Variant report

Variant	rs6456617
Chromosome Location	chr6:24480769-24480770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24479050..24480830-chr6:24493777..24496449,3	K562	blood:
2	chr6:24479058..24482024-chr6:24719386..24721628,2	MCF-7	breast:
3	chr6:24478986..24481425-chr6:24502139..24505080,2	K562	blood:
4	chr6:24479722..24482516-chr6:24720019..24721902,2	K562	blood:
5	chr6:24473882..24476723-chr6:24479267..24481656,2	K562	blood:
6	chr6:24480171..24483418-chr6:24487804..24492933,6	K562	blood:
7	chr6:24480472..24482194-chr6:24487804..24490260,2	K562	blood:
8	chr6:24474868..24478017-chr6:24478762..24481656,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112294	Chromatin interaction
ENSG00000112293	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11962469	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889387	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889391	0.90[CEU][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16889440	0.82[CHB][hapmap]
rs2076313	0.82[CHB][hapmap]
rs2243831	0.81[CHB][hapmap]
rs2267539	0.82[CHB][hapmap]
rs2744542	0.82[CHB][hapmap]
rs2744543	0.82[CHB][hapmap]
rs2744544	0.82[CHB][hapmap]
rs2760165	0.82[CHB][hapmap]
rs2760166	0.82[CHB][hapmap]
rs2760172	0.82[CHB][hapmap]
rs2760173	0.82[CHB][hapmap]
rs2760174	0.82[CHB][hapmap]
rs2760175	0.82[CHB][hapmap]
rs2817245	0.82[CHB][hapmap]
rs2817250	0.82[CHB][hapmap]
rs2817251	0.82[CHB][hapmap]
rs2817253	0.82[CHB][hapmap]
rs2817254	0.82[CHB][hapmap]
rs2817255	0.82[CHB][hapmap]
rs35206652	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761793	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56761969	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56763150	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57186149	0.85[AFR][1000 genomes]
rs58479700	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59061545	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60251819	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60816578	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61157495	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61280878	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6901703	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6902445	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6910460	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6911965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916802	0.92[EUR][1000 genomes]
rs6928435	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7738679	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742453	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7742653	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742675	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7748068	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760684	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760909	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760930	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765441	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7765515	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766241	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7766290	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295625	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9461023	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467176	0.92[EUR][1000 genomes]
rs9467182	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9467190	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9467220	0.82[CHB][hapmap]
rs9467231	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6456617	ALDH5A1	cis	Esophagus Mucosa	GTEx

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	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
11	chr6:24471800-24481600	Strong transcription	Liver	Liver
12	chr6:24472600-24489400	Weak transcription	HepG2	liver
13	chr6:24473000-24494600	Weak transcription	Ovary	ovary
14	chr6:24479600-24490200	Weak transcription	Hela-S3	cervix
15	chr6:24480400-24493600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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