Variant report

Variant	rs2002081
Chromosome Location	chr1:212074836-212074837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212074801..212076576-chr1:212084701..212087247,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863932	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11119821	0.82[ASN][1000 genomes]
rs2788119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2788120	0.96[ASN][1000 genomes]
rs2788126	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788127	0.84[ASN][1000 genomes]
rs2788132	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788143	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2788147	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808378	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808379	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2970582	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970587	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2998418	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951431	0.83[EUR][1000 genomes]
rs4951434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6540712	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6685247	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688596	0.83[EUR][1000 genomes]
rs7522107	0.84[ASN][1000 genomes]
rs7533928	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212069200-212075200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212074400-212078400	Enhancers	Fetal Intestine Small	intestine
3	chr1:212074400-212078800	Enhancers	Fetal Intestine Large	intestine
4	chr1:212074600-212076200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:212074600-212077200	ZNF genes & repeats	GM12878-XiMat	blood
6	chr1:212074800-212075000	Enhancers	Colonic Mucosa	Colon
7	chr1:212074800-212076200	Enhancers	Esophagus	oesophagus

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