Variant report

Variant	rs2847494
Chromosome Location	chr11:120133012-120133013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120118232..120120974-chr11:120130647..120133448,2	MCF-7	breast:
2	chr11:120106676..120109275-chr11:120132270..120135213,2	MCF-7	breast:
3	chr11:120130583..120133216-chr11:120136162..120137758,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000259541	Chromatin interaction

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

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

rs_ID	r²[population]
rs10750169	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892551	1.00[CHD][hapmap]
rs10892559	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11217817	1.00[CHB][hapmap]
rs11603274	1.00[ASN][1000 genomes]
rs11603307	1.00[ASN][1000 genomes]
rs11603757	1.00[ASN][1000 genomes]
rs11607289	1.00[ASN][1000 genomes]
rs12364701	1.00[CHB][hapmap]
rs1941406	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1941411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015914	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155809	1.00[CHB][hapmap]
rs2715881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2715882	0.81[EUR][1000 genomes]
rs2715883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715888	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847495	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847502	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938794	1.00[ASN][1000 genomes]
rs6589804	1.00[ASN][1000 genomes]
rs7119027	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73008710	1.00[ASN][1000 genomes]
rs7484249	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753309	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs882856	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120131600-120142200	Weak transcription	Esophagus	oesophagus
2	chr11:120131800-120136600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120132200-120136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120132400-120136600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:120132600-120134000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:120132600-120134600	Weak transcription	Right Atrium	heart
7	chr11:120132600-120136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:120132600-120136400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:120132600-120136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:120132800-120136200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:120132800-120136400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:120132800-120136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:120132800-120136400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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