Variant report

Variant	rs34101687
Chromosome Location	chr16:71995989-71995990
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:
2	chr16:71928111..71930249-chr16:71995489..71998686,3	MCF-7	breast:
3	chr16:71916749..71918531-chr16:71994813..71997019,2	MCF-7	breast:
4	chr16:71879940..71882947-chr16:71994188..71997144,3	MCF-7	breast:
5	chr16:71644466..71645406-chr16:71995435..71996080,2	K562	blood:
6	chr16:71981622..71984385-chr16:71994653..71997032,2	MCF-7	breast:
7	chr16:71917299..71918017-chr16:71995178..71995991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10500567	0.86[ASN][1000 genomes]
rs10852507	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075906	0.86[ASN][1000 genomes]
rs11639843	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640135	0.82[ASN][1000 genomes]
rs11644740	0.85[ASN][1000 genomes]
rs11865456	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149307	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149325	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149917	0.86[ASN][1000 genomes]
rs12445564	1.00[ASN][1000 genomes]
rs12445641	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12448086	0.86[ASN][1000 genomes]
rs12921279	1.00[ASN][1000 genomes]
rs12921459	0.86[ASN][1000 genomes]
rs12927691	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934512	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13330178	0.82[ASN][1000 genomes]
rs17357420	0.83[ASN][1000 genomes]
rs17358402	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029919	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34664834	0.89[ASN][1000 genomes]
rs35028754	0.82[ASN][1000 genomes]
rs35069141	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35209006	0.82[ASN][1000 genomes]
rs35377660	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35404791	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35595148	0.82[ASN][1000 genomes]
rs36182990	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751820	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4528577	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71384781	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71384782	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71386939	0.89[ASN][1000 genomes]
rs71386940	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71386942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188591	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191848	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195988	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197486	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7198834	0.82[ASN][1000 genomes]
rs73586164	0.86[ASN][1000 genomes]
rs8049508	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050058	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052358	0.82[ASN][1000 genomes]
rs9940234	0.87[EUR][1000 genomes];1.00[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	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv572950	chr16:71988728-72020323	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71969600-71999200	Weak transcription	Liver	Liver
2	chr16:71994200-71999000	Weak transcription	Stomach Mucosa	stomach
3	chr16:71995000-71996000	Enhancers	HepG2	liver
4	chr16:71995200-71996000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:71995600-71996000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:71995600-71996000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:71995600-71996000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:71995600-71996000	Enhancers	HSMM	muscle
9	chr16:71995600-71996000	Enhancers	Osteobl	bone
10	chr16:71995600-71996200	Enhancers	NHDF-Ad	bronchial
11	chr16:71995600-71996600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:71995800-71996000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:71995800-71997000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:71995800-72001000	Weak transcription	Brain Hippocampus Middle	brain

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