Variant report

Variant	rs1432530
Chromosome Location	chr2:182997420-182997421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182607039..182609775-chr2:182996269..182999208,3	MCF-7	breast:
2	chr2:182437539..182438523-chr2:182997112..182997742,2	MCF-7	breast:
3	chr2:182754700..182758987-chr2:182995578..182999206,6	MCF-7	breast:
4	chr2:182940136..182945901-chr2:182990915..182998605,17	MCF-7	breast:
5	chr2:182607320..182608150-chr2:182997133..182997648,2	MCF-7	breast:
6	chr2:182942463..182945440-chr2:182995161..182998579,4	MCF-7	breast:
7	chr2:182760625..182763204-chr2:182996847..182998737,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1196057	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1196058	0.86[EUR][1000 genomes]
rs1196065	0.84[EUR][1000 genomes]
rs1196066	0.84[EUR][1000 genomes]
rs1196072	0.85[EUR][1000 genomes]
rs1196074	0.83[EUR][1000 genomes]
rs1210652	0.84[EUR][1000 genomes]
rs12617563	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1347081	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1368217	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1368218	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1368220	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1368221	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1432522	0.80[EUR][1000 genomes]
rs1432528	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1432529	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1432531	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1897472	0.86[EUR][1000 genomes]
rs1946602	0.86[EUR][1000 genomes]
rs1999	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2217616	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4666577	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6711862	0.89[EUR][1000 genomes]
rs6714277	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6734868	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6749969	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7580614	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7580716	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7592780	0.89[AFR][1000 genomes];0.97[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	nsv875477	chr2:182938377-183086478	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875478	chr2:182960289-182998122	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182995600-182997800	Weak transcription	HMEC	breast
2	chr2:182996400-182999800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:182996600-182999000	Enhancers	NH-A	brain
4	chr2:182996600-182999000	Enhancers	NHLF	lung
5	chr2:182996600-182999600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:182996600-182999600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:182996600-183000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:182996800-182999000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:182996800-182999000	Enhancers	Hela-S3	cervix
10	chr2:182996800-183009800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:182997000-182998200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:182997000-182998600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:182997000-182999200	Enhancers	Osteobl	bone
14	chr2:182997200-182998200	Enhancers	HUVEC	blood vessel
15	chr2:182997200-182998200	Weak transcription	NHDF-Ad	bronchial
16	chr2:182997200-182998600	Weak transcription	Aorta	Aorta
17	chr2:182997200-182998600	Weak transcription	Gastric	stomach
18	chr2:182997200-183002600	Weak transcription	Fetal Kidney	kidney

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