Variant report

Variant	rs11947990
Chromosome Location	chr5:167186623-167186624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167185874..167188275-chr5:167189453..167191702,2	K562	blood:
2	chr5:167182573..167184424-chr5:167185880..167187597,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11950866	1.00[AMR][1000 genomes]
rs2112311	1.00[AMR][1000 genomes]
rs58950178	1.00[AMR][1000 genomes]
rs6892870	1.00[AMR][1000 genomes]
rs73801315	1.00[AMR][1000 genomes]
rs73801316	1.00[AMR][1000 genomes]
rs73801361	1.00[AMR][1000 genomes]
rs7736522	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167182200-167191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167182400-167190200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:167183400-167197200	Weak transcription	HSMMtube	muscle
4	chr5:167183600-167190600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:167184000-167191800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167185000-167188000	Enhancers	HMEC	breast
7	chr5:167185000-167192800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:167185200-167186800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:167185200-167187000	Enhancers	NH-A	brain
10	chr5:167185200-167188200	Enhancers	NHEK	skin
11	chr5:167185200-167193000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167185400-167186800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:167185400-167186800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:167186000-167187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:167186000-167187400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:167186200-167186800	Enhancers	A549	lung
17	chr5:167186200-167186800	Enhancers	Hela-S3	cervix
18	chr5:167186200-167186800	Enhancers	NHDF-Ad	bronchial
19	chr5:167186200-167186800	Enhancers	Osteobl	bone
20	chr5:167186400-167186800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:167186600-167187000	Enhancers	HSMM	muscle
22	chr5:167186600-167190600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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