Variant report

Variant	rs2239037
Chromosome Location	chr12:2363716-2363717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1860056	0.82[YRI][hapmap]
rs2370413	1.00[ASW][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2239037	CACNA1C	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2344400-2365000	Weak transcription	Aorta	Aorta
2	chr12:2349400-2364800	Weak transcription	Fetal Brain Male	brain
3	chr12:2352000-2365000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:2353800-2364800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:2353800-2364800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:2353800-2364800	Weak transcription	Fetal Kidney	kidney
7	chr12:2353800-2365000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:2354000-2364800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:2354000-2365000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:2354400-2364800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:2354600-2364800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:2354800-2365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:2355400-2364800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:2355400-2364800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:2356200-2364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:2358000-2364800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:2358000-2364800	Weak transcription	HSMM	muscle
18	chr12:2358200-2364800	Weak transcription	Esophagus	oesophagus
19	chr12:2358200-2364800	Weak transcription	Fetal Lung	lung
20	chr12:2358200-2364800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:2358200-2364800	Weak transcription	Stomach Mucosa	stomach
22	chr12:2358200-2364800	Weak transcription	HSMMtube	muscle
23	chr12:2358400-2364800	Weak transcription	Lung	lung
24	chr12:2358800-2364800	Weak transcription	NH-A	brain
25	chr12:2358800-2365000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:2359600-2365000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:2360200-2363800	Enhancers	Fetal Heart	heart
28	chr12:2360200-2365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:2360600-2365000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:2360800-2365000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:2361000-2364800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:2361200-2364800	Weak transcription	Fetal Thymus	thymus
33	chr12:2361400-2364800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:2361400-2365000	Weak transcription	Osteobl	bone
35	chr12:2361400-2370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:2361600-2363800	Enhancers	Stomach Smooth Muscle	stomach
37	chr12:2361600-2364800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:2361600-2364800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:2361600-2364800	Weak transcription	NHDF-Ad	bronchial
40	chr12:2361600-2365000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:2361800-2364600	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:2361800-2364800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:2361800-2364800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:2361800-2364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:2361800-2364800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:2361800-2364800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:2361800-2364800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:2361800-2364800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:2361800-2364800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:2361800-2364800	Weak transcription	Right Ventricle	heart

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