Variant report

Variant	rs17019854
Chromosome Location	chr2:37033258-37033259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37029593..37034563-chr2:37035958..37037760,4	K562	blood:
2	chr2:37026211..37031295-chr2:37031745..37037130,6	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10174403	1.00[CEU][hapmap]
rs10180537	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs1019311	1.00[TSI][hapmap]
rs10200548	0.86[CHB][hapmap]
rs10209211	0.81[ASN][1000 genomes]
rs10490661	1.00[TSI][hapmap]
rs10490662	1.00[TSI][hapmap]
rs11124546	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11124547	0.88[GIH][hapmap]
rs11891319	1.00[TSI][hapmap]
rs11892193	0.86[CHB][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs11901202	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11902881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11904545	1.00[TSI][hapmap]
rs12616788	1.00[CEU][hapmap]
rs12618670	0.87[ASN][1000 genomes]
rs12622304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13417089	0.86[CHB][hapmap]
rs13418106	1.00[CEU][hapmap]
rs13418202	1.00[CEU][hapmap]
rs1558701	0.92[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs17019813	1.00[CEU][hapmap]
rs17019851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861390	1.00[CEU][hapmap]
rs2041809	0.92[CHB][hapmap];0.93[CHD][hapmap]
rs2058683	0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap]
rs2072526	1.00[CEU][hapmap]
rs2072527	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs2110883	1.00[TSI][hapmap]
rs2276668	0.81[ASN][1000 genomes]
rs2276670	1.00[CEU][hapmap]
rs2540934	1.00[TSI][hapmap]
rs2691117	1.00[TSI][hapmap]
rs2717515	1.00[TSI][hapmap]
rs4670169	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs4670606	1.00[TSI][hapmap]
rs4670615	0.84[ASN][1000 genomes]
rs4670616	0.99[ASN][1000 genomes]
rs57032858	0.89[ASN][1000 genomes]
rs57817021	0.81[ASN][1000 genomes]
rs6544039	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs6544040	0.86[ASN][1000 genomes]
rs6544041	0.86[ASN][1000 genomes]
rs6544042	0.83[ASN][1000 genomes]
rs6706964	1.00[TSI][hapmap]
rs6708710	1.00[TSI][hapmap]
rs6710234	1.00[TSI][hapmap]
rs72867896	0.94[ASN][1000 genomes]
rs7424163	1.00[TSI][hapmap]
rs7592382	0.83[CHB][hapmap]
rs7606098	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs763724	0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs879613	0.81[CHD][hapmap];0.91[GIH][hapmap]
rs929640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs974964	1.00[TSI][hapmap]

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	chr2:37024400-37033800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:37027400-37044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:37027600-37036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37029400-37034200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:37031600-37035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37032400-37033800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:37032800-37033400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:37032800-37033400	Enhancers	Stomach Mucosa	stomach
9	chr2:37033000-37033400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:37033000-37034200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:37033000-37034400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:37033000-37034600	Strong transcription	Ovary	ovary
13	chr2:37033200-37033400	Flanking Active TSS	K562	blood

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