Variant report

Variant	rs11214592
Chromosome Location	chr11:113250473-113250474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1055076	0.86[CHB][hapmap];0.84[CHD][hapmap];0.84[ASN][1000 genomes]
rs10891541	0.86[ASN][1000 genomes]
rs10891542	0.86[ASN][1000 genomes]
rs10891545	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs11214597	0.91[JPT][hapmap]
rs1124492	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs12224538	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12285457	0.84[ASN][1000 genomes]
rs2276070	0.87[JPT][hapmap]
rs28712705	0.86[ASN][1000 genomes]
rs3781884	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4590907	0.82[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4938010	0.83[ASN][1000 genomes]
rs4938011	0.83[ASN][1000 genomes]
rs4938014	0.82[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4987094	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs61492892	0.81[ASN][1000 genomes]
rs713233	0.82[JPT][hapmap]
rs719803	0.87[JPT][hapmap]
rs73557236	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs877138	0.81[CHD][hapmap]

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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11214592	TTC12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113232200-113257400	Weak transcription	Small Intestine	intestine
2	chr11:113239400-113251600	Weak transcription	Aorta	Aorta
3	chr11:113240200-113258400	Weak transcription	Spleen	Spleen
4	chr11:113240800-113255800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:113241800-113257800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:113242000-113253000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:113244200-113255800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:113244400-113256400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:113244600-113254600	Weak transcription	HSMM	muscle
10	chr11:113244800-113257400	Weak transcription	Lung	lung
11	chr11:113245600-113254200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:113249000-113255200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:113249000-113255400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:113249000-113257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:113249200-113252800	Weak transcription	HSMMtube	muscle
16	chr11:113249200-113255400	Weak transcription	Placenta	Placenta
17	chr11:113249200-113257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:113249200-113258200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:113249400-113253800	Weak transcription	Fetal Heart	heart
20	chr11:113249400-113255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:113249600-113252800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:113249800-113252600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:113249800-113254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:113249800-113254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:113250000-113253200	Weak transcription	HMEC	breast
26	chr11:113250000-113255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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