Variant report

Variant	rs2141392
Chromosome Location	chr1:186262587-186262588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10158395	0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10494585	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs10494588	0.84[YRI][hapmap]
rs13375943	0.83[YRI][hapmap]
rs16825179	0.84[YRI][hapmap];0.89[AMR][1000 genomes]
rs16825187	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs16825277	0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs16825282	0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs16825292	0.83[YRI][hapmap]
rs16825329	0.84[YRI][hapmap]
rs2178213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674322	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685708	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695920	0.84[YRI][hapmap]
rs6698164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547924	0.83[YRI][hapmap]

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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186259000-186262600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:186259000-186270400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:186259600-186273600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:186259800-186268400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:186260000-186262600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:186260000-186264800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:186260000-186269400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:186260600-186264600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:186260600-186264600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186260800-186269400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:186261200-186265000	Weak transcription	Hela-S3	cervix
12	chr1:186262400-186268800	Weak transcription	Primary T cells from cord blood	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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