Variant report

Variant	rs2847502
Chromosome Location	chr11:120118498-120118499
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	chr11:120106019..120110812-chr11:120113040..120119064,10	MCF-7	breast:
3	chr11:120117231..120118819-chr11:120169403..120172341,2	K562	blood:
4	chr11:120116039..120118601-chr11:120127527..120129964,2	MCF-7	breast:
5	chr11:120117670..120119625-chr11:120143644..120146551,2	K562	blood:
6	chr11:120118182..120122394-chr11:120138694..120140959,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10750169	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892551	1.00[CHD][hapmap]
rs10892559	1.00[CHD][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]
rs1941406	1.00[ASN][1000 genomes]
rs1941411	0.95[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015914	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096882	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155808	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2715881	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2715883	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715888	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847494	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]
rs2847495	0.82[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[ASN][1000 genomes]
rs4938794	1.00[ASN][1000 genomes]
rs6589804	1.00[ASN][1000 genomes]
rs73008710	1.00[ASN][1000 genomes]
rs7484249	0.95[CEU][hapmap];1.00[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120112600-120119600	Weak transcription	Esophagus	oesophagus
2	chr11:120114400-120119000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:120115200-120119000	Enhancers	GM12878-XiMat	blood
4	chr11:120115600-120119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:120115800-120118800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:120115800-120119000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:120116000-120118600	Weak transcription	HMEC	breast
8	chr11:120116000-120124600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:120116400-120119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:120116400-120119400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:120117000-120120000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:120117000-120125400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:120117400-120118600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:120117400-120119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:120117400-120119200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:120117600-120118600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:120117600-120118600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:120117600-120119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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