Variant report

Variant	rs17482717
Chromosome Location	chr1:165663798-165663799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165662126..165664013-chr1:165666250..165668265,2	K562	blood:

Variant related genes	Relation type
ENSG00000215838	Chromatin interaction
ENSG00000143149	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10753688	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10753689	0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10800132	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10800133	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10918242	0.96[ASN][1000 genomes]
rs10918245	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10918251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918252	0.94[ASN][1000 genomes]
rs12021795	0.86[ASN][1000 genomes]
rs12033254	0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12036561	0.96[ASN][1000 genomes]
rs12037790	0.93[ASN][1000 genomes]
rs12084748	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409168	0.93[ASN][1000 genomes]
rs12567331	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12728137	0.94[ASN][1000 genomes]
rs3845536	0.84[ASN][1000 genomes]
rs4307543	0.96[ASN][1000 genomes]
rs4576644	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4578194	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4646883	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4646885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657463	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657466	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657468	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs71628390	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541817	0.96[ASN][1000 genomes]
rs7546215	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7546322	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17482717	ALDH9A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165638000-165666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:165638600-165665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:165650000-165666800	Weak transcription	Colonic Mucosa	Colon
4	chr1:165651600-165665400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:165651600-165667200	Weak transcription	Gastric	stomach
6	chr1:165651800-165665200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:165651800-165665200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:165651800-165665400	Weak transcription	Small Intestine	intestine
9	chr1:165652000-165664000	Weak transcription	Fetal Brain Male	brain
10	chr1:165652200-165665400	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:165652200-165665800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:165652200-165666000	Weak transcription	Fetal Kidney	kidney
13	chr1:165652200-165666800	Weak transcription	Lung	lung
14	chr1:165652400-165665200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:165652400-165665400	Weak transcription	HMEC	breast
16	chr1:165652400-165665400	Weak transcription	NH-A	brain
17	chr1:165652400-165665800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:165652400-165665800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:165652400-165665800	Weak transcription	HSMMtube	muscle
20	chr1:165652400-165666800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:165652400-165666800	Weak transcription	Esophagus	oesophagus
22	chr1:165652400-165667000	Weak transcription	Pancreas	Pancrea
23	chr1:165652400-165667000	Weak transcription	Spleen	Spleen
24	chr1:165652600-165666000	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:165652800-165665400	Weak transcription	NHLF	lung
26	chr1:165652800-165666200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:165653000-165666000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:165653800-165665200	Weak transcription	NHEK	skin
29	chr1:165653800-165666000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:165655200-165666000	Weak transcription	Brain Anterior Caudate	brain
31	chr1:165655600-165666800	Weak transcription	Aorta	Aorta
32	chr1:165655600-165666800	Weak transcription	Right Ventricle	heart
33	chr1:165656000-165666800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:165656400-165665400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:165656600-165665200	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:165656600-165665400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:165656600-165665400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:165656600-165666000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:165656800-165665000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:165656800-165665200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:165657000-165665200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:165657600-165665000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:165657600-165665400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:165658000-165665800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:165658000-165666000	Weak transcription	Left Ventricle	heart
46	chr1:165658000-165666200	Weak transcription	Placenta	Placenta
47	chr1:165658400-165665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:165658800-165665000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:165658800-165665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:165658800-165665200	Weak transcription	Hela-S3	cervix

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