Variant report

Variant	rs11183608
Chromosome Location	chr12:47166613-47166614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11183581	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11183589	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183605	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615446	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303637	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12307895	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12311710	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12313822	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12316767	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12318216	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12320235	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12320632	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12322157	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs180410	0.88[EUR][1000 genomes]
rs180412	0.85[EUR][1000 genomes]
rs180415	0.88[EUR][1000 genomes]
rs180416	0.94[EUR][1000 genomes]
rs180417	0.88[EUR][1000 genomes]
rs180419	0.88[EUR][1000 genomes]
rs180420	0.88[EUR][1000 genomes]
rs180421	0.88[EUR][1000 genomes]
rs180426	0.90[EUR][1000 genomes]
rs180430	0.87[EUR][1000 genomes]
rs2111773	0.88[AMR][1000 genomes]
rs2287471	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408621	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768136	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768751	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56819961	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47157400-47172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:47161600-47173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:47163400-47167800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:47163600-47167400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:47163600-47168400	Enhancers	Hela-S3	cervix
6	chr12:47164200-47187800	Genic enhancers	Liver	Liver
7	chr12:47164600-47166800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:47164600-47167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:47164600-47167400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:47164600-47167800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:47164600-47168400	Enhancers	NHDF-Ad	bronchial
12	chr12:47164600-47168400	Enhancers	NHLF	lung
13	chr12:47164800-47169600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:47165000-47168000	Weak transcription	Fetal Heart	heart
15	chr12:47165000-47169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:47165200-47169400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:47165200-47187200	Weak transcription	Fetal Kidney	kidney
18	chr12:47165400-47167000	Weak transcription	Fetal Brain Male	brain
19	chr12:47165400-47167000	Weak transcription	Fetal Lung	lung
20	chr12:47165400-47167600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:47165600-47167600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:47165600-47167800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:47165600-47182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:47165800-47166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:47165800-47166800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:47165800-47166800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:47165800-47167000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:47165800-47167000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:47165800-47167000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:47165800-47167000	Weak transcription	Pancreas	Pancrea
31	chr12:47165800-47167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:47165800-47167400	Weak transcription	NH-A	brain
33	chr12:47165800-47168200	Weak transcription	Left Ventricle	heart
34	chr12:47165800-47169600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:47166000-47167000	Weak transcription	Psoas Muscle	Psoas
36	chr12:47166000-47167000	Weak transcription	HepG2	liver
37	chr12:47166000-47167000	Weak transcription	Osteobl	bone
38	chr12:47166000-47167400	Genic enhancers	HSMM	muscle
39	chr12:47166000-47167800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:47166000-47168400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:47166000-47169000	Enhancers	HSMMtube	muscle

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