Variant report

Variant	rs2080815
Chromosome Location	chr14:78310659-78310660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10130790	0.84[CHB][hapmap]
rs10873312	0.94[ASN][1000 genomes]
rs1107991	0.87[CHB][hapmap]
rs11159290	0.87[CHB][hapmap]
rs11159291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11159294	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs11159298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159299	0.92[ASN][1000 genomes]
rs11159300	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159301	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159302	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159303	0.91[ASN][1000 genomes]
rs11159305	0.91[ASN][1000 genomes]
rs11159306	0.84[CHB][hapmap]
rs11621642	0.93[ASN][1000 genomes]
rs11622297	0.96[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs11625833	0.87[ASN][1000 genomes]
rs11626480	0.93[ASN][1000 genomes]
rs11628049	0.87[CHB][hapmap]
rs11629157	0.89[ASN][1000 genomes]
rs12587361	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs12878904	0.96[CHB][hapmap];0.86[ASN][1000 genomes]
rs12879726	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs12879890	0.84[ASN][1000 genomes]
rs12884153	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs12891444	0.93[ASN][1000 genomes]
rs12891769	0.93[ASN][1000 genomes]
rs12893815	0.84[CHB][hapmap]
rs12894510	0.87[ASN][1000 genomes]
rs12897885	0.93[ASN][1000 genomes]
rs17826188	0.87[ASN][1000 genomes]
rs2003600	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs2013130	0.91[ASN][1000 genomes]
rs2017927	0.80[CHB][hapmap]
rs2052444	0.87[CHB][hapmap]
rs2080816	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2080817	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs2080818	0.92[ASN][1000 genomes]
rs2098584	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2287648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2287650	0.87[CHB][hapmap]
rs2364743	1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2364842	0.91[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs2886166	0.82[ASN][1000 genomes]
rs2886167	0.87[CHB][hapmap]
rs2886168	0.87[CHB][hapmap]
rs3783962	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs3783966	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs3783968	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs3783969	0.96[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs3783970	0.92[ASN][1000 genomes]
rs3783972	0.91[ASN][1000 genomes]
rs3783974	0.84[CHB][hapmap]
rs3825691	0.84[CHB][hapmap]
rs4359362	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs4371094	0.84[CHB][hapmap]
rs4393507	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs4411442	0.92[ASN][1000 genomes]
rs4899677	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4899678	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4899679	0.80[CHB][hapmap]
rs4903650	0.94[ASN][1000 genomes]
rs4903652	0.94[ASN][1000 genomes]
rs4903653	0.94[ASN][1000 genomes]
rs4903654	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs4903656	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs4903657	0.92[ASN][1000 genomes]
rs4903658	1.00[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4903660	0.84[CHB][hapmap]
rs4903661	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs4903662	0.84[CHB][hapmap]
rs4903663	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4903664	0.84[CHB][hapmap]
rs4903666	0.88[CHB][hapmap]
rs4903667	0.90[CHB][hapmap]
rs7145309	0.87[CHB][hapmap]
rs7145567	0.87[CHB][hapmap]
rs7147735	0.87[CHB][hapmap]
rs7149884	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs719049	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs724263	0.84[CHB][hapmap]
rs726538	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs734654	0.87[CHB][hapmap]
rs7401295	0.94[ASN][1000 genomes]
rs741573	1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs741574	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs741575	0.87[CHB][hapmap]
rs7493235	0.84[ASN][1000 genomes]
rs7493386	0.90[CHB][hapmap]
rs7494718	0.92[ASN][1000 genomes]
rs8014296	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8018674	0.87[CHB][hapmap]
rs8019539	0.83[CHB][hapmap]
rs8020016	0.93[ASN][1000 genomes]
rs874025	0.84[CHB][hapmap]
rs877561	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs9323653	0.86[ASN][1000 genomes]
rs962539	0.96[CHB][hapmap]
rs962540	0.92[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
rs2080815	ADCK1	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
2	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
4	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
7	chr14:78297600-78311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:78297600-78324000	Weak transcription	Ovary	ovary
9	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
10	chr14:78297800-78311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:78297800-78311200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:78298200-78311000	Weak transcription	Fetal Intestine Large	intestine
14	chr14:78298200-78311200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:78301400-78315400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:78301400-78325200	Weak transcription	Gastric	stomach
20	chr14:78301400-78325400	Weak transcription	Lung	lung
21	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
23	chr14:78302200-78331000	Weak transcription	Liver	Liver
24	chr14:78303000-78311200	Weak transcription	Adipose Nuclei	Adipose
25	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
30	chr14:78306600-78330400	Weak transcription	Dnd41	blood
31	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
32	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:78310400-78311000	Strong transcription	Fetal Stomach	stomach
34	chr14:78310400-78313000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:78310600-78311600	Strong transcription	Primary T cells from cord blood	blood

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