Variant report

Variant	rs2514596
Chromosome Location	chr8:119629086-119629087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10108302	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1568484	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2460964	0.96[ASN][1000 genomes]
rs2460965	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460966	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460967	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460968	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460970	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460972	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2460973	0.81[EUR][1000 genomes]
rs2460975	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460976	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460979	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2460982	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2460983	0.82[ASN][1000 genomes]
rs2514576	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2514591	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2514592	0.96[ASN][1000 genomes]
rs2514593	0.96[ASN][1000 genomes]
rs2514594	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514600	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514608	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514609	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514610	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514611	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2514612	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133404	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62531943	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs880033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs880034	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2514596	SAMD12	cis	Skin Sun Exposed Lower leg	GTEx
rs2514596	SAMD12	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:119609200-119633000	Weak transcription	Gastric	stomach
3	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:119619400-119632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:119623200-119632200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:119623800-119632800	Weak transcription	Fetal Lung	lung
7	chr8:119624200-119632800	Weak transcription	Pancreas	Pancrea
8	chr8:119625200-119632000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:119626400-119630600	Enhancers	Brain Angular Gyrus	brain
10	chr8:119626600-119630600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:119626800-119630800	Enhancers	Brain Hippocampus Middle	brain
12	chr8:119627000-119632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:119627000-119632200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:119627000-119632400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:119627200-119633200	Weak transcription	Aorta	Aorta
16	chr8:119627600-119629200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:119627600-119630600	Enhancers	Brain Substantia Nigra	brain
18	chr8:119627600-119632800	Weak transcription	NHEK	skin
19	chr8:119627600-119633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119627800-119630000	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:119627800-119632000	Weak transcription	GM12878-XiMat	blood
22	chr8:119627800-119632400	Weak transcription	Left Ventricle	heart
23	chr8:119627800-119632400	Weak transcription	Right Atrium	heart
24	chr8:119627800-119632800	Weak transcription	Colonic Mucosa	Colon
25	chr8:119627800-119632800	Weak transcription	Spleen	Spleen
26	chr8:119628000-119631200	Weak transcription	Lung	lung
27	chr8:119628000-119632800	Weak transcription	Esophagus	oesophagus
28	chr8:119628000-119633000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:119628800-119629200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:119629000-119632600	Weak transcription	Brain Anterior Caudate	brain

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