Variant report

Variant	rs2216143
Chromosome Location	chr12:9205540-9205541
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10743598	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771308	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842839	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10842849	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11048839	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs113973	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805666	0.82[CHB][hapmap]
rs1805682	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2193006	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs226380	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226381	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226382	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226386	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226387	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs226388	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226389	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226390	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226391	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226392	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226394	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226400	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226401	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226403	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226408	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs226415	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4882977	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487584	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71453666	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965790	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9199600-9207000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:9199600-9216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:9199800-9216200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:9199800-9216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:9200000-9216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:9200000-9216200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:9200000-9216200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:9200000-9216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:9202000-9216600	Weak transcription	Left Ventricle	heart
12	chr12:9202200-9207400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9202200-9216200	Weak transcription	Primary T cells from cord blood	blood
14	chr12:9202200-9216200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:9202400-9216000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9203600-9205800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:9204200-9205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:9204200-9216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:9205000-9208000	Weak transcription	Primary T cells fromperipheralblood	blood

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