Variant report

Variant	rs2514591
Chromosome Location	chr8:119611476-119611477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10108302	0.84[ASN][1000 genomes]
rs1568484	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460964	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2460965	1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2460966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2460967	0.92[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2460968	1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2460970	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2460971	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2460972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2460975	0.86[ASN][1000 genomes]
rs2460976	0.86[ASN][1000 genomes]
rs2460979	0.86[ASN][1000 genomes]
rs2460982	0.83[ASN][1000 genomes]
rs2460983	0.82[ASN][1000 genomes]
rs2514576	0.83[ASN][1000 genomes]
rs2514592	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514593	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2514596	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2514600	0.86[ASN][1000 genomes]
rs2514608	0.86[ASN][1000 genomes]
rs2514609	0.86[ASN][1000 genomes]
rs2514610	0.86[ASN][1000 genomes]
rs2514611	0.83[ASN][1000 genomes]
rs2514612	0.83[ASN][1000 genomes]
rs3133404	0.88[ASN][1000 genomes]
rs62531943	0.90[ASN][1000 genomes]
rs880033	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs880034	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2514591		cis	Lymphoblastoid	GTEx
rs2514591	Hs.453941	cis	multi-tissue	Pritchard
rs2514591	COLEC10	cis	parietal	SCAN
rs2514591	SAMD12	cis	Lymphoblastoid	GTEx
rs2514591	LOC377696	cis	multi-tissue	Pritchard
rs2514591	SAMD12	cis	multi-tissue	Pritchard
rs2514591	SAMD12	cis	Skin Sun Exposed Lower leg	GTEx
rs2514591	CCL3L1	trans	brain	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119600600-119622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:119605600-119613200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:119608400-119614000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:119609200-119633000	Weak transcription	Gastric	stomach
6	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:119610000-119622000	Weak transcription	Lung	lung
8	chr8:119610200-119613800	Weak transcription	Brain Substantia Nigra	brain
9	chr8:119610400-119613200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:119610400-119626600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:119610600-119613200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:119610600-119613200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:119610600-119613800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:119611400-119618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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