Variant report

Variant	rs12817170
Chromosome Location	chr12:29881760-29881761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16934812	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35109341	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71453754	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754910	0.92[EUR][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	chr12:29855800-29891200	Weak transcription	NHLF	lung
2	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29868000-29885000	Weak transcription	HMEC	breast
4	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29878000-29883000	Enhancers	Left Ventricle	heart
8	chr12:29878200-29881800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon
10	chr12:29878400-29887400	Weak transcription	Aorta	Aorta
11	chr12:29879200-29883000	Weak transcription	Fetal Brain Female	brain
12	chr12:29879200-29884000	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:29879200-29887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:29879400-29891600	Weak transcription	NHDF-Ad	bronchial
15	chr12:29879600-29883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:29879600-29884200	Weak transcription	Fetal Brain Male	brain
17	chr12:29879600-29885200	Weak transcription	Fetal Lung	lung
18	chr12:29879600-29892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:29879600-29894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:29879800-29882600	Weak transcription	Fetal Heart	heart
21	chr12:29879800-29883400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:29879800-29885200	Weak transcription	Osteobl	bone
23	chr12:29879800-29886200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:29879800-29886600	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:29880000-29882600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:29880000-29885000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:29880000-29885200	Weak transcription	HUVEC	blood vessel
29	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
30	chr12:29880200-29882400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:29880200-29884600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:29880800-29885600	Enhancers	Psoas Muscle	Psoas
34	chr12:29881000-29881800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:29881000-29882600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:29881000-29883000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:29881200-29882600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:29881200-29883600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:29881400-29881800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:29881400-29882000	Weak transcription	Hela-S3	cervix
42	chr12:29881400-29882200	Weak transcription	Right Ventricle	heart
43	chr12:29881400-29884600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:29881400-29885800	Weak transcription	Spleen	Spleen
45	chr12:29881400-29887200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:29881400-29890600	Weak transcription	Ovary	ovary
47	chr12:29881600-29881800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:29881600-29882000	Weak transcription	Right Atrium	heart
49	chr12:29881600-29882400	Weak transcription	Fetal Stomach	stomach
50	chr12:29881600-29882400	Weak transcription	HSMMtube	muscle

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