Variant report

Variant	rs617947
Chromosome Location	chr11:72280790-72280791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10898851	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1473885	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	nsv897910	chr11:72154529-72281884	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
4	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72269600-72295200	Weak transcription	Right Atrium	heart
2	chr11:72273600-72282200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72276400-72287800	Weak transcription	Fetal Brain Female	brain
4	chr11:72278200-72281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:72279200-72281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:72279400-72282400	Enhancers	Placenta	Placenta
7	chr11:72279800-72282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:72280000-72281000	Enhancers	NHEK	skin
9	chr11:72280000-72281200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:72280000-72281200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:72280000-72281400	Enhancers	NHLF	lung
12	chr11:72280000-72281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:72280000-72281600	Enhancers	HSMM	muscle
14	chr11:72280000-72281600	Enhancers	NHDF-Ad	bronchial
15	chr11:72280000-72281800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:72280000-72282400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:72280000-72282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:72280000-72283000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:72280000-72283000	Enhancers	HMEC	breast
20	chr11:72280000-72283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:72280000-72283800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:72280200-72281800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:72280200-72282000	Enhancers	Osteobl	bone
24	chr11:72280200-72282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:72280200-72282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:72280400-72282000	Enhancers	NH-A	brain
27	chr11:72280400-72282200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:72280400-72284600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:72280600-72280800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links