Variant report

Variant	rs11892193
Chromosome Location	chr2:37035214-37035215
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	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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10180537	0.83[ASN][1000 genomes]
rs10200515	0.84[ASN][1000 genomes]
rs10200548	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs11124546	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11124547	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[GIH][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124548	0.84[ASN][1000 genomes]
rs11901202	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11902881	0.86[CHB][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs12622304	0.87[ASN][1000 genomes]
rs13003338	0.83[ASN][1000 genomes]
rs13009450	0.83[ASN][1000 genomes]
rs13417089	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs13417363	0.86[ASN][1000 genomes]
rs17019851	0.86[CHB][hapmap];0.94[GIH][hapmap];0.83[ASN][1000 genomes]
rs17019854	0.86[CHB][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs2058683	0.93[CHB][hapmap];0.88[GIH][hapmap]
rs2072525	0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2072526	0.94[EUR][1000 genomes]
rs2072527	0.86[CHB][hapmap]
rs4670169	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs4670170	0.86[ASN][1000 genomes]
rs4670172	0.87[ASN][1000 genomes]
rs4670616	0.83[ASN][1000 genomes]
rs4670620	0.85[ASN][1000 genomes]
rs4670627	0.81[ASN][1000 genomes]
rs56740767	0.90[ASN][1000 genomes]
rs57032858	0.86[ASN][1000 genomes]
rs57817021	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60390214	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72867902	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7578447	1.00[CEU][hapmap]
rs7592382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs759435	0.87[ASN][1000 genomes]
rs7606098	0.86[CHB][hapmap]
rs879613	0.88[GIH][hapmap]
rs929640	0.86[CHB][hapmap];0.83[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:12 , 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	chr2:37034200-37035600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:37034400-37035800	Enhancers	Stomach Mucosa	stomach
7	chr2:37034600-37036200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:37034600-37042800	Weak transcription	Ovary	ovary
9	chr2:37034800-37035400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:37034800-37036200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:37034800-37036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:37035200-37035800	Enhancers	Colonic Mucosa	Colon

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