Variant report

Variant	rs11175213
Chromosome Location	chr12:64339934-64339935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10128867	0.81[JPT][hapmap]
rs10437967	0.83[ASN][1000 genomes]
rs10784374	0.85[ASW][hapmap];0.81[CEU][hapmap];0.80[CHD][hapmap];0.83[ASN][1000 genomes]
rs10878094	0.83[ASN][1000 genomes]
rs10878096	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs10878097	0.81[JPT][hapmap]
rs17099952	0.81[JPT][hapmap]
rs7973936	0.83[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
4	chr12:64329800-64343800	Weak transcription	Osteobl	bone
5	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:64330400-64346800	Weak transcription	Gastric	stomach
8	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:64333000-64349200	Weak transcription	HSMM	muscle
10	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:64334800-64343600	Weak transcription	Stomach Mucosa	stomach
12	chr12:64334800-64344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:64334800-64344000	Weak transcription	Fetal Kidney	kidney
14	chr12:64334800-64349800	Weak transcription	Right Atrium	heart
15	chr12:64334800-64349800	Weak transcription	HSMMtube	muscle
16	chr12:64335600-64340400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:64335800-64340400	Enhancers	Brain Anterior Caudate	brain
18	chr12:64335800-64343600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64335800-64343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:64336400-64343800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:64336600-64349200	Weak transcription	NHDF-Ad	bronchial
22	chr12:64337000-64343800	Weak transcription	Fetal Brain Female	brain
23	chr12:64338800-64341200	Weak transcription	A549	lung
24	chr12:64338800-64343400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:64338800-64343400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:64338800-64344000	Weak transcription	Right Ventricle	heart
27	chr12:64338800-64344200	Weak transcription	Left Ventricle	heart
28	chr12:64339000-64343200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:64339000-64343400	Weak transcription	Fetal Stomach	stomach
30	chr12:64339000-64343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:64339000-64343600	Weak transcription	Fetal Intestine Small	intestine
32	chr12:64339000-64343600	Weak transcription	Fetal Lung	lung
33	chr12:64339000-64343800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:64339000-64343800	Weak transcription	Adipose Nuclei	Adipose
35	chr12:64339000-64344000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:64339400-64340000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:64339400-64340000	Enhancers	NHEK	skin
38	chr12:64339400-64340400	Enhancers	HMEC	breast
39	chr12:64339400-64343400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:64339400-64343600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:64339400-64345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:64339600-64340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:64339600-64340400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:64339600-64343400	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:64339600-64344000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:64339600-64349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:64339800-64342000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:64339800-64342000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:64339800-64343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:64339800-64343400	Weak transcription	HepG2	liver

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