Variant report

Variant	rs11995209
Chromosome Location	chr8:111708039-111708040
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	chr8:111702766..111704836-chr8:111705809..111708776,2	MCF-7	breast:
2	chr8:111705966..111708208-chr8:111719733..111721854,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10103670	0.96[ASN][1000 genomes]
rs10104666	0.94[ASN][1000 genomes]
rs10107288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109131	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111772	0.80[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs10112109	0.99[ASN][1000 genomes]
rs10481058	0.96[ASN][1000 genomes]
rs10481059	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10481111	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955543	0.99[ASN][1000 genomes]
rs11776494	0.96[ASN][1000 genomes]
rs11782827	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1489356	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1494240	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16881031	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055108	0.99[ASN][1000 genomes]
rs2131847	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220823	0.99[ASN][1000 genomes]
rs2351320	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4469430	0.86[ASN][1000 genomes]
rs4541876	0.87[ASN][1000 genomes]
rs4573245	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4735161	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981969	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937278	0.99[ASN][1000 genomes]
rs937279	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1817780	chr8:111694657-111711197	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv1851720	chr8:111694657-111754075	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv891293	chr8:111704563-111822043	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111706200-111709000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:111706400-111708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:111706400-111708200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:111706600-111708200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:111706600-111709000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:111706600-111709400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:111706600-111709600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:111707000-111708200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:111707200-111709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:111708000-111708200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:111708000-111709600	Weak transcription	NH-A	brain

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