Variant report

Variant	rs10911939
Chromosome Location	chr1:186845431-186845432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10798063	1.00[ASN][1000 genomes]
rs10798064	1.00[ASN][1000 genomes]
rs10911941	1.00[ASN][1000 genomes]
rs10911947	0.94[ASN][1000 genomes]
rs10911948	0.94[ASN][1000 genomes]
rs12567046	0.94[ASN][1000 genomes]
rs12567822	1.00[ASN][1000 genomes]
rs16826045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16826049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[ASN][1000 genomes]
rs16826051	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186840400-186849200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:186841000-186853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:186841000-186853800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:186841200-186846400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:186841600-186850200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:186841800-186846600	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:186841800-186850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:186841800-186862400	Weak transcription	Hela-S3	cervix
10	chr1:186843000-186846000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:186843000-186847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:186843400-186846000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186843400-186849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:186843400-186853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:186844200-186851600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:186844400-186850200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:186844800-186846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:186844800-186846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:186844800-186846600	Enhancers	Adipose Nuclei	Adipose
20	chr1:186844800-186847000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:186844800-186848000	Enhancers	NHEK	skin
22	chr1:186845000-186845800	Enhancers	A549	lung
23	chr1:186845000-186846600	Enhancers	NHDF-Ad	bronchial
24	chr1:186845200-186845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:186845200-186845600	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:186845200-186846000	Enhancers	Fetal Brain Female	brain
27	chr1:186845200-186851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:186845200-186856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:186845400-186845600	Enhancers	Fetal Brain Male	brain
30	chr1:186845400-186845800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:186845400-186846800	Enhancers	Colon Smooth Muscle	Colon

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