Variant report

Variant	rs11691929
Chromosome Location	chr2:113348962-113348963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113290591..113292898-chr2:113348416..113351140,2	K562	blood:
2	chr2:113348504..113351091-chr2:113356054..113358195,2	MCF-7	breast:
3	chr2:113340743..113344553-chr2:113348557..113351164,3	K562	blood:
4	chr2:113238355..113239872-chr2:113348912..113351781,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000114999	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10171686	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10190108	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11694460	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694966	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12469092	0.86[ASN][1000 genomes]
rs12477807	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12611573	0.89[ASN][1000 genomes]
rs12613849	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34725617	0.81[EUR][1000 genomes]
rs3849317	0.83[JPT][hapmap]
rs3961913	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4848284	0.83[JPT][hapmap]
rs6748577	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749723	0.93[ASN][1000 genomes]
rs6757781	0.83[JPT][hapmap]
rs7594007	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7606487	0.94[ASN][1000 genomes]
rs934748	0.89[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs934749	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11691929	LOC653596	cis	multi-tissue	Pritchard
rs11691929	EDAR	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113343000-113349400	Enhancers	Pancreas	Pancrea
2	chr2:113343000-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:113343200-113349000	Weak transcription	Colonic Mucosa	Colon
4	chr2:113343200-113353000	Weak transcription	NH-A	brain
5	chr2:113343200-113357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:113343200-113357400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:113343200-113357400	Weak transcription	A549	lung
8	chr2:113343200-113357400	Weak transcription	HMEC	breast
9	chr2:113343200-113357400	Weak transcription	NHDF-Ad	bronchial
10	chr2:113343400-113349600	Strong transcription	Primary T cells from cord blood	blood
11	chr2:113343400-113357400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:113343600-113349000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:113343600-113349400	Strong transcription	Fetal Intestine Large	intestine
14	chr2:113343600-113357400	Weak transcription	K562	blood
15	chr2:113343600-113357600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:113343800-113349000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:113343800-113349400	Strong transcription	Thymus	Thymus
18	chr2:113343800-113349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:113343800-113357600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:113344000-113349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:113344000-113349000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:113344000-113349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:113344000-113349000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:113344000-113349400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:113344200-113360800	Weak transcription	Fetal Brain Male	brain
26	chr2:113344400-113350000	Weak transcription	Esophagus	oesophagus
27	chr2:113344800-113349200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:113344800-113349600	Strong transcription	Primary B cells from cord blood	blood
29	chr2:113344800-113350000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:113344800-113357600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:113345000-113350000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:113345200-113350000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:113345200-113352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:113345200-113357400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:113345200-113357600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:113345400-113357600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:113346200-113350000	Weak transcription	Fetal Lung	lung
38	chr2:113346400-113351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:113346400-113353400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:113346400-113357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:113346400-113357600	Weak transcription	Liver	Liver
42	chr2:113346400-113357600	Weak transcription	Brain Angular Gyrus	brain
43	chr2:113346400-113357600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:113346400-113357600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:113346400-113357600	Weak transcription	Fetal Kidney	kidney
46	chr2:113346800-113349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:113346800-113349200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:113346800-113349400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:113346800-113350000	Weak transcription	Aorta	Aorta
50	chr2:113346800-113350800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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