Variant report

Variant	rs11229216
Chromosome Location	chr11:57791921-57791922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10896676	0.83[EUR][1000 genomes]
rs11229225	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229228	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229229	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229232	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11229238	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11229240	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11229246	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11229251	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11229255	0.86[CEU][hapmap]
rs12361813	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12793317	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs1349481	1.00[YRI][hapmap]
rs1447173	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17459653	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs17537868	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2441953	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2441956	0.82[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2441971	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514183	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2514205	1.00[CEU][hapmap]
rs28650443	0.80[ASN][1000 genomes]
rs34216610	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs35157521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938884	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4939178	0.88[AFR][1000 genomes]
rs4939179	0.86[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4939185	1.00[YRI][hapmap]
rs61738000	0.91[AFR][1000 genomes]
rs7128492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11229216	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57787800-57794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57790200-57792600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:57790200-57792800	Enhancers	Fetal Muscle Leg	muscle
4	chr11:57790600-57792000	Enhancers	Colonic Mucosa	Colon
5	chr11:57790800-57792800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:57791000-57792400	Enhancers	Fetal Lung	lung
7	chr11:57791200-57792000	Enhancers	Right Atrium	heart
8	chr11:57791200-57792600	Enhancers	NHLF	lung
9	chr11:57791200-57792800	Enhancers	Spleen	Spleen
10	chr11:57791200-57793200	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:57791200-57798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:57791400-57792200	Enhancers	Left Ventricle	heart
13	chr11:57791400-57792200	Enhancers	Pancreas	Pancrea
14	chr11:57791400-57792400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:57791400-57792400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:57791400-57792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:57791400-57792600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:57791400-57792800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:57791400-57792800	Enhancers	HepG2	liver
20	chr11:57791400-57792800	Enhancers	HUVEC	blood vessel
21	chr11:57791400-57793400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:57791400-57793400	Enhancers	Psoas Muscle	Psoas
23	chr11:57791600-57792200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:57791600-57792200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:57791600-57792200	Enhancers	Small Intestine	intestine
26	chr11:57791600-57792200	Enhancers	Stomach Mucosa	stomach
27	chr11:57791600-57792400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:57791600-57792400	Enhancers	Esophagus	oesophagus
29	chr11:57791600-57792600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr11:57791600-57792600	Enhancers	Placenta	Placenta
31	chr11:57791600-57792600	Enhancers	HSMMtube	muscle
32	chr11:57791600-57792800	Enhancers	Lung	lung
33	chr11:57791800-57792000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:57791800-57792200	Enhancers	Adipose Nuclei	Adipose
35	chr11:57791800-57792200	Flanking Active TSS	HSMM	muscle
36	chr11:57791800-57792200	Enhancers	Osteobl	bone

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