Variant report

Variant	rs6901703
Chromosome Location	chr6:24475300-24475301
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24474868..24478017-chr6:24478762..24481656,3	K562	blood:
2	chr6:24473882..24476723-chr6:24479267..24481656,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11962469	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16889387	0.82[ASN][1000 genomes]
rs16889391	0.90[CEU][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16889440	0.84[CHB][hapmap]
rs2267539	0.84[CHB][hapmap]
rs2817245	0.84[CHB][hapmap]
rs35206652	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3761793	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap]
rs55968948	0.91[AFR][1000 genomes]
rs56761969	0.82[ASN][1000 genomes]
rs56763150	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58479700	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59061545	0.82[ASN][1000 genomes]
rs60251819	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60816578	0.82[ASN][1000 genomes]
rs61157495	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61280878	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6456617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6902445	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916802	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6928435	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738679	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7742453	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7742653	0.85[ASN][1000 genomes]
rs7742675	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7748068	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7760684	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7760909	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7760930	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7765441	0.83[ASN][1000 genomes]
rs7765515	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7766241	0.82[ASN][1000 genomes]
rs7766290	0.82[ASN][1000 genomes]
rs9295625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461023	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467176	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9467182	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9467190	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6901703	ALDH5A1	cis	Esophagus Mucosa	GTEx
rs6901703	HIST1H2BA	cis	parietal	SCAN
rs6901703	HIST1H2BG	cis	parietal	SCAN
rs6901703	MRS2	cis	cerebellum	SCAN

Chromatin state (count:14 , 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	chr6:24470600-24477000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
12	chr6:24471800-24481600	Strong transcription	Liver	Liver
13	chr6:24472600-24489400	Weak transcription	HepG2	liver
14	chr6:24473000-24494600	Weak transcription	Ovary	ovary

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