Variant report

Variant	rs2250074
Chromosome Location	chr4:22673525-22673526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1842097	0.81[EUR][1000 genomes]
rs2581966	0.87[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2581968	0.81[ASN][1000 genomes]
rs2581991	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2581992	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2618924	0.83[EUR][1000 genomes]
rs2618945	0.83[EUR][1000 genomes]
rs2618947	0.80[EUR][1000 genomes]
rs2618948	0.80[EUR][1000 genomes]
rs2618949	0.82[EUR][1000 genomes]
rs2618951	0.85[ASN][1000 genomes]
rs2618952	0.83[EUR][1000 genomes]
rs2618953	0.81[ASN][1000 genomes]
rs4697333	0.81[ASN][1000 genomes]

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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2250074	GPR125	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22663200-22674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:22669200-22673800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:22670200-22674200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:22670400-22678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:22670600-22681800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:22670800-22673800	Enhancers	Primary T cells from cord blood	blood
7	chr4:22670800-22673800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr4:22670800-22673800	Weak transcription	Fetal Thymus	thymus
9	chr4:22671600-22673800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:22671800-22673600	Weak transcription	Primary B cells from cord blood	blood
11	chr4:22672400-22675600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:22672600-22675200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:22672600-22675200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:22672800-22675400	Enhancers	Primary T helper cells PMA-I stimulated	--

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Input of quick search could be:

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

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