Variant report

Variant	rs2687935
Chromosome Location	chr13:50732286-50732287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50727152..50729552-chr13:50729761..50732291,3	MCF-7	breast:
2	chr13:50724073..50728700-chr13:50729258..50733237,4	K562	blood:
3	chr13:50563719..50566277-chr13:50730745..50733012,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1798974	0.82[ASN][1000 genomes]
rs1798975	0.83[ASN][1000 genomes]
rs2066550	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2476391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2687933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2687936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2760912	0.87[ASN][1000 genomes]
rs2760913	0.85[ASN][1000 genomes]
rs2812223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812224	0.87[ASN][1000 genomes]
rs34047395	0.82[EUR][1000 genomes]
rs706609	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706615	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706617	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790528	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790529	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790531	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790532	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790928	0.82[EUR][1000 genomes]
rs790931	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs790934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs790937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs790939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs790941	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50724400-50733400	Weak transcription	Psoas Muscle	Psoas
2	chr13:50726800-50734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:50726800-50735000	Weak transcription	NHLF	lung
4	chr13:50727000-50732400	Weak transcription	Primary B cells from cord blood	blood
5	chr13:50728000-50732600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:50728800-50733400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:50730800-50734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:50731200-50734400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:50731200-50735000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:50731200-50735200	Weak transcription	Osteobl	bone
11	chr13:50731400-50734600	Weak transcription	NHDF-Ad	bronchial
12	chr13:50731400-50736200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:50731400-50736600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:50731600-50733200	Weak transcription	HepG2	liver
15	chr13:50731600-50735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:50732000-50734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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