Variant report

Variant	rs10120113
Chromosome Location	chr9:2012767-2012768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr9:2012164-2012988	GM12878	blood:	n/a	n/a
2	BCLAF1	chr9:2012177-2012878	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
3	CUX1	chr9:2012364-2012997	GM12878	blood:	n/a	n/a
4	MEF2A	chr9:2012170-2012818	GM12878	blood:	n/a	n/a
5	MTA3	chr9:2012150-2013006	GM12878	blood:	n/a	n/a
6	NFIC	chr9:2012049-2012971	GM12878	blood:	n/a	n/a
7	ZNF384	chr9:2012416-2012800	GM12878	blood:	n/a	n/a
8	CHD2	chr9:2012223-2012805	GM12878	blood:	n/a	n/a
9	CEBPB	chr9:2012007-2013098	GM12878	blood:	n/a	n/a
10	NFIC	chr9:2011828-2013133	GM12878	blood:	n/a	n/a
11	NFATC1	chr9:2012112-2012984	GM12878	blood:	n/a	n/a
12	EBF1	chr9:2012154-2013282	GM12878	blood:	n/a	chr9:2013083-2013092
13	RCOR1	chr9:2012277-2012901	GM12878	blood:	n/a	n/a
14	FOXM1	chr9:2012102-2012950	GM12878	blood:	n/a	n/a
15	MAZ	chr9:2012309-2012880	GM12878	blood:	n/a	chr9:2012493-2012502
16	POLR2A	chr9:2012582-2013037	GM12878	blood:	n/a	n/a
17	MEF2A	chr9:2012123-2012860	GM12878	blood:	n/a	n/a
18	RUNX3	chr9:2012054-2012997	GM12878	blood:	n/a	n/a
19	BCL3	chr9:2012231-2012873	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
20	PAX5	chr9:2012209-2012777	GM12878	blood:	n/a	chr9:2012462-2012471
21	PML	chr9:2012100-2013084	GM12878	blood:	n/a	chr9:2012494-2012503 chr9:2012491-2012500
22	NFATC1	chr9:2012181-2012907	GM12878	blood:	n/a	n/a
23	BCLAF1	chr9:2012286-2012871	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
24	TBL1XR1	chr9:2012200-2012845	GM12878	blood:	n/a	n/a
25	FOXM1	chr9:2012051-2013013	GM12878	blood:	n/a	n/a
26	SMC3	chr9:2012376-2012866	GM12878	blood:	n/a	n/a
27	BHLHE40	chr9:2012316-2012820	GM12878	blood:	n/a	n/a
28	RUNX3	chr9:2012194-2012872	GM12878	blood:	n/a	n/a
29	STAT1	chr9:2012284-2012769	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
30	BATF	chr9:2012130-2012836	GM12878	blood:	n/a	chr9:2012489-2012500 chr9:2012494-2012504
31	NFYB	chr9:2012405-2012877	GM12878	blood:	n/a	n/a
32	STAT3	chr9:2012145-2012956	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
33	FOS	chr9:2012322-2012885	MCF10A-Er-Src	breast:	n/a	chr9:2012493-2012501 chr9:2012493-2012500 chr9:2012678-2012685 chr9:2012492-2012501 chr9:2012493-2012502
34	ATF2	chr9:2012168-2013278	GM12878	blood:	n/a	n/a
35	EP300	chr9:2012273-2012966	GM12878	blood:	n/a	chr9:2012492-2012501 chr9:2012733-2012747 chr9:2012493-2012502
36	MXI1	chr9:2012278-2013493	GM12878	blood:	n/a	n/a
37	EP300	chr9:2012215-2013233	GM12878	blood:	n/a	chr9:2012492-2012501 chr9:2012733-2012747 chr9:2012493-2012502
38	ATF2	chr9:2012174-2012977	GM12878	blood:	n/a	n/a
39	MTA3	chr9:2012074-2013140	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2006630..2009336-chr9:2010265..2012993,2	K562	blood:
2	chr9:1981753..1984012-chr9:2012148..2014267,2	K562	blood:
3	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:

Variant related genes	Relation type
SMARCA2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10120386	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs62534880	0.83[ASN][1000 genomes]
rs62534881	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892047	chr9:1888703-2018825	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv892052	chr9:1980819-2072470	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2830420	chr9:1998911-2119702	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv613079	chr9:2012767-2059341	Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2005800-2014200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:2009200-2013600	Weak transcription	Right Atrium	heart
3	chr9:2009400-2013600	Weak transcription	Liver	Liver
4	chr9:2011600-2014600	Weak transcription	Lung	lung
5	chr9:2012000-2014200	Flanking Active TSS	GM12878-XiMat	blood
6	chr9:2012600-2012800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:2012600-2012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:2012600-2012800	Bivalent Enhancer	HepG2	liver
9	chr9:2012600-2012800	Flanking Active TSS	K562	blood
10	chr9:2012600-2014000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links