Variant report

Variant	rs2052530
Chromosome Location	chr5:147391366-147391367
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	chr5:147377762..147382319-chr5:147386529..147391595,4	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10036261	0.91[EUR][1000 genomes]
rs10074782	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[EUR][1000 genomes]
rs10491340	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10491341	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10491342	0.94[EUR][1000 genomes]
rs11948836	0.94[EUR][1000 genomes]
rs11950029	0.97[EUR][1000 genomes]
rs11951613	0.97[EUR][1000 genomes]
rs11951614	0.97[EUR][1000 genomes]
rs11952442	0.97[EUR][1000 genomes]
rs11954011	0.97[EUR][1000 genomes]
rs11955612	0.97[EUR][1000 genomes]
rs11956309	0.97[EUR][1000 genomes]
rs11957191	0.97[EUR][1000 genomes]
rs11957744	1.00[CEU][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes]
rs11958071	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11958866	0.97[EUR][1000 genomes]
rs11960620	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes]
rs12332673	0.94[EUR][1000 genomes]
rs1363718	0.97[EUR][1000 genomes]
rs1363719	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1363720	0.97[EUR][1000 genomes]
rs1422985	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1422986	0.80[EUR][1000 genomes]
rs17107575	1.00[CEU][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes]
rs17107650	0.97[EUR][1000 genomes]
rs17107665	0.97[EUR][1000 genomes]
rs17107672	0.97[EUR][1000 genomes]
rs17107673	0.97[EUR][1000 genomes]
rs17107676	0.97[EUR][1000 genomes]
rs17107680	0.97[EUR][1000 genomes]
rs17107705	0.80[EUR][1000 genomes]
rs17599437	0.80[AMR][1000 genomes]
rs17599451	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17599528	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17641707	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17718366	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17718385	0.97[EUR][1000 genomes]
rs17718403	0.97[EUR][1000 genomes]
rs17718420	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17718511	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17718535	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17718737	0.80[EUR][1000 genomes]
rs17774892	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17774947	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17775044	0.97[EUR][1000 genomes]
rs17775080	0.97[EUR][1000 genomes]
rs17775092	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17775104	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17860502	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1833769	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2032866	0.97[EUR][1000 genomes]
rs2112768	0.97[EUR][1000 genomes]
rs2112769	0.97[EUR][1000 genomes]
rs2287774	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2303069	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs3752677	0.80[EUR][1000 genomes]
rs3777138	0.80[EUR][1000 genomes]
rs4705050	0.97[EUR][1000 genomes]
rs4705051	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4705052	0.97[EUR][1000 genomes]
rs4705053	0.97[EUR][1000 genomes]
rs4705219	0.97[EUR][1000 genomes]
rs4705220	0.97[EUR][1000 genomes]
rs5014785	0.97[EUR][1000 genomes]
rs56714312	0.94[EUR][1000 genomes]
rs56945766	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs57608902	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58212044	0.97[EUR][1000 genomes]
rs58237290	0.97[EUR][1000 genomes]
rs58359628	0.80[EUR][1000 genomes]
rs58789871	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58923221	0.97[EUR][1000 genomes]
rs59133736	0.97[EUR][1000 genomes]
rs59140447	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs59900981	0.80[EUR][1000 genomes]
rs60978485	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61547850	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61612041	0.80[EUR][1000 genomes]
rs6872206	0.94[EUR][1000 genomes]
rs6873949	0.97[EUR][1000 genomes]
rs6881420	0.97[EUR][1000 genomes]
rs6891750	0.97[EUR][1000 genomes]
rs6892970	0.97[EUR][1000 genomes]
rs6896204	0.97[EUR][1000 genomes]
rs73269110	0.80[EUR][1000 genomes]
rs73269112	0.80[EUR][1000 genomes]
rs73269121	0.80[EUR][1000 genomes]
rs73271110	0.80[EUR][1000 genomes]
rs73794613	0.94[EUR][1000 genomes]
rs73794614	0.97[EUR][1000 genomes]
rs73794615	0.97[EUR][1000 genomes]
rs73794633	0.97[EUR][1000 genomes]
rs7703112	0.97[EUR][1000 genomes]
rs7705278	0.80[EUR][1000 genomes]
rs7706528	0.80[EUR][1000 genomes]
rs7714069	0.91[EUR][1000 genomes]
rs7714855	0.97[EUR][1000 genomes]
rs7719473	0.80[EUR][1000 genomes]
rs7721002	0.97[EUR][1000 genomes]
rs7727019	0.97[EUR][1000 genomes]
rs7733255	0.97[EUR][1000 genomes]
rs953310	0.97[EUR][1000 genomes]
rs984836	0.97[EUR][1000 genomes]
rs9885178	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147386400-147394000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:147386400-147400000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:147388400-147393400	Weak transcription	Esophagus	oesophagus
4	chr5:147388600-147401800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:147389200-147394400	Enhancers	Hela-S3	cervix
6	chr5:147390600-147394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:147390800-147392200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:147391000-147391400	Enhancers	NHLF	lung
9	chr5:147391000-147391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:147391000-147391600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:147391000-147391600	Enhancers	HUVEC	blood vessel
12	chr5:147391000-147391600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:147391000-147391800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:147391000-147391800	Enhancers	NH-A	brain
15	chr5:147391000-147392000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:147391000-147392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:147391000-147392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:147391000-147392800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:147391000-147394400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:147391000-147394400	Enhancers	HMEC	breast
21	chr5:147391000-147394400	Enhancers	NHEK	skin
22	chr5:147391200-147391600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:147391200-147391800	Enhancers	HUES64 Cell Line	embryonic stem cell

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