Variant report

Variant	rs11688120
Chromosome Location	chr2:181997950-181997951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10171108	1.00[JPT][hapmap]
rs10171998	1.00[JPT][hapmap]
rs10187842	1.00[JPT][hapmap]
rs10930950	1.00[JPT][hapmap]
rs11692430	0.85[EUR][1000 genomes]
rs11692625	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693055	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11893772	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11893821	0.98[ASN][1000 genomes]
rs12621277	1.00[JPT][hapmap]
rs12989967	1.00[JPT][hapmap]
rs12999974	0.98[ASN][1000 genomes]
rs13004683	0.82[ASN][1000 genomes]
rs13004750	0.84[ASN][1000 genomes]
rs13011738	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011751	0.84[EUR][1000 genomes]
rs13012524	0.84[EUR][1000 genomes]
rs13019038	0.80[ASN][1000 genomes]
rs13020845	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs13026070	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029368	1.00[JPT][hapmap]
rs13031518	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13033038	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13033467	0.98[ASN][1000 genomes]
rs34405919	0.81[AMR][1000 genomes]
rs34467063	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504038	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714467	0.98[ASN][1000 genomes]
rs34774580	0.89[EUR][1000 genomes]
rs34790351	0.81[AMR][1000 genomes]
rs34825850	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35076700	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35323141	0.94[ASN][1000 genomes]
rs35482602	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543145	0.98[ASN][1000 genomes]
rs35702511	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725888	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4346343	0.86[JPT][hapmap]
rs4366861	0.86[JPT][hapmap]
rs4510177	0.84[JPT][hapmap]
rs4514840	0.81[AMR][1000 genomes]
rs4595925	1.00[JPT][hapmap]
rs4667008	0.86[JPT][hapmap]
rs4990275	1.00[JPT][hapmap]
rs55900432	0.98[ASN][1000 genomes]
rs55954384	0.98[ASN][1000 genomes]
rs56692685	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59639779	0.90[ASN][1000 genomes]
rs6433878	1.00[JPT][hapmap]
rs6433883	1.00[JPT][hapmap]
rs6433892	0.86[JPT][hapmap]
rs6704750	1.00[JPT][hapmap]
rs6710650	1.00[JPT][hapmap]
rs6716261	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6719732	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6731268	1.00[JPT][hapmap]
rs6743720	0.88[ASN][1000 genomes]
rs6744130	1.00[JPT][hapmap]
rs6745190	1.00[JPT][hapmap]
rs6746347	0.98[ASN][1000 genomes]
rs6759865	0.98[ASN][1000 genomes]
rs72887083	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72888919	0.89[EUR][1000 genomes]
rs7349232	0.84[ASN][1000 genomes]
rs7371639	1.00[JPT][hapmap]
rs7558428	0.98[ASN][1000 genomes]
rs7559803	1.00[JPT][hapmap]
rs7569991	1.00[JPT][hapmap]
rs7581267	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598960	0.98[ASN][1000 genomes]
rs9808318	1.00[JPT][hapmap]

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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181996600-181998000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr2:181996600-181998200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr2:181996600-181998200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:181996600-181998600	Enhancers	Primary T cells from cord blood	blood
5	chr2:181996600-181999000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:181996600-181999200	Weak transcription	Fetal Thymus	thymus
7	chr2:181996600-182001600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:181997600-182000200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:181997600-182001600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:181997800-181998200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:181997800-181998200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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