	BCLAF1	chr10:22610191-22610611	GM12878	blood:	n/a	chr10:22610456-22610469
10	BCLAF1	chr10:22610094-22610603	K562	blood:	n/a	chr10:22610456-22610469
11	BHLHE40	chr10:22608967-22609443	K562	blood:	n/a	n/a
12	BHLHE40	chr10:22609705-22610556	K562	blood:	n/a	chr10:22609956-22609965 chr10:22609957-22609966 chr10:22609956-22609965 chr10:22610460-22610476
13	BHLHE40	chr10:22609687-22610491	GM12878	blood:	n/a	chr10:22609956-22609965 chr10:22609957-22609966 chr10:22609956-22609965 chr10:22610460-22610476
14	BHLHE40	chr10:22609684-22610598	HepG2	liver:	n/a	chr10:22609956-22609965 chr10:22609957-22609966 chr10:22609956-22609965 chr10:22610460-22610476
15	BRCA1	chr10:22610391-22610555	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr10:22611344-22611388	GM12878	blood:	n/a	n/a
17	CCNT2	chr10:22609289-22610631	K562	blood:	n/a	chr10:22609886-22609895
18	CCNT2	chr10:22610868-22611143	K562	blood:	n/a	n/a
19	CCNT2	chr10:22608480-22608616	K562	blood:	n/a	n/a
20	CEBPD	chr10:22610100-22610453	HepG2	liver:	n/a	n/a
21	CEBPD	chr10:22609518-22610057	HepG2	liver:	n/a	n/a
22	CHD1	chr10:22609087-22609372	GM12878	blood:	n/a	n/a
23	CHD1	chr10:22610189-22610647	GM12878	blood:	n/a	chr10:22610600-22610610
24	CHD1	chr10:22611027-22611142	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr10:22610387-22610472	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr10:22609744-22610623	K562	blood:	n/a	chr10:22610600-22610610
27	CHD2	chr10:22611112-22611420	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr10:22610190-22610433	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr10:22609995-22610519	GM12878	blood:	n/a	n/a
30	CHD2	chr10:22609755-22610542	HepG2	liver:	n/a	n/a
31	CHD2	chr10:22609604-22610602	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr10:22611088-22611146	K562	blood:	n/a	n/a
33	CREB1	chr10:22609539-22610672	A549	lung:	n/a	n/a
34	CREB1	chr10:22609539-22610713	HepG2	liver:	n/a	n/a
35	CREB1	chr10:22609669-22610636	K562	blood:	n/a	n/a
36	CTCF	chr10:22609440-22609590	GM12868	blood:	n/a	n/a
37	CTCF	chr10:22608632-22609164	K562	blood:	n/a	n/a
38	CTCF	chr10:22609740-22609890	GM12865	blood:	n/a	n/a
39	CTCF	chr10:22609731-22609883	K562	blood:	n/a	n/a
40	CTCF	chr10:22610480-22610630	GM12873	blood:	n/a	n/a
41	CTCF	chr10:22609772-22609841	LNCaP	prostate:	n/a	n/a
42	CTCF	chr10:22610472-22610533	Fibrobl	skin:	n/a	n/a
43	CTCF	chr10:22610444-22610527	GM12878	blood:	n/a	n/a
44	CTCF	chr10:22609780-22609930	AG04449	skin:	n/a	n/a
45	CTCF	chr10:22609760-22609880	GM19239	blood:	n/a	n/a
46	CTCF	chr10:22609600-22609619	GM12891	blood:	n/a	n/a
47	CTCF	chr10:22610800-22610950	GM12867	blood:	n/a	n/a
48	CTCF	chr10:22609749-22609907	MCF-7	breast:	n/a	n/a
49	CTCF	chr10:22609590-22609653	MCF-7	breast:	n/a	n/a
50	CTCF	chr10:22609420-22609570	GM12866	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:22609998-22610048	Caco-2	colon:	n/a
2	chr10:22610048-22610098	PFSK-1	brain:	n/a
3	chr10:22608858-22608908	ovcar-3	ovarian:	n/a
4	chr10:22608951-22609001	SK-N-MC	brain:	n/a
5	chr10:22609903-22609953	NHBE	bronchial:	n/a
6	chr10:22608674-22608724	Caco-2	colon:	n/a
7	chr10:22610048-22610098	GM12892	blood:	n/a
8	chr10:22609994-22610044	PrEC	prostate:	n/a
9	chr10:22609903-22609953	H1-hESC	embryonic stem cell:	embryo
10	chr10:22609629-22609679	GM12892	blood:	n/a
11	chr10:22609897-22609947	NHBE	bronchial:	n/a
12	chr10:22609998-22610048	PANC-1	pancreas:	n/a
13	chr10:22609629-22609679	AoSMC	blood vessel:	n/a
14	chr10:22609998-22610048	AG04449	skin:	fetal
15	chr10:22610048-22610098	HAEpiC	amniotic membrane:	n/a
16	chr10:22609629-22609679	BE2_C	brain:	n/a
17	chr10:22609918-22609968	RPTEC	kidney:	n/a
18	chr10:22609897-22609947	HCT-116	colon:	n/a
19	chr10:22609918-22609968	HL-60	blood:	n/a
20	chr10:22607608-22607658	IMR90	lung:	fetal
21	chr10:22608951-22609001	GM12891	blood:	n/a
22	chr10:22609994-22610044	BE2_C	brain:	n/a
23	chr10:22608858-22608908	Jurkat	blood:	n/a
24	chr10:22609994-22610044	T-47D	breast:	n/a
25	chr10:22609998-22610048	HepG2	liver:	n/a
26	chr10:22609629-22609679	MCF-7	breast:	n/a
27	chr10:22610507-22610557	PrEC	prostate:	n/a
28	chr10:22611454-22611504	Hepatocyte	liver:	n/a
29	chr10:22609266-22609316	K562	blood:	n/a
30	chr10:22608674-22608724	SKMC	muscle:	n/a
31	chr10:22609998-22610048	AG04450	lung:	fetal
32	chr10:22608951-22609001	GM12892	blood:	n/a
33	chr10:22608951-22609001	HCM	heart:	n/a
34	chr10:22609897-22609947	NB4	blood:	n/a
35	chr10:22611454-22611504	NHDF-neo	bronchial:	n/a
36	chr10:22608951-22609001	U87	brain:	n/a
37	chr10:22610048-22610098	IMR90	lung:	fetal
38	chr10:22608951-22609001	ovcar-3	ovarian:	n/a
39	chr10:22611454-22611504	NH-A	brain:	n/a
40	chr10:22608858-22608908	NB4	blood:	n/a
41	chr10:22609918-22609968	AG09319	gingival:	n/a
42	chr10:22611454-22611504	AG04450	lung:	fetal
43	chr10:22608858-22608908	HNPCEpiC	eye:	n/a
44	chr10:22609629-22609679	HRCEpiC	kidney:	n/a
45	chr10:22609998-22610048	SK-N-SH_RA	brain:	n/a
46	chr10:22610507-22610557	HCM	heart:	n/a
47	chr10:22608858-22608908	NHBE	bronchial:	n/a
48	chr10:22611454-22611504	IMR90	lung:	fetal
49	chr10:22610048-22610098	CMK	blood:	n/a
50	chr10:22608858-22608908	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:22607781..22611461-chr10:22678220..22681015,4	K562	blood:
2	chr10:22253754..22256487-chr10:22607279..22608984,2	MCF-7	breast:
3	chr10:22536525..22546833-chr10:22602936..22612723,20	MCF-7	breast:
4	chr10:22270244..22271774-chr10:22607853..22610066,2	K562	blood:
5	chr10:22290878..22294421-chr10:22605485..22610213,6	K562	blood:
6	chr10:22607419..22609653-chr10:22662165..22664852,2	K562	blood:
7	chr10:22611719..22614373-chr10:22717545..22719885,2	K562	blood:
8	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:
9	chr10:22607820..22608812-chr3:47823476..47824299,2	Hela-S3	cervix:
10	chr10:22608333..22611559-chr10:22678806..22682635,4	K562	blood:
11	chr10:21760699..21762516-chr10:22607604..22609933,2	MCF-7	breast:
12	chr10:22299957..22302551-chr10:22608056..22610053,2	MCF-7	breast:
13	chr10:22608209..22609987-chr10:22717593..22719148,2	MCF-7	breast:
14	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
15	chr10:22604765..22607634-chr10:22679633..22681364,2	K562	blood:
16	chr10:22482647..22484214-chr10:22607609..22609928,2	K562	blood:
17	chr10:22289174..22294396-chr10:22603847..22611692,9	K562	blood:
18	chr10:21784438..21786291-chr10:22610167..22612882,2	MCF-7	breast:
19	chr10:22288734..22294902-chr10:22609249..22612882,8	MCF-7	breast:
20	chr10:22290732..22293917-chr10:22611433..22614799,4	MCF-7	breast:
21	chr10:22291600..22293553-chr10:22610568..22612192,2	K562	blood:
22	chr10:21823004..21824663-chr10:22608853..22611559,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMI1-3	chr10:22607888-22607947	NONHSAT011742
2	lnc-BMI1-3	chr10:22607230-22607642	NONHSAT011742
3	lnc-BMI1-3	chr10:22607735-22607791	NONHSAT011742

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	COMMD3	hsa-miR-26b-5p	chr10:22607981-22608001
2	COMMD3	hsa-miR-26b-5p	chr10:22608108-22608128

Variant related genes	Relation type
BMI1	TF binding region
BMI1	CpG island
ENSG00000077327	chromatin interactions
ENSG00000173473	chromatin interactions
ENSG00000136770	chromatin interactions
ENSG00000150867	chromatin interactions
ENSG00000204682	chromatin interactions
ENSG00000078403	chromatin interactions
ENSG00000222071	chromatin interactions
ENSG00000272366	chromatin interactions
ENSG00000261671	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371993456	chr10:22607558-22607559	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs565043903	chr10:22607559-22607560	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs185614239	chr10:22607568-22607569	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs189225313	chr10:22607569-22607570	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs201321316	chr10:22607600-22607601	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs138257852	chr10:22607605-22607606	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs369296155	chr10:22607608-22607609	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs372577540	chr10:22607613-22607614	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs201525982	chr10:22607614-22607615	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs143840494	chr10:22607622-22607623	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs147312890	chr10:22607644-22607645	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377289240	chr10:22607645-22607646	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs575871348	chr10:22607663-22607664	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs75238457	chr10:22607668-22607669	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs200890218	chr10:22607681-22607682	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs74123011	chr10:22607723-22607724	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs562571031	chr10:22607743-22607744	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs377619160	chr10:22607747-22607748	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs192630710	chr10:22607749-22607750	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs369223288	chr10:22607811-22607812	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs11012945	chr10:22607829-22607830	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs559222167	chr10:22607831-22607832	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs373229413	chr10:22607855-22607856	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs138203966	chr10:22607872-22607873	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs115904843	chr10:22607881-22607882	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs369311018	chr10:22607893-22607894	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs148388360	chr10:22607901-22607902	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs376503129	chr10:22607925-22607926	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs370953837	chr10:22607936-22607937	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs200718784	chr10:22607954-22607955	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs113136059	chr10:22607960-22607961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs184789317	chr10:22607974-22607975	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs114444907	chr10:22608001-22608002	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	7 gene(s)	Overlapped CNVs	n/a
34	rs3834712	chr10:22608033-22608034	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs149621226	chr10:22608065-22608066	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs536494700	chr10:22608074-22608075	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs553189783	chr10:22608099-22608100	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs566882881	chr10:22608168-22608169	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs60602527	chr10:22608171-22608172	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558696943	chr10:22608200-22608201	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs575554677	chr10:22608204-22608205	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs544506256	chr10:22608215-22608216	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs144347963	chr10:22608261-22608262	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs1125094	chr10:22608284-22608285	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs372416129	chr10:22608296-22608297	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs188525279	chr10:22608317-22608318	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs560712700	chr10:22608500-22608501	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs572872276	chr10:22608542-22608543	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs545050629	chr10:22608627-22608628	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs148761047	chr10:22608650-22608651	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22604400-22608200	Active TSS	K562	blood
2	chr10:22605400-22609400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:22605800-22610000	Weak transcription	Spleen	Spleen
4	chr10:22606000-22608600	Weak transcription	Small Intestine	intestine
5	chr10:22606200-22607800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr10:22606200-22608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:22606200-22608800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:22606200-22608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:22606200-22608800	Weak transcription	Left Ventricle	heart
10	chr10:22606200-22608800	Weak transcription	Pancreas	Pancrea
11	chr10:22606200-22608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:22606200-22609000	Weak transcription	Aorta	Aorta
13	chr10:22606200-22609000	Weak transcription	Placenta	Placenta
14	chr10:22606200-22609000	Weak transcription	Fetal Stomach	stomach
15	chr10:22606200-22609000	Weak transcription	Ovary	ovary
16	chr10:22606200-22609200	Weak transcription	Colonic Mucosa	Colon
17	chr10:22606200-22609200	Weak transcription	Esophagus	oesophagus
18	chr10:22606200-22609200	Weak transcription	Lung	lung
19	chr10:22606200-22609200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:22606400-22607600	Enhancers	Primary hematopoietic stem cells	blood
21	chr10:22606400-22607600	Enhancers	Hela-S3	cervix
22	chr10:22606400-22607800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr10:22606400-22607800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr10:22606400-22608000	Weak transcription	A549	lung
25	chr10:22606400-22608600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:22606400-22608800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:22606400-22608800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:22606400-22608800	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:22606400-22608800	Weak transcription	HSMMtube	muscle
30	chr10:22606400-22609000	Weak transcription	Brain Angular Gyrus	brain
31	chr10:22606400-22609000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:22606400-22609000	Weak transcription	Right Ventricle	heart
33	chr10:22606400-22609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:22606600-22607600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr10:22606600-22608000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:22606600-22608000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr10:22606600-22608600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr10:22606600-22608800	Enhancers	Primary T cells from cord blood	blood
39	chr10:22606600-22608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:22606600-22608800	Weak transcription	Adipose Nuclei	Adipose
41	chr10:22606600-22608800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr10:22606600-22608800	Enhancers	HepG2	liver
43	chr10:22606600-22609000	Enhancers	Fetal Intestine Large	intestine
44	chr10:22606800-22607600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:22606800-22608600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr10:22606800-22608800	Enhancers	Primary B cells from cord blood	blood
47	chr10:22606800-22608800	Weak transcription	Brain Anterior Caudate	brain
48	chr10:22607000-22607600	Enhancers	Duodenum Mucosa	Duodenum
49	chr10:22607000-22607800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:22607000-22608000	Weak transcription	Rectal Mucosa Donor 31	rectum

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