Variant report

Variant	rs11616121
Chromosome Location	chr12:29870000-29870001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11614262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12298050	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12303772	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12317831	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12809562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29854400-29879000	Weak transcription	Ovary	ovary
2	chr12:29855600-29878200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:29855800-29891200	Weak transcription	NHLF	lung
4	chr12:29863200-29878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29863400-29870000	Weak transcription	Aorta	Aorta
6	chr12:29863400-29872000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29863400-29878200	Weak transcription	Brain Anterior Caudate	brain
8	chr12:29863400-29878200	Weak transcription	Right Ventricle	heart
9	chr12:29863400-29878800	Weak transcription	Fetal Kidney	kidney
10	chr12:29863400-29879000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:29864200-29872400	Weak transcription	Left Ventricle	heart
13	chr12:29864200-29879400	Weak transcription	Right Atrium	heart
14	chr12:29864600-29878400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:29864600-29878600	Weak transcription	HSMM	muscle
16	chr12:29866000-29879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:29866400-29879000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:29866600-29873000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:29867600-29878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:29867800-29870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:29867800-29871000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:29867800-29871400	Weak transcription	HSMMtube	muscle
23	chr12:29867800-29872400	Weak transcription	Psoas Muscle	Psoas
24	chr12:29867800-29878200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:29867800-29878200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:29867800-29878200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
28	chr12:29868000-29872200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:29868000-29878200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:29868000-29878800	Weak transcription	NHDF-Ad	bronchial
31	chr12:29868000-29885000	Weak transcription	HMEC	breast
32	chr12:29868200-29870800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:29868400-29870800	Weak transcription	Hela-S3	cervix
34	chr12:29868400-29872400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:29868600-29870800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:29868600-29872000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:29868800-29878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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