Variant report

Variant	rs2247291
Chromosome Location	chr12:122284715-122284716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122283312..122286212-chr12:122291727..122293829,2	K562	blood:
2	chr12:122238817..122240677-chr12:122284613..122286300,2	K562	blood:
3	chr12:122277992..122280217-chr12:122283383..122286165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10840626	0.80[ASN][1000 genomes]
rs10840627	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11043222	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1154510	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1154515	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11614623	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1169077	0.82[CEU][hapmap]
rs1169085	0.82[CEU][hapmap]
rs1169093	0.82[CEU][hapmap]
rs1182927	0.82[CEU][hapmap]
rs1185260	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap]
rs1667583	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap]
rs1678960	0.80[JPT][hapmap]
rs1678969	0.84[CEU][hapmap];0.90[TSI][hapmap]
rs1720041	0.82[CEU][hapmap]
rs1720067	0.81[EUR][1000 genomes]
rs1795967	0.82[EUR][1000 genomes]
rs1947826	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2101017	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2230681	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2309274	0.91[EUR][1000 genomes]
rs2596137	0.91[EUR][1000 genomes]
rs2596144	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.90[LWK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2620332	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2620340	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[LWK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2688412	0.88[EUR][1000 genomes]
rs2707056	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707075	0.91[ASN][1000 genomes]
rs4760099	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs493519	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs6486794	0.82[CEU][hapmap]
rs7314056	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7957207	0.91[CEU][hapmap]
rs7961103	0.91[CEU][hapmap]
rs830122	0.82[CEU][hapmap]
rs830124	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs853758	1.00[CEU][hapmap]
rs895958	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[TSI][hapmap]
rs895959	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs9668191	0.92[ASW][hapmap];0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2247291	SETD1B	cis	parietal	SCAN
rs2247291	RNF10	cis	cerebellum	SCAN
rs2247291	CCDC62	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
4	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
6	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122281800-122284800	Weak transcription	Placenta	Placenta
8	chr12:122281800-122286400	Weak transcription	HepG2	liver
9	chr12:122281800-122288600	Strong transcription	Liver	Liver
10	chr12:122282000-122287800	Weak transcription	K562	blood
11	chr12:122283400-122286000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:122284000-122286600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:122284000-122287200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:122284200-122287800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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