Variant report

Variant	rs2219085
Chromosome Location	chr2:210361893-210361894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10173260	0.97[ASN][1000 genomes]
rs10208979	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1031461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs10737939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10737940	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]
rs11686346	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687844	0.98[ASN][1000 genomes]
rs12052799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12053460	0.95[ASN][1000 genomes]
rs12614974	0.88[CEU][hapmap]
rs12623404	0.88[CEU][hapmap]
rs2123700	1.00[ASN][1000 genomes]
rs2198475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2198476	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2198477	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2198478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2365657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2365658	0.96[ASN][1000 genomes]
rs2710477	0.87[CEU][hapmap]
rs288046	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs288062	0.98[ASN][1000 genomes]
rs288064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs288065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs288067	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886435	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2886436	0.95[ASN][1000 genomes]
rs4672554	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4673481	0.95[ASN][1000 genomes]
rs4673482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6435530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[ASN][1000 genomes]
rs6435531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6728378	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6738205	0.95[ASN][1000 genomes]
rs6740822	0.99[ASN][1000 genomes]
rs7559831	0.95[ASN][1000 genomes]
rs7561678	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7562585	0.95[ASN][1000 genomes]
rs7568354	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7574854	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7580512	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7586196	0.98[ASN][1000 genomes]
rs7593377	0.96[ASN][1000 genomes]
rs7601095	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs852734	0.96[ASN][1000 genomes]
rs9288409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs997109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210358600-210362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:210359600-210362200	Enhancers	Hela-S3	cervix
3	chr2:210360000-210363200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:210360200-210362000	Enhancers	Fetal Heart	heart
5	chr2:210360200-210363200	Weak transcription	Right Ventricle	heart
6	chr2:210360200-210366000	Weak transcription	Psoas Muscle	Psoas
7	chr2:210360200-210366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:210360400-210363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:210360400-210363400	Weak transcription	Pancreas	Pancrea
10	chr2:210361000-210363000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:210361000-210363000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:210361200-210362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:210361200-210363200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:210361400-210362000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:210361400-210362200	Enhancers	Left Ventricle	heart
16	chr2:210361600-210362000	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr2:210361600-210362600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:210361600-210362600	Enhancers	HUVEC	blood vessel
19	chr2:210361600-210362800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:210361600-210363000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:210361600-210363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:210361800-210362400	Strong transcription	Fetal Brain Female	brain
23	chr2:210361800-210363000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:210361800-210363400	Weak transcription	A549	lung
25	chr2:210361800-210376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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