Variant report

Variant	rs10183561
Chromosome Location	chr2:183970400-183970401
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	chr2:183967945..183970518-chr2:183975860..183978004,2	K562	blood:
2	chr2:183970085..183972201-chr2:183987942..183989595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10165922	0.87[ASN][1000 genomes]
rs10170163	0.91[ASN][1000 genomes]
rs10174477	0.87[ASN][1000 genomes]
rs10200193	0.88[ASN][1000 genomes]
rs10201194	0.85[ASN][1000 genomes]
rs10460315	0.92[ASN][1000 genomes]
rs11692613	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12463411	0.92[ASN][1000 genomes]
rs12693331	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399265	0.92[ASN][1000 genomes]
rs13419900	0.87[ASN][1000 genomes]
rs16823717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16823721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16823967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16823970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16823971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16823974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16823976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16824001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1812647	0.81[ASN][1000 genomes]
rs1882440	0.87[ASN][1000 genomes]
rs2138482	0.92[ASN][1000 genomes]
rs2138484	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2138485	0.86[ASN][1000 genomes]
rs2176228	0.89[ASN][1000 genomes]
rs2247840	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2368335	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2368354	0.88[ASN][1000 genomes]
rs2675117	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2705714	0.83[ASN][1000 genomes]
rs2944346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2952345	1.00[JPT][hapmap]
rs3748879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4597478	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4666607	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4666885	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs4666887	0.89[ASN][1000 genomes]
rs55942934	0.94[ASN][1000 genomes]
rs56271556	0.94[ASN][1000 genomes]
rs59041013	0.94[ASN][1000 genomes]
rs61283216	0.94[ASN][1000 genomes]
rs61526412	0.94[ASN][1000 genomes]
rs6742203	1.00[ASN][1000 genomes]
rs73035651	0.92[ASN][1000 genomes]
rs73036601	0.94[ASN][1000 genomes]
rs867340	0.83[ASN][1000 genomes]
rs925805	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
3	chr2:183968200-183970600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:183969800-183970800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:183969800-183970800	Enhancers	Hela-S3	cervix
6	chr2:183969800-183971000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:183970000-183970600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:183970000-183970600	Enhancers	HMEC	breast
9	chr2:183970000-183970600	Enhancers	HSMM	muscle
10	chr2:183970000-183970800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:183970000-183970800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:183970000-183970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:183970000-183971000	Enhancers	A549	lung
14	chr2:183970200-183970600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:183970200-183970600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:183970200-183970600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:183970200-183970600	Enhancers	K562	blood
18	chr2:183970200-183970600	Enhancers	NHEK	skin
19	chr2:183970200-183970800	Enhancers	NHDF-Ad	bronchial

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