Variant report

Variant	rs2460965
Chromosome Location	chr8:119618761-119618762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119617998..119620916-chr8:119621606..119623559,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10108302	0.84[ASN][1000 genomes]
rs10505340	0.84[TSI][hapmap]
rs1568484	0.98[ASN][1000 genomes]
rs2460964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2460966	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460967	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460968	0.82[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460970	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460971	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460972	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[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	0.84[ASN][1000 genomes]
rs2514576	0.83[ASN][1000 genomes]
rs2514591	1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2514592	0.88[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.99[ASN][1000 genomes]
rs2514593	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2514594	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514596	0.81[EUR][1000 genomes];0.95[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	0.86[ASN][1000 genomes]
rs62531943	0.88[ASN][1000 genomes]
rs880033	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs880034	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.96[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2460965	LOC377696	cis	multi-tissue	Pritchard
rs2460965		cis	Lymphoblastoid	GTEx
rs2460965	COLEC10	cis	parietal	SCAN
rs2460965	MAL2	cis	cerebellum	SCAN
rs2460965	SAMD12	cis	multi-tissue	Pritchard
rs2460965	Hs.453941	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119600600-119622600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:119605800-119631800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:119609200-119633000	Weak transcription	Gastric	stomach
4	chr8:119609400-119633600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:119610000-119622000	Weak transcription	Lung	lung
6	chr8:119610400-119626600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:119611400-119618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:119614400-119621400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:119614600-119618800	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:119614600-119619000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:119614600-119626600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:119618600-119619200	Enhancers	Brain Cingulate Gyrus	brain

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