Variant report

Variant	rs7593377
Chromosome Location	chr2:210342767-210342768
allele	C/T
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	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10208979	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1031461	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10737939	0.96[ASN][1000 genomes]
rs10737940	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11686346	0.97[ASN][1000 genomes]
rs11687844	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052799	0.97[ASN][1000 genomes]
rs12053460	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2123700	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2198475	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2198476	0.97[ASN][1000 genomes]
rs2198477	0.97[ASN][1000 genomes]
rs2198478	0.96[ASN][1000 genomes]
rs2219085	0.96[ASN][1000 genomes]
rs2365657	1.00[ASN][1000 genomes]
rs2365658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs288046	0.91[ASN][1000 genomes]
rs288048	0.86[EUR][1000 genomes]
rs288049	0.86[EUR][1000 genomes]
rs288052	0.86[EUR][1000 genomes]
rs288062	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288064	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288065	0.95[ASN][1000 genomes]
rs288067	0.96[ASN][1000 genomes]
rs288068	0.96[ASN][1000 genomes]
rs2886435	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886436	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4672554	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4673481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673482	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435530	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6435531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6728378	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738205	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6740822	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7559831	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7561678	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7562585	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7568354	0.97[ASN][1000 genomes]
rs7574854	0.95[ASN][1000 genomes]
rs7580512	0.96[ASN][1000 genomes]
rs7586196	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7601095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852734	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9288409	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs997109	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210332800-210351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:210338000-210357400	Weak transcription	Aorta	Aorta
3	chr2:210339200-210359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:210339200-210360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:210339800-210344600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:210341600-210342800	Weak transcription	Fetal Heart	heart
7	chr2:210341600-210343600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:210341600-210345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:210341800-210344800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:210341800-210352600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:210342000-210343400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:210342000-210344800	Weak transcription	Brain Anterior Caudate	brain
13	chr2:210342000-210345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:210342000-210346200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:210342000-210352800	Weak transcription	Left Ventricle	heart
16	chr2:210342000-210353600	Weak transcription	Fetal Brain Male	brain
17	chr2:210342600-210343800	Enhancers	Fetal Brain Female	brain

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