Variant report

Variant	rs12314231
Chromosome Location	chr12:29861472-29861473
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]
rs7980715	0.83[AFR][1000 genomes]

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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:29852200-29862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:29852200-29862200	Weak transcription	HMEC	breast
6	chr12:29852400-29862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix
8	chr12:29854400-29866000	Weak transcription	HSMMtube	muscle
9	chr12:29854400-29879000	Weak transcription	Ovary	ovary
10	chr12:29854600-29862600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:29854600-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:29855600-29862800	Weak transcription	Aorta	Aorta
13	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:29855800-29891200	Weak transcription	NHLF	lung
15	chr12:29857800-29862000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:29858200-29862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:29858200-29862800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:29858200-29863000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:29858200-29863000	Weak transcription	HSMM	muscle
20	chr12:29858400-29862600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:29858600-29862800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:29859000-29862600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:29859000-29864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:29859200-29862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:29859200-29862800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:29859200-29862800	Weak transcription	Right Ventricle	heart
27	chr12:29859200-29863200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:29859200-29867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:29859400-29861600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:29859400-29861800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:29859400-29862600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:29859400-29862600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:29859600-29862800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:29859600-29862800	Weak transcription	Brain Germinal Matrix	brain
35	chr12:29859600-29862800	Weak transcription	Brain Substantia Nigra	brain
36	chr12:29859800-29862000	Weak transcription	Fetal Brain Male	brain
37	chr12:29859800-29862600	Weak transcription	Fetal Heart	heart
38	chr12:29860200-29861600	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:29860200-29862000	Weak transcription	Fetal Stomach	stomach
40	chr12:29860200-29862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:29860200-29862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:29860400-29863600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:29860600-29861600	Enhancers	Adipose Nuclei	Adipose
44	chr12:29860800-29862200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:29860800-29863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:29860800-29863000	Weak transcription	Right Atrium	heart
47	chr12:29860800-29864000	Weak transcription	Spleen	Spleen
48	chr12:29861000-29862800	Weak transcription	Psoas Muscle	Psoas
49	chr12:29861000-29863000	Weak transcription	Fetal Kidney	kidney
50	chr12:29861000-29863000	Weak transcription	Left Ventricle	heart

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