Variant report

Variant	rs9358768
Chromosome Location	chr6:24471393-24471394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2244216	0.82[EUR][1000 genomes]
rs2251547	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2744570	0.85[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2744573	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744574	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2744584	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs2744586	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2744601	0.84[GIH][hapmap]
rs2817214	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2817220	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2817223	1.00[JPT][hapmap]
rs2817244	0.82[EUR][1000 genomes]
rs2817246	0.81[EUR][1000 genomes]
rs2817257	0.80[EUR][1000 genomes]
rs62400470	0.87[ASN][1000 genomes]
rs760903	0.82[EUR][1000 genomes]
rs807516	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs807517	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs9393559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv2763542	chr6:24445131-24520637	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv519552	chr6:24451256-24524704	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9358768	ALDH5A1	cis	Muscle Skeletal	GTEx
rs9358768	ALDH5A1	cis	lung	GTEx
rs9358768	MRS2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
5	chr6:24448800-24488000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:24458600-24489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:24458800-24492800	Weak transcription	Thymus	Thymus
8	chr6:24458800-24494000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:24470400-24483800	Weak transcription	Aorta	Aorta
10	chr6:24470600-24472400	Weak transcription	Osteobl	bone
11	chr6:24470600-24477000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
13	chr6:24470800-24472000	Weak transcription	Hela-S3	cervix
14	chr6:24470800-24472200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:24471000-24471800	Weak transcription	Liver	Liver

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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