Variant report

Variant	rs12665551
Chromosome Location	chr6:114335798-114335799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10456889	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11153457	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752089	0.81[AMR][1000 genomes]
rs11752866	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11752970	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11756975	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11966557	0.81[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12199104	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12205029	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12212081	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12665538	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13195526	0.82[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13201675	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2499615	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35080884	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35166510	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35275613	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35944188	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3897892	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4311539	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4320400	0.83[AFR][1000 genomes]
rs4371870	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4463289	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4604299	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6924680	0.91[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71566758	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7739597	0.82[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7742511	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7750794	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7750938	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7751120	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398371	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114329200-114342200	Weak transcription	Brain Substantia Nigra	brain
2	chr6:114329800-114338200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:114332600-114336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:114332600-114337000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:114332800-114338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:114332800-114338200	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:114333000-114338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:114333000-114339200	Weak transcription	Stomach Mucosa	stomach
9	chr6:114334400-114338200	Enhancers	HSMMtube	muscle
10	chr6:114334800-114336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:114334800-114336400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:114335000-114335800	Enhancers	Hela-S3	cervix
13	chr6:114335000-114336000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:114335000-114338000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:114335200-114336000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:114335200-114337400	Weak transcription	HSMM	muscle
17	chr6:114335200-114338000	Weak transcription	Placenta	Placenta
18	chr6:114335400-114335800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:114335600-114336000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:114335600-114336000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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