Variant report

Variant	rs2970587
Chromosome Location	chr1:212075246-212075247
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: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10863930	0.84[EUR][1000 genomes]
rs10863932	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11119822	0.84[EUR][1000 genomes]
rs2002081	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2788119	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2788120	0.93[ASN][1000 genomes]
rs2788126	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2788127	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2788132	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2788143	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2788147	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2808378	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2808379	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2970582	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2998418	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951434	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6540712	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6685247	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7522107	0.81[ASN][1000 genomes]
rs7533928	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212074400-212078400	Enhancers	Fetal Intestine Small	intestine
2	chr1:212074400-212078800	Enhancers	Fetal Intestine Large	intestine
3	chr1:212074600-212076200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212074600-212077200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr1:212074800-212076200	Enhancers	Esophagus	oesophagus
6	chr1:212075000-212075600	Weak transcription	Colonic Mucosa	Colon
7	chr1:212075200-212075400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:212075200-212075800	Enhancers	Rectal Mucosa Donor 29	rectum

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