Variant report

Variant	rs34583201
Chromosome Location	chr12:26357250-26357251
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12582448	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810386	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12818201	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1480036	0.80[ASN][1000 genomes]
rs16930329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17380837	0.94[ASN][1000 genomes]
rs34004743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34218011	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35722594	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809138	0.94[ASN][1000 genomes]
rs58747679	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7134738	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34583201	SSPN	cis	Adipose Subcutaneous	GTEx
rs34583201	RP11-283G6.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26349600-26358000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:26349800-26357400	Weak transcription	Ovary	ovary
3	chr12:26349800-26358000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:26350600-26357600	Weak transcription	NHLF	lung
5	chr12:26351000-26357800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:26351200-26357400	Weak transcription	Right Ventricle	heart
7	chr12:26351400-26358000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:26352000-26357400	Weak transcription	Left Ventricle	heart
9	chr12:26352000-26357800	Weak transcription	Small Intestine	intestine
10	chr12:26352000-26358000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:26352200-26357800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:26352200-26365200	Weak transcription	HSMMtube	muscle
13	chr12:26352600-26357600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:26352600-26358000	Weak transcription	Osteobl	bone
15	chr12:26352800-26357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:26352800-26358000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:26353000-26357400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:26353600-26357600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:26354600-26357400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:26355400-26359200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:26355800-26357400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:26356200-26357400	Enhancers	Brain Substantia Nigra	brain
23	chr12:26356400-26357600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:26356400-26357800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:26356600-26357600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:26356600-26357800	Enhancers	Aorta	Aorta
27	chr12:26356600-26358200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr12:26356600-26358600	Enhancers	Fetal Muscle Leg	muscle
29	chr12:26356800-26359000	Enhancers	Fetal Heart	heart
30	chr12:26357000-26357600	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:26357000-26357600	Enhancers	Brain Hippocampus Middle	brain
32	chr12:26357000-26357600	Active TSS	Fetal Kidney	kidney
33	chr12:26357000-26357800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:26357000-26359200	Enhancers	Psoas Muscle	Psoas
35	chr12:26357200-26357400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:26357200-26357600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:26357200-26357800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:26357200-26358200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:26357200-26358600	Enhancers	Fetal Lung	lung
40	chr12:26357200-26358800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:26357200-26359000	Weak transcription	Fetal Muscle Trunk	muscle

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