Variant report

Variant	rs12311212
Chromosome Location	chr12:29879043-29879044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12317831	1.00[YRI][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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29864200-29879400	Weak transcription	Right Atrium	heart
4	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
5	chr12:29868000-29885000	Weak transcription	HMEC	breast
6	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:29873000-29880800	Weak transcription	Hela-S3	cervix
9	chr12:29873200-29880800	Weak transcription	Spleen	Spleen
10	chr12:29873400-29879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29878000-29883000	Enhancers	Left Ventricle	heart
13	chr12:29878200-29879200	Enhancers	Brain Anterior Caudate	brain
14	chr12:29878200-29879600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:29878200-29879600	Enhancers	HSMMtube	muscle
16	chr12:29878200-29879800	Enhancers	Brain Hippocampus Middle	brain
17	chr12:29878200-29880000	Enhancers	HUVEC	blood vessel
18	chr12:29878200-29881200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:29878200-29881800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
21	chr12:29878400-29879600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:29878400-29879800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:29878400-29879800	Enhancers	Fetal Heart	heart
24	chr12:29878400-29880000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:29878400-29880200	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
27	chr12:29878600-29879600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:29878600-29879600	Enhancers	HSMM	muscle
29	chr12:29878600-29879800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:29878600-29879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:29878600-29879800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:29878600-29880200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:29878800-29879200	Enhancers	Fetal Brain Female	brain
34	chr12:29878800-29879200	Active TSS	Stomach Smooth Muscle	stomach
35	chr12:29878800-29879400	Enhancers	NHDF-Ad	bronchial
36	chr12:29878800-29879600	Enhancers	Fetal Brain Male	brain
37	chr12:29878800-29879600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:29878800-29879600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:29878800-29879800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr12:29878800-29880000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:29878800-29880000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:29878800-29880000	Enhancers	Brain Substantia Nigra	brain
43	chr12:29878800-29880000	Enhancers	Fetal Kidney	kidney
44	chr12:29878800-29880000	Enhancers	Right Ventricle	heart
45	chr12:29878800-29880200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:29878800-29880400	Enhancers	Adipose Nuclei	Adipose
47	chr12:29878800-29881600	Enhancers	Fetal Stomach	stomach
48	chr12:29879000-29879200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:29879000-29879200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:29879000-29879200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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