Variant report

Variant	rs302364
Chromosome Location	chr12:29878241-29878242
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	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10083018	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs177348	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182487	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs184223	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs188552	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2199621	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs302365	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs389508	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4931214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61802	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29854400-29879000	Weak transcription	Ovary	ovary
2	chr12:29855800-29891200	Weak transcription	NHLF	lung
3	chr12:29863200-29878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:29863400-29878800	Weak transcription	Fetal Kidney	kidney
5	chr12:29863400-29879000	Weak transcription	Brain Angular Gyrus	brain
6	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:29864200-29879400	Weak transcription	Right Atrium	heart
8	chr12:29864600-29878400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:29864600-29878600	Weak transcription	HSMM	muscle
10	chr12:29866000-29879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:29866400-29879000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:29867600-29878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:29867800-29881200	Weak transcription	Small Intestine	intestine
14	chr12:29868000-29878800	Weak transcription	NHDF-Ad	bronchial
15	chr12:29868000-29885000	Weak transcription	HMEC	breast
16	chr12:29868600-29885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:29868800-29878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:29871200-29878800	Weak transcription	Brain Substantia Nigra	brain
19	chr12:29872600-29878800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:29872600-29884000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:29873000-29880800	Weak transcription	Hela-S3	cervix
22	chr12:29873200-29880800	Weak transcription	Spleen	Spleen
23	chr12:29873400-29878400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:29873400-29878600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:29873400-29879000	Weak transcription	Psoas Muscle	Psoas
26	chr12:29873400-29879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:29875400-29891600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:29876800-29878600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:29878000-29883000	Enhancers	Left Ventricle	heart
30	chr12:29878200-29878400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:29878200-29878400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:29878200-29878400	Enhancers	Aorta	Aorta
33	chr12:29878200-29878400	Enhancers	Right Ventricle	heart
34	chr12:29878200-29878600	Enhancers	Stomach Smooth Muscle	stomach
35	chr12:29878200-29878800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:29878200-29878800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:29878200-29879200	Enhancers	Brain Anterior Caudate	brain
38	chr12:29878200-29879600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:29878200-29879600	Enhancers	HSMMtube	muscle
40	chr12:29878200-29879800	Enhancers	Brain Hippocampus Middle	brain
41	chr12:29878200-29880000	Enhancers	HUVEC	blood vessel
42	chr12:29878200-29881200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:29878200-29881800	Enhancers	Fetal Muscle Leg	muscle
44	chr12:29878200-29889000	Enhancers	Colon Smooth Muscle	Colon

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