Variant report

Variant	rs2070852
Chromosome Location	chr11:46744925-46744926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46738555..46741511-chr11:46744742..46747329,2	K562	blood:
2	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180210	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1007738	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10734548	0.86[GIH][hapmap];0.92[MEX][hapmap]
rs10769205	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769211	0.89[GIH][hapmap];0.92[MEX][hapmap]
rs11039014	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs11606709	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12274785	0.96[EUR][1000 genomes]
rs12361673	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13448	0.88[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs1551744	0.89[GIH][hapmap];0.92[MEX][hapmap]
rs2282686	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306029	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2306032	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2306036	0.84[MEX][hapmap]
rs3136505	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4606447	0.82[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4752929	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752946	0.80[MEX][hapmap]
rs57804402	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485696	0.86[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs6485702	0.91[ASW][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs7101374	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs7107778	0.86[GIH][hapmap];0.92[MEX][hapmap]
rs7929294	0.86[GIH][hapmap];0.82[MEX][hapmap]
rs7932354	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7940441	0.81[GIH][hapmap];0.96[MEX][hapmap]
rs964551	0.86[GIH][hapmap];0.91[MEX][hapmap]
rs9704782	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2070852	DKFZp779M0652	cis	parietal	SCAN
rs2070852	ACP2	cis	lymphoblastoid	seeQTL
rs2070852	C11orf49	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:46741800-46746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:46742000-46745600	Weak transcription	A549	lung
9	chr11:46744000-46745400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:46744200-46745000	Transcr. at gene 5' and 3'	HepG2	liver
11	chr11:46744400-46752000	Genic enhancers	Liver	Liver
12	chr11:46744600-46745000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:46744800-46745400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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