Variant report

Variant	rs2203712
Chromosome Location	chr11:47534964-47534965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1056387	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10742814	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10742817	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10769264	0.95[JPT][hapmap]
rs10769288	0.85[CEU][hapmap];0.89[CHB][hapmap]
rs10838709	0.95[JPT][hapmap]
rs10838726	0.95[JPT][hapmap]
rs10838732	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs10838740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10838746	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs11039225	0.95[JPT][hapmap]
rs11039244	0.90[JPT][hapmap]
rs11039280	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11039329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11039332	0.90[JPT][hapmap]
rs11039345	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12226590	0.85[AMR][1000 genomes]
rs12286721	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12292911	0.95[JPT][hapmap]
rs12785949	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2242081	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293576	0.95[JPT][hapmap]
rs3740699	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes]
rs3758655	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4539273	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs4752860	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6485758	0.95[JPT][hapmap]
rs6485763	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7103648	0.95[JPT][hapmap]
rs7120548	0.95[JPT][hapmap]
rs7129797	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7933019	0.95[JPT][hapmap]
rs7936948	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7939420	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs7950696	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[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	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2203712	C1QTNF4	cis	multi-tissue	Pritchard
rs2203712	Hs.6637	cis	multi-tissue	Pritchard
rs2203712	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs2203712	FNBP4	cis	lesional skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
2	chr11:47522800-47536200	Weak transcription	Fetal Brain Female	brain
3	chr11:47523000-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47523000-47545600	Weak transcription	Dnd41	blood
5	chr11:47524800-47549600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:47528000-47535000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:47528000-47538200	Enhancers	Osteobl	bone
8	chr11:47528400-47536400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:47528400-47536800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:47528400-47544800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:47528800-47536600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:47528800-47541000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:47529200-47535000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47529200-47536400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:47529200-47536600	Weak transcription	Brain Germinal Matrix	brain
16	chr11:47530200-47543000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr11:47530800-47535200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:47530800-47538000	Enhancers	NHDF-Ad	bronchial
19	chr11:47531000-47536000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:47531000-47536600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:47531200-47535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:47531200-47536000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:47531200-47536200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:47531200-47536400	Weak transcription	Brain Substantia Nigra	brain
25	chr11:47531200-47536600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:47531200-47536800	Weak transcription	Esophagus	oesophagus
27	chr11:47531200-47540400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr11:47531400-47536200	Weak transcription	Thymus	Thymus
29	chr11:47531400-47536400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:47531400-47536600	Weak transcription	Right Atrium	heart
31	chr11:47531600-47536400	Weak transcription	Colonic Mucosa	Colon
32	chr11:47531600-47542000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:47531800-47536400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:47531800-47536600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:47532000-47536000	Weak transcription	Brain Angular Gyrus	brain
36	chr11:47532000-47536200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:47532000-47536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47532000-47536200	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:47532000-47536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:47532000-47536800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:47532000-47539800	Weak transcription	Fetal Intestine Large	intestine
42	chr11:47532200-47536000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:47532200-47536200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:47532200-47536400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:47532200-47536400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:47532200-47536600	Weak transcription	Gastric	stomach
47	chr11:47532200-47536600	Weak transcription	HMEC	breast
48	chr11:47532200-47536800	Weak transcription	Pancreas	Pancrea
49	chr11:47532400-47540600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:47532600-47538200	Weak transcription	Fetal Intestine Small	intestine

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