Variant report

Variant	rs61386831
Chromosome Location	chr12:1995118-1995119
allele	C/T
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	BHLHE40	chr12:1994817-1995132	K562	blood:	n/a	n/a
2	FOXA1	chr12:1994814-1995243	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:1994794-1995314	HepG2	liver:	n/a	n/a
4	GATA1	chr12:1994636-1995262	PBDE	blood:	n/a	chr12:1994746-1994756
5	FOXA1	chr12:1994818-1995158	HepG2	liver:	n/a	n/a
6	GATA1	chr12:1994624-1995250	K562	blood:	n/a	chr12:1994746-1994756

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1994373..1995913-chr12:1997731..2000184,2	K562	blood:

Variant related genes	Relation type
CACNA2D4	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11829061	0.89[EUR][1000 genomes]
rs11838338	0.89[EUR][1000 genomes]
rs12300820	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765854	0.88[EUR][1000 genomes]
rs4765855	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765856	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58041839	0.89[EUR][1000 genomes]
rs60708075	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60945277	0.89[EUR][1000 genomes]
rs61085710	0.89[EUR][1000 genomes]
rs61457024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297190	0.85[EUR][1000 genomes]
rs73032415	0.94[EUR][1000 genomes]
rs73032423	0.85[EUR][1000 genomes]
rs73032427	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032431	0.85[EUR][1000 genomes]
rs73032438	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73032440	1.00[EUR][1000 genomes]
rs73032452	1.00[EUR][1000 genomes]
rs73036228	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038172	0.94[EUR][1000 genomes]
rs73038195	0.90[EUR][1000 genomes]
rs7308134	0.85[EUR][1000 genomes]
rs737102	0.85[EUR][1000 genomes]
rs758160	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957635	0.85[EUR][1000 genomes]
rs7964656	0.90[EUR][1000 genomes]
rs7966806	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969511	0.96[EUR][1000 genomes]
rs9669070	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv832306	chr12:1847726-2001308	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1989400-1995600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:1993000-1997000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:1993800-1996000	Enhancers	Stomach Mucosa	stomach
4	chr12:1994000-1996000	Enhancers	Gastric	stomach
5	chr12:1994200-1996000	Enhancers	K562	blood
6	chr12:1994800-1995400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:1995000-1995400	Enhancers	Pancreas	Pancrea
8	chr12:1995000-1995400	Flanking Active TSS	HepG2	liver

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