Variant report

Variant	rs12810386
Chromosome Location	chr12:26351890-26351891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12582448	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480036	0.82[ASN][1000 genomes]
rs16930329	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17380837	0.95[ASN][1000 genomes]
rs34004743	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34218011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583201	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35722594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809138	0.95[ASN][1000 genomes]
rs58747679	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7134738	0.83[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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12810386	RP11-283G6.5	cis	Adipose Subcutaneous	GTEx
rs12810386	SSPN	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26349200-26352000	Weak transcription	Spleen	Spleen
2	chr12:26349400-26352000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:26349400-26352200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:26349600-26358000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26349800-26352400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr12:26349800-26352600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:26349800-26352600	Enhancers	Osteobl	bone
8	chr12:26349800-26356600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:26349800-26357400	Weak transcription	Ovary	ovary
10	chr12:26349800-26358000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:26350000-26352400	Enhancers	HSMM	muscle
12	chr12:26350000-26352600	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:26350000-26352600	Enhancers	NH-A	brain
14	chr12:26350000-26352800	Enhancers	Colon Smooth Muscle	Colon
15	chr12:26350000-26353600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:26350200-26352000	Enhancers	Fetal Muscle Leg	muscle
17	chr12:26350200-26352400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:26350200-26352600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:26350200-26352600	Enhancers	Fetal Heart	heart
20	chr12:26350200-26353200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:26350600-26352800	Enhancers	NHDF-Ad	bronchial
22	chr12:26350600-26357600	Weak transcription	NHLF	lung
23	chr12:26350800-26352000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:26350800-26352000	Enhancers	Fetal Intestine Large	intestine
25	chr12:26350800-26352000	Enhancers	Left Ventricle	heart
26	chr12:26350800-26352000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:26350800-26352000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr12:26350800-26352000	Enhancers	Hela-S3	cervix
29	chr12:26350800-26352200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:26350800-26352200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:26350800-26352200	Enhancers	HMEC	breast
32	chr12:26350800-26352200	Enhancers	NHEK	skin
33	chr12:26351000-26352000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:26351000-26352000	Enhancers	Small Intestine	intestine
35	chr12:26351000-26352200	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:26351000-26352200	Enhancers	HSMMtube	muscle
37	chr12:26351000-26355800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:26351000-26357800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:26351200-26353000	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:26351200-26355800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:26351200-26357400	Weak transcription	Right Ventricle	heart
42	chr12:26351400-26352200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:26351400-26352800	Enhancers	Brain Anterior Caudate	brain
44	chr12:26351400-26353200	Enhancers	Brain Substantia Nigra	brain
45	chr12:26351400-26353600	Weak transcription	Brain Angular Gyrus	brain
46	chr12:26351400-26358000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:26351600-26352000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:26351600-26352000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:26351600-26356600	Weak transcription	Aorta	Aorta
50	chr12:26351800-26352000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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