Variant report

Variant	rs954519
Chromosome Location	chr8:67136438-67136439
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67133300..67135377-chr8:67135506..67138428,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11775809	0.94[EUR][1000 genomes]
rs11784558	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2446435	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2446436	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446437	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446438	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2446440	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2446441	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2446442	0.94[EUR][1000 genomes]
rs2446444	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2446445	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469254	0.91[EUR][1000 genomes]
rs2469256	0.87[EUR][1000 genomes]
rs2469257	0.87[EUR][1000 genomes]
rs2469258	0.87[EUR][1000 genomes]
rs2469259	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469260	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469262	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469263	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469267	0.87[EUR][1000 genomes]
rs2469269	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2469270	0.87[EUR][1000 genomes]
rs2469271	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469273	0.86[EUR][1000 genomes]
rs2469274	0.87[EUR][1000 genomes]
rs2469275	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469276	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469277	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2469283	0.87[EUR][1000 genomes]
rs2469284	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469285	0.87[EUR][1000 genomes]
rs2469286	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469287	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469291	0.94[EUR][1000 genomes]
rs2469292	0.94[EUR][1000 genomes]
rs2469293	0.93[EUR][1000 genomes]
rs2469294	0.86[EUR][1000 genomes]
rs2469295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469296	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469297	0.96[EUR][1000 genomes]
rs2469298	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2469299	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2469301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469302	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2469303	0.86[EUR][1000 genomes]
rs3110302	0.95[EUR][1000 genomes]
rs56026833	0.94[EUR][1000 genomes]
rs56054054	0.94[EUR][1000 genomes]
rs62511880	0.87[EUR][1000 genomes]
rs7816372	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs936430	0.87[EUR][1000 genomes]
rs954520	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67132200-67137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:67133400-67140000	Weak transcription	Lung	lung
3	chr8:67135200-67137600	Enhancers	Placenta	Placenta
4	chr8:67135400-67136600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:67135800-67136600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:67135800-67136600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:67135800-67136600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:67136000-67136600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:67136000-67136600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:67136200-67140600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:67136400-67136600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:67136400-67140400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:67136400-67140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:67136400-67140600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:67136400-67140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67136400-67140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:67136400-67140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:67136400-67140600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:67136400-67140600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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