Variant report

Variant	rs2252692
Chromosome Location	chr10:50193052-50193053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1054553	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10735227	1.00[CHB][hapmap]
rs10745288	1.00[CHB][hapmap]
rs10745289	1.00[CHB][hapmap]
rs10776655	1.00[CHB][hapmap]
rs10776656	1.00[CHB][hapmap]
rs10857659	1.00[CHB][hapmap]
rs1317894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17011795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1913524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2137918	0.91[ASN][1000 genomes]
rs2137921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2244085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2244704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2244777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes]
rs2377632	1.00[CHB][hapmap]
rs2377649	1.00[CHB][hapmap]
rs2377694	1.00[CHB][hapmap]
rs2458674	1.00[CHB][hapmap]
rs2466749	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2466750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2663017	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2663018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2663024	1.00[CHB][hapmap]
rs2663027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2663058	1.00[CHB][hapmap]
rs2663061	1.00[CHB][hapmap]
rs2663062	1.00[CHB][hapmap]
rs2671690	1.00[ASN][1000 genomes]
rs2671698	1.00[CHB][hapmap]
rs2671699	1.00[CHB][hapmap]
rs2671700	1.00[CHB][hapmap]
rs2671701	1.00[CHB][hapmap]
rs2671714	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2671716	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2889691	1.00[CHB][hapmap]
rs2943248	1.00[CHB][hapmap]
rs3750866	1.00[CHB][hapmap]
rs3810953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3849151	1.00[CHB][hapmap]
rs3849152	1.00[CHB][hapmap]
rs41283297	1.00[EUR][1000 genomes]
rs4838663	1.00[JPT][hapmap]
rs57406661	0.83[ASN][1000 genomes]
rs58144692	1.00[ASN][1000 genomes]
rs59221892	1.00[EUR][1000 genomes]
rs59354363	1.00[EUR][1000 genomes]
rs59965106	1.00[EUR][1000 genomes]
rs60312033	0.83[ASN][1000 genomes]
rs7069844	1.00[JPT][hapmap]
rs7080003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7094724	1.00[CHB][hapmap]
rs73298906	0.83[ASN][1000 genomes]
rs73298923	0.96[ASN][1000 genomes]
rs7895063	1.00[ASN][1000 genomes]
rs7905794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7911009	1.00[CHB][hapmap]
rs7914464	1.00[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2252692	HBG1	trans	brain	seeQTL
rs2252692	HBG2	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50144600-50196200	Strong transcription	Primary B cells from cord blood	blood
2	chr10:50145000-50193200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:50145400-50193200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:50145800-50193400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:50148000-50193600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:50153600-50193600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr10:50189200-50193800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:50189600-50193200	Weak transcription	Esophagus	oesophagus
9	chr10:50189800-50195200	Weak transcription	Fetal Lung	lung
10	chr10:50189800-50201200	Weak transcription	Right Atrium	heart
11	chr10:50190000-50193600	Strong transcription	Spleen	Spleen
12	chr10:50190400-50204600	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:50191400-50193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:50192400-50197600	Weak transcription	Primary hematopoietic stem cells	blood

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