Variant report

Variant	rs3765311
Chromosome Location	chr6:24503862-24503863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24493719..24496682-chr6:24502881..24505114,2	K562	blood:
2	chr6:24497206..24500144-chr6:24502439..24504926,2	MCF-7	breast:
3	chr6:24501950..24504641-chr6:24720366..24723050,2	MCF-7	breast:
4	chr6:24493044..24496959-chr6:24499053..24507631,9	MCF-7	breast:
5	chr6:24478986..24481425-chr6:24502139..24505080,2	K562	blood:
6	chr6:24491857..24498070-chr6:24502018..24507031,7	MCF-7	breast:
7	chr6:24502718..24505589-chr6:24714099..24715780,2	K562	blood:

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

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2143083	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2328824	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761793	1.00[LWK][hapmap];0.95[YRI][hapmap]
rs7749066	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv883480	chr6:24481299-24507519	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3765311	ALDH5A1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24495800-24517800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:24496000-24513000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:24496000-24517800	Weak transcription	Spleen	Spleen
4	chr6:24496000-24534200	Weak transcription	Gastric	stomach
5	chr6:24496000-24538000	Weak transcription	Esophagus	oesophagus
6	chr6:24496200-24504000	Weak transcription	Fetal Lung	lung
7	chr6:24496200-24505000	Weak transcription	Right Ventricle	heart
8	chr6:24496200-24506200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:24496200-24526400	Weak transcription	Right Atrium	heart
10	chr6:24496200-24527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:24496200-24534200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:24496200-24535000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:24496200-24536200	Weak transcription	Psoas Muscle	Psoas
14	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
15	chr6:24496400-24517200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:24496400-24532200	Weak transcription	Brain Germinal Matrix	brain
17	chr6:24496600-24504000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:24496600-24505000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:24496600-24507000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:24496600-24507400	Weak transcription	Fetal Brain Male	brain
21	chr6:24496600-24512400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:24496800-24507600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:24496800-24508800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:24496800-24517600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:24496800-24522800	Weak transcription	Lung	lung
26	chr6:24496800-24532400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:24497000-24507200	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:24497000-24528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:24497400-24522400	Weak transcription	K562	blood
30	chr6:24498200-24507200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:24498400-24517400	Weak transcription	GM12878-XiMat	blood
32	chr6:24498800-24512200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:24498800-24517600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:24501600-24507200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:24502200-24507000	Strong transcription	Dnd41	blood
36	chr6:24502200-24507600	Strong transcription	Primary T cells from cord blood	blood
37	chr6:24502200-24508200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:24502200-24510200	Strong transcription	Fetal Thymus	thymus
39	chr6:24502400-24506400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:24502400-24508000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:24502600-24507000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:24502600-24511400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:24502800-24504400	Strong transcription	Liver	Liver
44	chr6:24502800-24504800	Weak transcription	A549	lung
45	chr6:24502800-24505200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:24502800-24506400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:24502800-24507800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:24502800-24508000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:24502800-24509200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:24503000-24506000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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