Variant report

Variant	rs12227932
Chromosome Location	chr12:29853422-29853423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10843454	1.00[EUR][1000 genomes]
rs11050400	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230202	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41321044	0.88[AMR][1000 genomes]
rs60465125	0.86[EUR][1000 genomes]
rs9634108	0.92[AMR][1000 genomes];0.95[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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	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
3	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
2	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:29830200-29857400	Weak transcription	HSMM	muscle
5	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:29848200-29854200	Weak transcription	NHDF-Ad	bronchial
12	chr12:29848200-29855200	Weak transcription	Psoas Muscle	Psoas
13	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart
14	chr12:29850400-29854200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:29852000-29854000	Weak transcription	Fetal Stomach	stomach
16	chr12:29852200-29854600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:29852200-29856600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:29852200-29858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:29852200-29859200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:29852200-29859400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:29852200-29862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:29852200-29862200	Weak transcription	HMEC	breast
23	chr12:29852400-29854000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:29852400-29862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:29852600-29856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:29852600-29857000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:29852600-29859200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:29852800-29854000	Weak transcription	Fetal Kidney	kidney
29	chr12:29852800-29859200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:29853400-29854200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:29853400-29854400	Enhancers	Adipose Nuclei	Adipose
32	chr12:29853400-29854600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29853400-29854600	Enhancers	Osteobl	bone
34	chr12:29853400-29854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29853400-29864000	Weak transcription	Hela-S3	cervix

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