Variant report

Variant	rs280942
Chromosome Location	chr13:30194288-30194289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2263207	0.81[ASN][1000 genomes]
rs2669028	0.97[ASN][1000 genomes]
rs2776418	0.97[ASN][1000 genomes]
rs280905	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs280907	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs280908	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs280941	0.96[ASN][1000 genomes]
rs280943	0.99[ASN][1000 genomes]
rs280944	0.98[ASN][1000 genomes]
rs280945	0.97[ASN][1000 genomes]
rs482876	0.98[ASN][1000 genomes]
rs489679	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs517178	0.98[ASN][1000 genomes]
rs524368	0.82[ASN][1000 genomes]
rs529739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs535141	0.82[ASN][1000 genomes]
rs538385	0.81[ASN][1000 genomes]
rs550984	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs563630	0.82[ASN][1000 genomes]
rs566736	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs570095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs571899	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590377	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs606753	0.98[ASN][1000 genomes]
rs630273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs648326	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs819400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs819401	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs9506207	0.92[ASN][1000 genomes]
rs9508515	0.91[ASN][1000 genomes]
rs9551710	0.92[ASN][1000 genomes]
rs9551714	0.82[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	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs280942	SLC7A1	cis	cerebellum	SCAN
rs280942	SLC7A1	Cis_1M	lymphoblastoid	RTeQTL
rs280942	RASL11A	cis	cerebellum	SCAN
rs280942	PAN3	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30193400-30196400	Enhancers	NHDF-Ad	bronchial
2	chr13:30193600-30194600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:30193800-30194400	Enhancers	NH-A	brain
4	chr13:30193800-30196400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:30193800-30197000	Enhancers	Osteobl	bone
6	chr13:30194000-30195600	Enhancers	HSMM	muscle
7	chr13:30194200-30195600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:30194200-30195600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:30194200-30196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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