Variant report

Variant	rs12332927
Chromosome Location	chr6:27955115-27955116
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	chr6:27776579..27778679-chr6:27953165..27955458,2	K562	blood:
2	chr6:27951630..27953628-chr6:27955010..27957924,2	K562	blood:

Variant related genes	Relation type
ENSG00000203813	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10046419	0.82[CHB][hapmap]
rs12178430	0.81[AFR][1000 genomes]
rs12333142	0.88[ASN][1000 genomes]
rs1497525	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1497526	0.84[ASW][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1564442	0.82[CHB][hapmap]
rs16893533	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs16893540	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16893549	0.88[ASN][1000 genomes]
rs16893731	0.82[CHB][hapmap]
rs17763319	0.82[CHB][hapmap]
rs17765402	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17767294	0.82[CHB][hapmap]
rs1873213	0.82[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs2277103	0.82[CHB][hapmap]
rs276370	0.83[LWK][hapmap];0.81[YRI][hapmap]
rs6456803	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs6900413	1.00[CHB][hapmap]
rs73392694	0.80[ASN][1000 genomes]
rs73394715	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7760871	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9295750	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs9461424	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9461425	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9468252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap]
rs9468254	1.00[JPT][hapmap]
rs9468255	0.80[ASN][1000 genomes]
rs9468264	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9885649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]

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	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
3	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
4	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
5	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
6	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27954400-27955600	Enhancers	NHEK	skin
2	chr6:27954600-27955400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:27954800-27955200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:27954800-27955400	Enhancers	HMEC	breast
5	chr6:27955000-27955200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:27955000-27955400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:27955000-27955400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:27955000-27955600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:27955000-27955600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:27955000-27955600	Enhancers	HSMM	muscle
11	chr6:27955000-27955800	Enhancers	Osteobl	bone

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