Variant report

Variant	rs184223
Chromosome Location	chr12:29880829-29880830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10082801	0.85[EUR][1000 genomes]
rs10083018	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs177348	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs182487	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188552	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2199621	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs302364	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs302365	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389508	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931214	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61800	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61802	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][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:57 , 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	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
4	chr12:29868000-29885000	Weak transcription	HMEC	breast
5	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29878000-29883000	Enhancers	Left Ventricle	heart
9	chr12:29878200-29881200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:29878200-29881800	Enhancers	Fetal Muscle Leg	muscle
11	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
12	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
13	chr12:29878800-29881600	Enhancers	Fetal Stomach	stomach
14	chr12:29879200-29883000	Weak transcription	Fetal Brain Female	brain
15	chr12:29879200-29884000	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
18	chr12:29879600-29881000	Weak transcription	HSMM	muscle
19	chr12:29879600-29881000	Weak transcription	HSMMtube	muscle
20	chr12:29879600-29881000	Weak transcription	NH-A	brain
21	chr12:29879600-29883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:29879600-29884200	Weak transcription	Fetal Brain Male	brain
23	chr12:29879600-29885200	Weak transcription	Fetal Lung	lung
24	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:29879800-29881000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:29879800-29881000	Weak transcription	Ovary	ovary
28	chr12:29879800-29882600	Weak transcription	Fetal Heart	heart
29	chr12:29879800-29883400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:29879800-29885200	Weak transcription	Osteobl	bone
31	chr12:29879800-29886200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:29879800-29886600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:29880000-29881000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:29880000-29881000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:29880000-29881000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:29880000-29881000	Weak transcription	Right Ventricle	heart
38	chr12:29880000-29882600	Weak transcription	Brain Anterior Caudate	brain
39	chr12:29880000-29885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:29880000-29885200	Weak transcription	HUVEC	blood vessel
41	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
42	chr12:29880200-29882400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:29880200-29884600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:29880600-29881200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:29880800-29881400	Genic enhancers	Muscle Satellite Cultured Cells	--
47	chr12:29880800-29881400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:29880800-29881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:29880800-29881400	Enhancers	Spleen	Spleen
50	chr12:29880800-29881400	Strong transcription	Hela-S3	cervix

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