Variant report

Variant	rs67254126
Chromosome Location	chr2:231417209-231417210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10933339	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1627497	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1649911	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1678154	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678155	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678192	0.84[AMR][1000 genomes]
rs1678193	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1678194	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875949	chr2:231407663-231434272	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv875950	chr2:231413681-231434272	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv528220	chr2:231414688-231433237	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv460120	chr2:231414688-231433237	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv584674	chr2:231414688-231433237	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
9	nsv875951	chr2:231414688-231434272	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	nsv875952	chr2:231415189-231434272	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
11	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 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	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
2	chr2:231410200-231428800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:231417000-231418000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:231417000-231418000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr2:231417200-231417400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:231417200-231417400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:231417200-231417600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:231417200-231417600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:231417200-231417800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:231417200-231417800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:231417200-231418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:231417200-231418200	Enhancers	Primary T helper naive 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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