Variant report

Variant	rs4670171
Chromosome Location	chr2:37035013-37035014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37026211..37031295-chr2:37031745..37037130,6	MCF-7	breast:
2	chr2:37034700..37036255-chr2:37423104..37425586,2	K562	blood:

Variant related genes	Relation type
ENSG00000218739	Chromatin interaction
ENSG00000138068	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014584	0.82[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[ASN][1000 genomes]
rs10177789	1.00[ASN][1000 genomes]
rs10177905	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10179017	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180537	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10198181	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10200515	0.81[AMR][1000 genomes]
rs10200548	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs10209055	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11124545	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11692052	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464180	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12618630	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13382481	1.00[ASN][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	1.00[ASN][1000 genomes]
rs13398292	1.00[ASN][1000 genomes]
rs13398577	1.00[ASN][1000 genomes]
rs13398883	1.00[ASN][1000 genomes]
rs13411242	1.00[ASN][1000 genomes]
rs13419229	1.00[ASN][1000 genomes]
rs13423835	1.00[ASN][1000 genomes]
rs13426552	1.00[ASN][1000 genomes]
rs13429524	1.00[ASN][1000 genomes]
rs1558701	0.90[CEU][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2247010	1.00[CHD][hapmap]
rs2372713	0.93[ASW][hapmap];0.90[CEU][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540923	1.00[CHD][hapmap]
rs2691111	1.00[CHD][hapmap]
rs28692629	1.00[ASN][1000 genomes]
rs34040386	0.90[AMR][1000 genomes]
rs4670610	1.00[ASN][1000 genomes]
rs4670618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670619	0.80[EUR][1000 genomes]
rs56808546	1.00[ASN][1000 genomes]
rs6544040	0.81[AMR][1000 genomes]
rs6544041	0.81[AMR][1000 genomes]
rs6716891	1.00[CHD][hapmap]
rs6721362	0.82[CEU][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7572592	1.00[ASN][1000 genomes]
rs7606098	0.86[CEU][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap]
rs763724	0.82[CEU][hapmap]
rs9309000	1.00[ASN][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr2:37027400-37044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:37027600-37036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:37031600-37035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:37033800-37035400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37034200-37035200	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:37034200-37035600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:37034400-37035800	Enhancers	Stomach Mucosa	stomach
8	chr2:37034600-37035200	Weak transcription	Colonic Mucosa	Colon
9	chr2:37034600-37036200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:37034600-37042800	Weak transcription	Ovary	ovary
11	chr2:37034800-37035400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:37034800-37036200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:37034800-37036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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