Variant report

Variant	rs2161989
Chromosome Location	chr1:184187700-184187701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184127775..184130577-chr1:184186407..184188263,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1024298	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1024299	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1024300	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10494577	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911521	0.80[ASN][1000 genomes]
rs10911523	0.84[EUR][1000 genomes]
rs10911528	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10911529	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911541	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11802235	0.81[ASN][1000 genomes]
rs12117567	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12119073	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12119930	0.87[CEU][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs12119989	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs12129040	0.82[EUR][1000 genomes]
rs12132917	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136090	0.85[EUR][1000 genomes]
rs12142293	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs12401350	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12401363	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12401732	0.80[ASN][1000 genomes]
rs12402004	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12402028	0.80[ASN][1000 genomes]
rs12402670	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403264	0.80[ASN][1000 genomes]
rs12403673	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12408100	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12726078	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742417	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12746749	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756256	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1327142	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs1409808	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409810	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1854085	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1930291	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161986	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194700	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2378818	0.80[ASN][1000 genomes]
rs2378820	0.80[ASN][1000 genomes]
rs2378840	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34301155	0.85[EUR][1000 genomes]
rs34306471	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34518379	0.80[ASN][1000 genomes]
rs35861687	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36020636	0.83[EUR][1000 genomes]
rs36086128	0.80[ASN][1000 genomes]
rs4263963	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4650658	0.81[ASN][1000 genomes]
rs4651179	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs4651196	0.83[EUR][1000 genomes]
rs57757593	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58294748	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6660720	0.80[ASN][1000 genomes]
rs6661144	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6670049	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690614	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694958	0.80[ASN][1000 genomes]
rs6697294	0.83[EUR][1000 genomes]
rs7518664	0.85[EUR][1000 genomes]
rs7529843	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs890065	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs929942	0.80[ASN][1000 genomes]
rs9650990	0.87[CEU][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs984419	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs986595	0.80[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184162600-184191400	Weak transcription	Right Ventricle	heart
2	chr1:184179400-184191800	Weak transcription	Fetal Kidney	kidney
3	chr1:184179600-184191600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:184180200-184194400	Weak transcription	Fetal Brain Male	brain
5	chr1:184182400-184189400	Weak transcription	Spleen	Spleen
6	chr1:184182400-184193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:184182400-184195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:184182600-184192000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:184183400-184191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:184186800-184188800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:184187400-184187800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:184187400-184188200	Enhancers	Brain Anterior Caudate	brain
13	chr1:184187400-184188400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:184187400-184188400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:184187600-184187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:184187600-184188000	Enhancers	Brain Germinal Matrix	brain
17	chr1:184187600-184188200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:184187600-184188200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:184187600-184188200	Enhancers	Brain Substantia Nigra	brain
20	chr1:184187600-184188200	Enhancers	Fetal Brain Female	brain
21	chr1:184187600-184188400	Enhancers	Brain Hippocampus Middle	brain
22	chr1:184187600-184188600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:184187600-184189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:184187600-184189000	Enhancers	NHDF-Ad	bronchial

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