Variant report

Variant	rs7301993
Chromosome Location	chr12:22300307-22300308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1024851	0.84[ASN][1000 genomes]
rs10770895	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10841952	0.81[ASN][1000 genomes]
rs10841963	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11046315	0.80[ASN][1000 genomes]
rs11046324	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11046326	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11046327	0.85[ASN][1000 genomes]
rs4762732	0.82[ASN][1000 genomes]
rs6487289	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301927	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs759583	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7963066	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963799	0.83[ASN][1000 genomes]
rs7964713	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7976974	0.83[ASN][1000 genomes]
rs8181690	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs918129	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs918130	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22299000-22300400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:22299200-22300400	Enhancers	Primary T cells from cord blood	blood
3	chr12:22299200-22300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:22299200-22300400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:22299200-22300400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:22299200-22300600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:22299200-22300800	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:22299200-22300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:22299400-22300400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:22299400-22300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:22300000-22300400	Enhancers	Primary B cells from cord blood	blood
12	chr12:22300000-22300400	Enhancers	Esophagus	oesophagus
13	chr12:22300200-22300400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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