Variant report

Variant	rs35722594
Chromosome Location	chr12:26350308-26350309
allele	A/G
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	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12810386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818201	0.97[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	0.85[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	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34218011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34583201	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809138	0.95[ASN][1000 genomes]
rs58747679	0.80[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
rs35722594	SSPN	cis	Adipose Subcutaneous	GTEx
rs35722594	RP11-283G6.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26349200-26350800	Weak transcription	Pancreas	Pancrea
2	chr12:26349200-26352000	Weak transcription	Spleen	Spleen
3	chr12:26349400-26350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:26349400-26350800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:26349400-26351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:26349400-26352000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:26349400-26352200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:26349600-26350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:26349600-26350800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:26349600-26350800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:26349600-26350800	Weak transcription	NHEK	skin
12	chr12:26349600-26351000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:26349600-26351400	Weak transcription	A549	lung
14	chr12:26349600-26351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:26349600-26351600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:26349600-26351800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:26349600-26358000	Weak transcription	Fetal Intestine Small	intestine
18	chr12:26349800-26350400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:26349800-26350600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:26349800-26350600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:26349800-26350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:26349800-26350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:26349800-26350800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:26349800-26350800	Weak transcription	Left Ventricle	heart
25	chr12:26349800-26350800	Weak transcription	Psoas Muscle	Psoas
26	chr12:26349800-26350800	Weak transcription	HMEC	breast
27	chr12:26349800-26351200	Enhancers	Adipose Nuclei	Adipose
28	chr12:26349800-26351200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:26349800-26351200	Enhancers	Fetal Lung	lung
30	chr12:26349800-26351600	Weak transcription	Esophagus	oesophagus
31	chr12:26349800-26351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:26349800-26351800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:26349800-26352400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:26349800-26352600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:26349800-26352600	Enhancers	Osteobl	bone
36	chr12:26349800-26356600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:26349800-26357400	Weak transcription	Ovary	ovary
38	chr12:26349800-26358000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:26350000-26350600	Enhancers	NHLF	lung
40	chr12:26350000-26350800	Weak transcription	Aorta	Aorta
41	chr12:26350000-26350800	Enhancers	Brain Anterior Caudate	brain
42	chr12:26350000-26350800	Enhancers	Rectal Smooth Muscle	rectum
43	chr12:26350000-26350800	Weak transcription	Right Ventricle	heart
44	chr12:26350000-26350800	Active TSS	Stomach Smooth Muscle	stomach
45	chr12:26350000-26351000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:26350000-26351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:26350000-26351400	Enhancers	Brain Angular Gyrus	brain
48	chr12:26350000-26352400	Enhancers	HSMM	muscle
49	chr12:26350000-26352600	Enhancers	Brain Cingulate Gyrus	brain
50	chr12:26350000-26352600	Enhancers	NH-A	brain

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