Variant report

Variant	rs2064422
Chromosome Location	chr1:57143676-57143677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57131079..57133360-chr1:57142832..57145132,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10889010	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11206890	0.81[EUR][1000 genomes]
rs11206899	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11206900	0.89[AMR][1000 genomes]
rs1124900	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12070903	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12072057	0.86[EUR][1000 genomes]
rs12121876	0.81[ASN][1000 genomes]
rs12738355	0.81[EUR][1000 genomes]
rs2064421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092594	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2092595	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2143754	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2245475	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2404994	0.80[AMR][1000 genomes]
rs2746338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2746345	0.82[EUR][1000 genomes]
rs2746348	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2746349	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2746353	0.80[EUR][1000 genomes]
rs2796491	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2796492	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796499	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796506	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2796507	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2796509	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2796511	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2796512	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2796514	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2796517	0.81[EUR][1000 genomes]
rs2796519	0.81[EUR][1000 genomes]
rs2796523	0.81[EUR][1000 genomes]
rs2796527	0.81[EUR][1000 genomes]
rs2796534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796541	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568857	0.82[ASN][1000 genomes]
rs6588643	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6671760	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6683935	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs715404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs715405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7366969	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7367181	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7367199	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7415042	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs857132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs857147	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs857148	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs857150	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs857155	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs857156	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs857159	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs963528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
3	chr1:57129800-57152200	Weak transcription	Psoas Muscle	Psoas
4	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:57141600-57144000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:57141600-57144000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:57141800-57144000	Enhancers	Hela-S3	cervix
9	chr1:57142200-57145000	Weak transcription	Left Ventricle	heart
10	chr1:57142600-57144000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:57142600-57145000	Weak transcription	HepG2	liver
12	chr1:57142600-57150400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:57143000-57153600	Weak transcription	NH-A	brain
14	chr1:57143400-57149400	Weak transcription	Fetal Heart	heart
15	chr1:57143600-57143800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:57143600-57153600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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