Variant report

Variant	rs17825983
Chromosome Location	chr14:78313180-78313181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1010073	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150472	0.80[EUR][1000 genomes]
rs17106507	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17752428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17752707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17752869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17752882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17752974	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753231	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753249	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17825834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17826206	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287651	0.82[EUR][1000 genomes]
rs2364	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783959	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783967	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522354	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45610535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs724264	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313116	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17825983	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
3	chr14:78297600-78324000	Weak transcription	Ovary	ovary
4	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
5	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:78301400-78325200	Weak transcription	Gastric	stomach
11	chr14:78301400-78325400	Weak transcription	Lung	lung
12	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
14	chr14:78302200-78331000	Weak transcription	Liver	Liver
15	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
20	chr14:78306600-78330400	Weak transcription	Dnd41	blood
21	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
25	chr14:78311800-78316600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:78313000-78313400	Strong transcription	Stomach Smooth Muscle	stomach

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