Variant report

Variant	rs1863766
Chromosome Location	chr14:81345416-81345417
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10133034	0.86[JPT][hapmap]
rs10135084	0.91[GIH][hapmap];0.86[JPT][hapmap]
rs10137041	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016699	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1038523	0.87[JPT][hapmap]
rs11625199	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627934	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1197467	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1197474	0.87[JPT][hapmap]
rs12050151	0.81[JPT][hapmap]
rs12050342	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050416	0.83[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs12433134	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12434318	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12437260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896436	0.81[JPT][hapmap]
rs162171	0.89[GIH][hapmap];0.87[JPT][hapmap]
rs162174	0.82[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap]
rs170595	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs170596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111237	0.81[JPT][hapmap]
rs17111246	0.81[JPT][hapmap]
rs17111256	0.81[JPT][hapmap]
rs17615020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797671	0.82[ASN][1000 genomes]
rs1863765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2010847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2059719	0.81[JPT][hapmap]
rs2110696	0.81[JPT][hapmap]
rs2162547	0.81[JPT][hapmap]
rs228119	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs228122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228124	0.84[ASN][1000 genomes]
rs228126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284722	0.81[JPT][hapmap]
rs2288347	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371420	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371421	0.84[ASN][1000 genomes]
rs2556603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556604	0.84[ASN][1000 genomes]
rs2556606	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556607	0.83[CHB][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2556608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556612	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2556614	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556615	0.86[ASN][1000 genomes]
rs2619661	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs28850656	0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2888032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327423	0.87[JPT][hapmap]
rs327424	0.87[JPT][hapmap]
rs327428	0.87[JPT][hapmap]
rs327429	0.87[JPT][hapmap]
rs327434	0.82[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap]
rs327439	0.89[CHB][hapmap]
rs327452	0.87[JPT][hapmap]
rs327454	0.87[JPT][hapmap]
rs327463	0.86[GIH][hapmap]
rs327464	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[GIH][hapmap]
rs327465	0.89[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap]
rs327477	0.89[CHB][hapmap]
rs328206	0.87[JPT][hapmap]
rs328212	0.87[JPT][hapmap]
rs328213	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap]
rs328239	0.89[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.82[MEX][hapmap]
rs4016442	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899779	0.86[ASN][1000 genomes]
rs4899780	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs4903943	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903944	0.86[ASN][1000 genomes]
rs4903945	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903946	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903949	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5002906	0.81[JPT][hapmap]
rs58699962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574606	0.86[ASN][1000 genomes]
rs6574608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574609	0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6574610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140452	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7147306	0.83[ASN][1000 genomes]
rs7150858	0.90[YRI][hapmap]
rs7156306	0.86[ASN][1000 genomes]
rs7156572	0.82[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap]
rs7157845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7158936	0.82[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs722906	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72693013	0.82[ASN][1000 genomes]
rs7493314	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759918	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs759919	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs768359	0.83[CHB][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs8008366	0.87[JPT][hapmap]
rs8010491	0.83[ASN][1000 genomes]
rs8011273	0.84[GIH][hapmap]
rs8016507	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016601	0.83[CEU][hapmap]
rs8017949	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323694	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1863766	C14orf145	cis	parietal	SCAN
rs1863766	POMT2	cis	cerebellum	SCAN
rs1863766	C14orf145	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81329200-81359400	Weak transcription	HSMM	muscle
3	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
7	chr14:81337800-81348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81338000-81346200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:81338200-81348000	Weak transcription	Liver	Liver
10	chr14:81338400-81350600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:81338800-81347600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:81339400-81346800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:81339600-81348000	Weak transcription	Adipose Nuclei	Adipose
15	chr14:81339600-81348000	Weak transcription	Hela-S3	cervix
16	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:81340000-81348800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:81340400-81346800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:81341800-81350800	Weak transcription	Fetal Intestine Small	intestine
22	chr14:81342800-81350800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:81342800-81352400	Weak transcription	Right Ventricle	heart
24	chr14:81343600-81346000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:81343600-81348000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:81343800-81350800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:81344000-81345600	Strong transcription	Fetal Thymus	thymus
28	chr14:81344000-81345600	Strong transcription	Thymus	Thymus
29	chr14:81344000-81345800	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:81344000-81346000	Strong transcription	Dnd41	blood
31	chr14:81344200-81345600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:81344200-81347400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:81344400-81345600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:81344600-81353200	Weak transcription	Fetal Stomach	stomach
36	chr14:81345000-81350800	Weak transcription	Pancreas	Pancrea
37	chr14:81345200-81347000	Weak transcription	NHEK	skin
38	chr14:81345200-81347600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:81345200-81347600	Weak transcription	A549	lung
40	chr14:81345200-81350800	Weak transcription	Esophagus	oesophagus
41	chr14:81345200-81353200	Weak transcription	Ovary	ovary
42	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
43	chr14:81345400-81347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:81345400-81348800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:81345400-81348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:81345400-81350800	Weak transcription	Lung	lung
47	chr14:81345400-81350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:81345400-81351200	Weak transcription	Spleen	Spleen
49	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood

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