Variant report

Variant	rs10151830
Chromosome Location	chr14:78311319-78311320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10145976	0.93[CHD][hapmap];0.82[GIH][hapmap];0.81[ASN][1000 genomes]
rs10483887	1.00[CHB][hapmap]
rs11628161	1.00[CHB][hapmap]
rs12433276	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs12433306	1.00[CHB][hapmap]
rs17106419	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17106425	1.00[CHB][hapmap]
rs17106489	1.00[CHB][hapmap]
rs17106503	1.00[CHB][hapmap]
rs17106513	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17106514	1.00[CHB][hapmap]
rs17106518	1.00[CHB][hapmap]
rs17106522	0.96[ASN][1000 genomes]
rs17106524	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs17106532	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17106537	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs17106552	1.00[CHB][hapmap];0.93[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];0.86[CHD][hapmap]
rs2287649	1.00[CHB][hapmap]
rs2364740	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3783956	1.00[CHB][hapmap]
rs3783963	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3783965	1.00[CHB][hapmap]
rs3783975	1.00[CHB][hapmap]
rs3825689	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3825690	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs56239817	0.92[ASN][1000 genomes]
rs7156202	0.84[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs874024	1.00[CHB][hapmap]
rs874434	1.00[CHB][hapmap];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10151830	ADCK1	cis	lymphoblastoid	seeQTL
rs10151830	ADCK1	cis	parietal	SCAN

Chromatin state (count:33 , 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	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
5	chr14:78297600-78324000	Weak transcription	Ovary	ovary
6	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
7	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:78301400-78325200	Weak transcription	Gastric	stomach
13	chr14:78301400-78325400	Weak transcription	Lung	lung
14	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
16	chr14:78302200-78331000	Weak transcription	Liver	Liver
17	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
22	chr14:78306600-78330400	Weak transcription	Dnd41	blood
23	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:78310400-78313000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:78310600-78311600	Strong transcription	Primary T cells from cord blood	blood
28	chr14:78311000-78311800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:78311000-78313000	Weak transcription	Fetal Stomach	stomach
30	chr14:78311200-78311600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:78311200-78311600	Enhancers	Adipose Nuclei	Adipose
32	chr14:78311200-78311600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:78311200-78311800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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