Variant report

Variant	rs11112494
Chromosome Location	chr12:105768707-105768708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10507190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861399	0.81[MEX][hapmap]
rs10861400	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs10861403	0.85[EUR][1000 genomes]
rs10861407	1.00[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10861409	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10861411	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10861412	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10861413	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861417	0.86[ASN][1000 genomes]
rs10861418	0.86[ASN][1000 genomes]
rs11112465	1.00[CHB][hapmap]
rs11112468	1.00[CHB][hapmap]
rs11112469	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs11112475	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs11112478	0.80[EUR][1000 genomes]
rs11112480	0.80[EUR][1000 genomes]
rs11112482	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11112483	0.83[EUR][1000 genomes]
rs11112484	0.85[EUR][1000 genomes]
rs11112485	0.84[EUR][1000 genomes]
rs11112486	0.85[EUR][1000 genomes]
rs11112487	0.85[EUR][1000 genomes]
rs11112488	0.85[EUR][1000 genomes]
rs11112492	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112493	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112495	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112496	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112497	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112498	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112502	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112504	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112505	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112506	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11611618	0.86[ASN][1000 genomes]
rs12371845	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819965	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12820423	0.96[EUR][1000 genomes]
rs12829692	0.87[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs12829741	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831150	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17036960	0.80[EUR][1000 genomes]
rs17041538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888846	0.94[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs34346262	0.85[EUR][1000 genomes]
rs35519603	0.80[EUR][1000 genomes]
rs6797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131942	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302174	0.83[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303242	1.00[CHB][hapmap]
rs73181878	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7968892	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969370	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969665	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972676	1.00[CHB][hapmap]
rs9645790	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9645791	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11112494	C12orf75	cis	Artery Aorta	GTEx
rs11112494	APPL2	cis	lymphoblastoid	GTEx
rs11112494	ANO4	cis	parietal	SCAN
rs11112494	C12orf75	cis	Artery Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
2	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:105746000-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:105747000-105772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:105747000-105773200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:105748000-105776600	Weak transcription	Gastric	stomach
8	chr12:105748800-105776800	Weak transcription	Pancreas	Pancrea
9	chr12:105751000-105769000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:105751200-105776800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:105751400-105775200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:105752400-105776400	Weak transcription	Aorta	Aorta
13	chr12:105752600-105769000	Strong transcription	Dnd41	blood
14	chr12:105758800-105769800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:105759800-105770200	Weak transcription	Primary B cells from cord blood	blood
16	chr12:105760000-105776600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:105761000-105770400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:105762200-105772800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:105762400-105772800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:105762800-105776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:105763000-105776200	Weak transcription	HSMMtube	muscle
22	chr12:105763000-105776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:105763000-105776600	Weak transcription	Fetal Kidney	kidney
24	chr12:105763000-105776800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:105763800-105768800	Strong transcription	NHEK	skin
26	chr12:105763800-105769200	Strong transcription	Osteobl	bone
27	chr12:105764000-105769400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:105764200-105769000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:105764200-105769600	Strong transcription	NHDF-Ad	bronchial
30	chr12:105764400-105769000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:105764600-105773000	Weak transcription	Fetal Thymus	thymus
32	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
33	chr12:105765000-105776800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:105765800-105769200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:105766400-105768800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:105766400-105775200	Weak transcription	HUVEC	blood vessel
37	chr12:105766400-105777000	Weak transcription	GM12878-XiMat	blood
38	chr12:105766600-105770000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:105766600-105776600	Weak transcription	HMEC	breast
40	chr12:105766800-105776400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:105767000-105772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:105767200-105776600	Weak transcription	Fetal Stomach	stomach
43	chr12:105767400-105776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:105767400-105776800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:105767600-105774800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:105767800-105776200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:105768200-105769200	Strong transcription	Primary T cells from cord blood	blood
48	chr12:105768200-105769200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:105768200-105775200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:105768200-105776400	Weak transcription	NH-A	brain

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