Variant report

Variant	rs7301927
Chromosome Location	chr12:22300068-22300069
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10770895	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10841952	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841963	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11046313	0.81[ASN][1000 genomes]
rs11046315	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046324	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11046326	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11046327	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11609387	0.82[ASN][1000 genomes]
rs11833134	0.84[ASN][1000 genomes]
rs12372007	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2080552	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2216297	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4762729	0.81[ASN][1000 genomes]
rs4762730	0.83[ASN][1000 genomes]
rs4762732	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56116819	0.84[ASN][1000 genomes]
rs6487289	0.94[ASN][1000 genomes]
rs7301993	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs759583	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7963066	0.92[ASN][1000 genomes]
rs7964713	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969254	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8181690	0.93[ASN][1000 genomes]
rs918129	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs918130	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:22299000-22300400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:22299200-22300200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:22299200-22300200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:22299200-22300400	Enhancers	Primary T cells from cord blood	blood
5	chr12:22299200-22300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:22299200-22300400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:22299200-22300400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:22299200-22300600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:22299200-22300800	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:22299200-22300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:22299400-22300200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:22299400-22300400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:22299400-22300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:22300000-22300400	Enhancers	Primary B cells from cord blood	blood
15	chr12:22300000-22300400	Enhancers	Esophagus	oesophagus

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