Variant report

Variant	rs6600993
Chromosome Location	chr5:178335959-178335960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10035887	0.99[ASN][1000 genomes]
rs10043579	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10044051	0.98[ASN][1000 genomes]
rs10055777	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10055826	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10071186	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10434800	0.85[ASN][1000 genomes]
rs10516151	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11249601	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11249603	0.98[ASN][1000 genomes]
rs11745403	0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11746382	0.97[ASN][1000 genomes]
rs12653764	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13154558	0.99[ASN][1000 genomes]
rs13362387	0.95[JPT][hapmap]
rs1496949	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1496950	0.99[ASN][1000 genomes]
rs1995079	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2004503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4444956	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4700927	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6600994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866021	0.99[ASN][1000 genomes]
rs6872605	0.99[ASN][1000 genomes]
rs6872794	0.99[ASN][1000 genomes]
rs6873993	0.99[ASN][1000 genomes]
rs6880072	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6897783	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898923	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6899251	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7701607	0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7702879	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7718717	0.85[ASN][1000 genomes]
rs953740	0.99[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	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3470830	chr5:178334452-178339256	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3470831	chr5:178334452-178339256	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178323800-178336200	Weak transcription	Right Ventricle	heart
2	chr5:178323800-178336400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:178333400-178336000	Weak transcription	Brain Angular Gyrus	brain
4	chr5:178333400-178336200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:178333400-178336200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:178333400-178336200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:178334800-178336000	Weak transcription	Ovary	ovary
8	chr5:178335600-178340600	ZNF genes & repeats	Brain Substantia Nigra	brain
9	chr5:178335600-178349000	ZNF genes & repeats	Liver	Liver
10	chr5:178335800-178337800	ZNF genes & repeats	Gastric	stomach
11	chr5:178335800-178337800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
12	chr5:178335800-178342200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr5:178335800-178367000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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