Variant report

Variant	rs10437967
Chromosome Location	chr12:64339048-64339049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10784373	0.91[ASN][1000 genomes]
rs10784374	0.95[ASN][1000 genomes]
rs10878094	0.95[ASN][1000 genomes]
rs11175208	0.90[ASN][1000 genomes]
rs11175213	0.83[ASN][1000 genomes]
rs12230334	0.90[ASN][1000 genomes]
rs3911399	0.91[ASN][1000 genomes]
rs3911400	0.91[ASN][1000 genomes]
rs7965316	0.91[ASN][1000 genomes]
rs7973936	0.95[ASN][1000 genomes]
rs9668434	0.90[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10437967	HSF5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
3	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
6	chr12:64329400-64339400	Weak transcription	HMEC	breast
7	chr12:64329800-64343800	Weak transcription	Osteobl	bone
8	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:64330400-64346800	Weak transcription	Gastric	stomach
11	chr12:64332000-64339200	Weak transcription	NHLF	lung
12	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:64333000-64349200	Weak transcription	HSMM	muscle
14	chr12:64334600-64343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:64334800-64339400	Weak transcription	Ovary	ovary
16	chr12:64334800-64343600	Weak transcription	Stomach Mucosa	stomach
17	chr12:64334800-64344000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:64334800-64344000	Weak transcription	Fetal Kidney	kidney
19	chr12:64334800-64349800	Weak transcription	Right Atrium	heart
20	chr12:64334800-64349800	Weak transcription	HSMMtube	muscle
21	chr12:64335600-64339400	Weak transcription	NHEK	skin
22	chr12:64335600-64340400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:64335800-64340400	Enhancers	Brain Anterior Caudate	brain
24	chr12:64335800-64343600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:64335800-64343800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:64336400-64343800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:64336600-64349200	Weak transcription	NHDF-Ad	bronchial
28	chr12:64337000-64343800	Weak transcription	Fetal Brain Female	brain
29	chr12:64337400-64339600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:64337400-64339800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64337800-64339200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:64337800-64339800	Enhancers	Pancreas	Pancrea
33	chr12:64338200-64339200	Enhancers	Brain Germinal Matrix	brain
34	chr12:64338200-64339400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:64338200-64339600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:64338200-64339800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:64338200-64339800	Enhancers	Lung	lung
38	chr12:64338400-64339400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:64338400-64339800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:64338400-64339800	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:64338600-64339400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:64338600-64339400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:64338600-64339400	Weak transcription	Placenta	Placenta
44	chr12:64338600-64339600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:64338800-64339200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:64338800-64339600	Enhancers	Brain Hippocampus Middle	brain
47	chr12:64338800-64339600	Weak transcription	Spleen	Spleen
48	chr12:64338800-64341200	Weak transcription	A549	lung
49	chr12:64338800-64343400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:64338800-64343400	Weak transcription	Brain Substantia Nigra	brain

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