Variant report

Variant	rs56239817
Chromosome Location	chr14:78343118-78343119
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78336910..78339002-chr14:78342253..78344506,3	K562	blood:
2	chr14:78337502..78339743-chr14:78343006..78345353,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10151830	0.92[ASN][1000 genomes]
rs17106513	0.96[ASN][1000 genomes]
rs17106522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17106532	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287649	0.82[AFR][1000 genomes]
rs2364740	0.92[ASN][1000 genomes]
rs35636358	0.81[AFR][1000 genomes]
rs3783963	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825689	0.96[ASN][1000 genomes]
rs3825690	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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
rs56239817	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
3	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
6	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
10	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
11	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
13	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:78329000-78345000	Weak transcription	Brain Substantia Nigra	brain
15	chr14:78329000-78345800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
17	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:78329200-78345400	Weak transcription	Right Ventricle	heart
19	chr14:78329400-78345200	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
24	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
25	chr14:78337200-78345400	Weak transcription	Left Ventricle	heart
26	chr14:78339000-78345400	Weak transcription	K562	blood
27	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:78340600-78348200	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:78340600-78353600	Weak transcription	Dnd41	blood
35	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
36	chr14:78341000-78344800	Weak transcription	Pancreas	Pancrea
37	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:78341400-78344800	Weak transcription	Gastric	stomach
39	chr14:78341800-78343200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr14:78342200-78344600	Weak transcription	Liver	Liver
41	chr14:78342200-78346400	Strong transcription	Primary T cells from cord blood	blood
42	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
43	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
44	chr14:78342400-78345600	Weak transcription	Fetal Heart	heart
45	chr14:78342600-78346400	Weak transcription	Ovary	ovary
46	chr14:78342600-78348200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
48	chr14:78342800-78345400	Weak transcription	Adipose Nuclei	Adipose
49	chr14:78342800-78346000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:78342800-78348200	Weak transcription	Stomach Smooth Muscle	stomach

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