Variant report

Variant	rs7543618
Chromosome Location	chr1:169711326-169711327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169708800..169711627-chr1:169714928..169717201,2	MCF-7	breast:
2	chr1:169705648..169707388-chr1:169710933..169712519,2	MCF-7	breast:
3	chr1:169709712..169712944-chr1:169715789..169719606,5	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10157398	0.80[EUR][1000 genomes]
rs10800466	0.82[ASN][1000 genomes]
rs10800474	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10800476	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10919234	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12063022	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127655	0.90[ASN][1000 genomes]
rs12408179	0.93[ASN][1000 genomes]
rs2076059	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3917389	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3917419	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6427213	0.93[ASN][1000 genomes]
rs6427218	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6660124	0.81[ASN][1000 genomes]
rs7526645	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7531675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549412	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169708800-169713800	Weak transcription	Left Ventricle	heart
2	chr1:169709400-169711600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:169710400-169711400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:169710400-169711600	Enhancers	Fetal Kidney	kidney
5	chr1:169710400-169713800	Weak transcription	HUVEC	blood vessel
6	chr1:169710600-169711400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:169710600-169711400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:169710600-169711400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:169710600-169711600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:169710600-169711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:169710600-169713800	Weak transcription	Liver	Liver
12	chr1:169710800-169711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:169710800-169711400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:169710800-169711400	Weak transcription	Aorta	Aorta
15	chr1:169710800-169711400	Enhancers	HSMMtube	muscle
16	chr1:169710800-169711400	Flanking Active TSS	NH-A	brain
17	chr1:169710800-169711600	Enhancers	NHDF-Ad	bronchial
18	chr1:169711000-169711600	Bivalent Enhancer	Osteobl	bone
19	chr1:169711000-169714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:169711000-169714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:169711000-169714200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:169711000-169714600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:169711200-169711400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:169711200-169711400	Bivalent Enhancer	HSMM	muscle
25	chr1:169711200-169714600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:169711200-169714600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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