Variant report

Variant	rs2161986
Chromosome Location	chr1:184229255-184229256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184223949..184226595-chr1:184227169..184229725,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1024298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1024300	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494577	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911529	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911541	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911556	0.83[EUR][1000 genomes]
rs10911557	0.83[EUR][1000 genomes]
rs12079075	0.90[EUR][1000 genomes]
rs12079081	0.92[EUR][1000 genomes]
rs12096575	0.83[EUR][1000 genomes]
rs12117439	0.94[EUR][1000 genomes]
rs12117567	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12119073	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12132917	0.86[EUR][1000 genomes]
rs12401350	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12401363	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402670	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403673	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408100	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12726078	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12727591	0.83[EUR][1000 genomes]
rs12728309	0.90[EUR][1000 genomes]
rs12742417	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12746749	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756256	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1318406	0.94[EUR][1000 genomes]
rs1409808	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1409810	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1854085	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1930291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161989	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2378840	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34306471	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35861687	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36020636	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4263963	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618934	0.83[EUR][1000 genomes]
rs4651196	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57757593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670049	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690614	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7529843	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs890065	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9645302	0.83[EUR][1000 genomes]
rs984419	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184212200-184229400	Weak transcription	NHLF	lung
2	chr1:184224400-184233000	Weak transcription	Fetal Heart	heart
3	chr1:184225800-184233200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:184226800-184230000	Enhancers	HUVEC	blood vessel
5	chr1:184227800-184239800	Weak transcription	Psoas Muscle	Psoas
6	chr1:184228600-184229800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:184228800-184229600	Enhancers	NH-A	brain
8	chr1:184229000-184229400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:184229000-184229600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:184229000-184229600	Enhancers	HSMM	muscle
11	chr1:184229200-184229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:184229200-184229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:184229200-184229800	Enhancers	NHDF-Ad	bronchial
14	chr1:184229200-184229800	Enhancers	Osteobl	bone
15	chr1:184229200-184230400	Enhancers	Muscle Satellite Cultured Cells	--

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