Variant report

Variant	rs12313493
Chromosome Location	chr12:9175109-9175110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313494	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314310	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317136	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917943	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917957	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805696	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28769384	1.00[ASN][1000 genomes]
rs3026237	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026240	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882973	1.00[ASN][1000 genomes]
rs4882974	1.00[ASN][1000 genomes]
rs4883205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4883207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883210	1.00[CEU][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310680	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7311509	0.80[YRI][hapmap]
rs7312460	1.00[ASN][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv973020	chr12:9163929-9182709	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9165800-9182400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:9168600-9175200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9169000-9176000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:9171000-9177000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9173400-9175400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:9174400-9177200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:9174400-9181800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:9174600-9177000	Enhancers	Primary T cells from cord blood	blood
9	chr12:9174600-9177200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:9174600-9177400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:9174800-9177200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:9174800-9177200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:9174800-9177200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:9174800-9185800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:9175000-9177000	Enhancers	Primary T helper cells PMA-I stimulated	--

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