Variant report

Variant	rs2663044
Chromosome Location	chr10:49979855-49979856
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10776647	0.89[JPT][hapmap]
rs10776648	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10857655	0.89[JPT][hapmap]
rs11101511	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs11101529	0.89[JPT][hapmap]
rs11101530	0.89[JPT][hapmap]
rs11101531	0.88[JPT][hapmap]
rs1871604	0.83[YRI][hapmap]
rs1904596	0.89[JPT][hapmap]
rs2002588	0.89[JPT][hapmap]
rs2127590	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2170132	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2448539	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs2448540	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2448545	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs2457214	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2620888	0.89[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2620889	0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2620891	0.89[JPT][hapmap]
rs2620896	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2620898	0.89[JPT][hapmap]
rs2620903	0.80[ASN][1000 genomes]
rs2620904	0.89[JPT][hapmap]
rs2663035	0.80[ASN][1000 genomes]
rs2663053	0.95[ASN][1000 genomes]
rs2928393	0.91[ASN][1000 genomes]
rs2928401	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2940704	0.80[ASN][1000 genomes]
rs2943244	0.89[JPT][hapmap]
rs3747872	0.89[JPT][hapmap]
rs3747874	0.89[JPT][hapmap]
rs3747875	0.89[JPT][hapmap]
rs3860188	0.89[JPT][hapmap]
rs4838648	0.89[ASN][1000 genomes]
rs6537576	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537580	0.84[CHB][hapmap]
rs7079766	0.89[JPT][hapmap]
rs726786	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7900138	0.89[JPT][hapmap]
rs7913005	0.89[JPT][hapmap]
rs877819	0.89[JPT][hapmap]

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	nsv895374	chr10:49969556-49990081	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2663044	PRKG1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49962400-49980600	Strong transcription	Primary B cells from cord blood	blood
2	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr10:49969400-49989800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:49971400-49982600	Weak transcription	Spleen	Spleen
6	chr10:49975200-49982400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49976400-49981200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:49976800-49980000	Strong transcription	GM12878-XiMat	blood
9	chr10:49977000-49990400	Weak transcription	Fetal Brain Male	brain
10	chr10:49977400-49981200	Weak transcription	Fetal Thymus	thymus
11	chr10:49977800-49980200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:49979000-49980000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:49979200-49984600	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:49979400-49980200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr10:49979400-49989200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr10:49979600-49980200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:49979600-49990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:49979800-49991000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:49979800-49992400	Strong transcription	Monocytes-CD14+_RO01746	blood

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