Variant report

Variant	rs72750532
Chromosome Location	chr1:196150580-196150581
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	chr1:196149563..196151314-chr1:196152505..196155179,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55864059	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56347379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56372342	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56657441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72746199	0.92[AMR][1000 genomes]
rs72748417	0.92[AMR][1000 genomes]
rs72748422	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72748424	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72748426	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748428	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748430	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72748490	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72750526	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72750527	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72750529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72750535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872948	chr1:195872295-196236425	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv470769	chr1:195901676-196187665	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534209	chr1:196011881-196208885	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv872951	chr1:196027872-196166278	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1836908	chr1:196142986-196177193	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196149600-196151000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:196149600-196151400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:196149600-196151400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:196149600-196151400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:196149600-196151400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:196149600-196151400	Enhancers	Esophagus	oesophagus
7	chr1:196149600-196151400	Enhancers	Hela-S3	cervix
8	chr1:196149600-196151400	Enhancers	NH-A	brain
9	chr1:196149600-196151400	Enhancers	NHDF-Ad	bronchial
10	chr1:196149600-196151400	Enhancers	NHEK	skin
11	chr1:196149600-196151600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:196149600-196151600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:196149800-196150600	Enhancers	Osteobl	bone
14	chr1:196149800-196151000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:196149800-196151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:196149800-196151200	Enhancers	NHLF	lung
17	chr1:196149800-196151400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:196149800-196151400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:196149800-196151400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:196149800-196151400	Enhancers	HMEC	breast
21	chr1:196149800-196151600	Enhancers	HUVEC	blood vessel
22	chr1:196150000-196150600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:196150000-196150600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:196150000-196150800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:196150000-196150800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:196150000-196151000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:196150000-196151000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:196150000-196151400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:196150000-196151400	Enhancers	HSMM	muscle
30	chr1:196150400-196150600	Enhancers	A549	lung
31	chr1:196150400-196150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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