Variant report

Variant	rs12817905
Chromosome Location	chr12:10435987-10435988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10743881	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845099	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs10845104	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053701	0.86[ASN][1000 genomes]
rs11053722	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11612335	0.87[ASN][1000 genomes]
rs12302171	0.83[ASN][1000 genomes]
rs12303774	0.86[ASN][1000 genomes]
rs12304713	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311695	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12315681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315815	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813575	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814085	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12818742	0.85[ASN][1000 genomes]
rs12821332	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12824930	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12828163	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12828540	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829898	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12831232	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12832221	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12832489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206564	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2537765	0.84[ASN][1000 genomes]
rs2537793	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537805	0.90[ASN][1000 genomes]
rs2617128	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617135	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs2617137	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs2927558	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34282122	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34790670	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859528	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34956502	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35510688	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35518026	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868193	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346056	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4365134	0.85[ASN][1000 genomes]
rs4764369	0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs56272210	0.98[ASN][1000 genomes]
rs58700703	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136409	0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs71450031	0.85[ASN][1000 genomes]
rs71450032	0.85[ASN][1000 genomes]
rs71450033	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71450034	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765790	0.88[TSI][hapmap]
rs765792	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7958472	0.87[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7963011	0.86[ASN][1000 genomes]
rs7969664	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv557454	chr12:10417260-10440885	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12817905	KLRK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10398800-10436200	Weak transcription	Placenta	Placenta
2	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart
3	chr12:10435400-10436000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:10435400-10436000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:10435400-10436000	Enhancers	Brain Angular Gyrus	brain
6	chr12:10435400-10436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:10435400-10436400	Enhancers	Brain Anterior Caudate	brain
8	chr12:10435600-10436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10435600-10436000	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr12:10435600-10436000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr12:10435600-10436000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:10435600-10436400	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:10435600-10436600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:10435800-10436000	Enhancers	Brain Substantia Nigra	brain
15	chr12:10435800-10436400	Enhancers	Primary T cells fromperipheralblood	blood

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