Variant report

Variant	rs17106532
Chromosome Location	chr14:78350462-78350463
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	chr14:78348937..78352037-chr14:78352512..78354999,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10145976	0.81[CHD][hapmap]
rs10151830	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10483887	1.00[CHB][hapmap]
rs11628161	1.00[CHB][hapmap]
rs12433276	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs12433306	1.00[CHB][hapmap]
rs17106419	1.00[CHB][hapmap]
rs17106425	1.00[CHB][hapmap]
rs17106489	1.00[CHB][hapmap]
rs17106503	1.00[CHB][hapmap]
rs17106513	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs17106514	1.00[CHB][hapmap]
rs17106518	1.00[CHB][hapmap]
rs17106522	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106524	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17106537	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17106552	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17106556	1.00[CHB][hapmap]
rs17106561	1.00[CHB][hapmap]
rs17106579	1.00[CHB][hapmap]
rs17106585	1.00[CHB][hapmap]
rs2287647	1.00[CHB][hapmap]
rs2287649	1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs2364740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs35636358	0.83[AFR][1000 genomes]
rs3783956	1.00[CHB][hapmap]
rs3783963	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783965	1.00[CHB][hapmap]
rs3783975	1.00[CHB][hapmap]
rs3825689	1.00[ASN][1000 genomes]
rs3825690	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239817	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156202	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs874024	1.00[CHB][hapmap]
rs874434	1.00[CHB][hapmap];0.81[CHD][hapmap]

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
rs17106532	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:75 , 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	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
7	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
8	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
11	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
12	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:78340600-78353600	Weak transcription	Dnd41	blood
19	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
20	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
21	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
22	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
23	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:78345000-78353600	Weak transcription	Liver	Liver
25	chr14:78345400-78350800	Enhancers	Left Ventricle	heart
26	chr14:78346400-78352800	Weak transcription	Primary T cells from cord blood	blood
27	chr14:78346600-78353400	Weak transcription	Ovary	ovary
28	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:78346800-78353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:78347200-78352400	Weak transcription	Gastric	stomach
31	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
32	chr14:78347400-78353600	Weak transcription	Pancreas	Pancrea
33	chr14:78347600-78350600	Enhancers	Brain Anterior Caudate	brain
34	chr14:78347800-78353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:78348200-78350600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:78348200-78350600	Enhancers	Fetal Muscle Leg	muscle
38	chr14:78348200-78350800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:78348200-78350800	Enhancers	Brain Angular Gyrus	brain
40	chr14:78348200-78350800	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:78348200-78350800	Enhancers	Brain Hippocampus Middle	brain
42	chr14:78348200-78350800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:78348200-78350800	Enhancers	Right Ventricle	heart
44	chr14:78348400-78350600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:78348400-78350800	Enhancers	Adipose Nuclei	Adipose
46	chr14:78348400-78351000	Enhancers	Brain Substantia Nigra	brain
47	chr14:78348600-78350600	Enhancers	NHDF-Ad	bronchial
48	chr14:78348600-78350800	Enhancers	Fetal Muscle Trunk	muscle
49	chr14:78348800-78350800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:78348800-78350800	Enhancers	Pancreatic Islets	Pancreatic Islet

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