Variant report

Variant	rs11014523
Chromosome Location	chr10:18790265-18790266
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12257556	0.82[CHB][hapmap]
rs4485000	0.82[CHB][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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11014523	CACNB2	cis	cerebellum	SCAN
rs11014523	NSUN6	cis	parietal	SCAN
rs11014523	CACNB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18775600-18800600	Weak transcription	Fetal Intestine Large	intestine
3	chr10:18776200-18809400	Weak transcription	Right Ventricle	heart
4	chr10:18776200-18812200	Weak transcription	Right Atrium	heart
5	chr10:18778600-18818200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:18779600-18803200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:18781000-18803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:18785400-18808400	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:18786000-18794600	Weak transcription	Aorta	Aorta
10	chr10:18786800-18802000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:18787400-18790400	Weak transcription	Brain Anterior Caudate	brain
12	chr10:18787400-18807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:18787400-18808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:18787400-18810200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:18787600-18794600	Weak transcription	Ovary	ovary
16	chr10:18787600-18803200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:18788000-18801800	Weak transcription	Fetal Stomach	stomach
18	chr10:18788200-18794600	Weak transcription	Fetal Lung	lung
19	chr10:18788200-18808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:18788200-18809600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr10:18789400-18790400	Enhancers	Brain Hippocampus Middle	brain
22	chr10:18789400-18790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:18789400-18790800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:18789800-18790400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:18789800-18790600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:18789800-18790600	Enhancers	NH-A	brain
27	chr10:18789800-18790600	Enhancers	NHDF-Ad	bronchial
28	chr10:18789800-18790600	Enhancers	NHLF	lung
29	chr10:18789800-18807800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:18790000-18790800	Enhancers	GM12878-XiMat	blood
31	chr10:18790000-18793400	Weak transcription	Fetal Heart	heart
32	chr10:18790200-18790400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:18790200-18790600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:18790200-18790600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:18790200-18790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr10:18790200-18790600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr10:18790200-18790600	Strong transcription	Left Ventricle	heart
38	chr10:18790200-18790600	Flanking Active TSS	A549	lung
39	chr10:18790200-18790600	Active TSS	HSMM	muscle
40	chr10:18790200-18790800	Flanking Active TSS	Osteobl	bone

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