Variant report

Variant	rs28850656
Chromosome Location	chr14:81350606-81350607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10133034	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10135084	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10137041	0.86[ASN][1000 genomes]
rs10141970	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs10142753	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10144692	0.86[ASN][1000 genomes]
rs1016699	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1038523	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11625199	0.83[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs11627934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1197467	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1197473	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1197474	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12050151	0.94[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs12050342	0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs12050416	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12433134	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12434318	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437260	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12896436	0.86[JPT][hapmap]
rs162171	0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs162174	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs162178	0.81[CHB][hapmap]
rs170595	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170596	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs17111237	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs17111246	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs17111256	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs17615020	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1797671	0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1863765	0.90[ASN][1000 genomes]
rs1863766	0.83[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2010847	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2059719	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2110696	0.87[JPT][hapmap]
rs2162547	0.86[JPT][hapmap]
rs2268458	0.80[JPT][hapmap]
rs2268460	0.80[JPT][hapmap]
rs228109	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs228122	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs228124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs228126	0.86[ASN][1000 genomes]
rs228128	0.86[ASN][1000 genomes]
rs2284720	0.80[JPT][hapmap]
rs2284722	0.87[JPT][hapmap]
rs2288347	0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2371420	0.85[ASN][1000 genomes]
rs2371421	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371456	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556603	0.86[ASN][1000 genomes]
rs2556604	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556606	0.86[ASN][1000 genomes]
rs2556607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2556608	0.86[ASN][1000 genomes]
rs2556610	0.86[ASN][1000 genomes]
rs2556611	0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2556612	0.82[ASN][1000 genomes]
rs2556613	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2556614	0.84[ASN][1000 genomes]
rs2556615	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619661	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2888032	0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs327423	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327424	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327426	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327428	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327429	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327431	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs327434	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs327435	0.87[CHB][hapmap];0.90[CHD][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap]
rs327440	0.87[CHB][hapmap]
rs327442	0.87[CHB][hapmap];0.90[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs327443	0.81[CHB][hapmap]
rs327446	0.87[CHB][hapmap];0.90[CHD][hapmap];0.81[TSI][hapmap]
rs327451	0.88[CEU][hapmap];0.89[ASN][1000 genomes]
rs327452	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs327454	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327457	0.85[CHB][hapmap]
rs327462	0.87[CHB][hapmap]
rs327463	0.87[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs327464	0.88[GIH][hapmap]
rs327465	0.84[GIH][hapmap]
rs327467	0.87[CHB][hapmap]
rs327470	0.87[CHB][hapmap]
rs327472	0.87[CHB][hapmap]
rs328206	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs328212	0.96[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs328213	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs328239	0.82[GIH][hapmap]
rs328258	0.87[CHB][hapmap]
rs3783951	0.80[JPT][hapmap]
rs4016442	0.84[ASN][1000 genomes]
rs4899779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899780	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899781	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903943	0.86[ASN][1000 genomes]
rs4903944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903945	0.84[ASN][1000 genomes]
rs4903946	0.86[ASN][1000 genomes]
rs4903947	0.81[ASN][1000 genomes]
rs4903949	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs4903957	0.80[JPT][hapmap]
rs4903958	0.80[JPT][hapmap]
rs5002906	0.87[JPT][hapmap]
rs58625998	0.85[ASN][1000 genomes]
rs58699962	0.86[ASN][1000 genomes]
rs6574606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574608	0.83[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6574609	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574610	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6574611	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7140452	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147306	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156306	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156572	0.83[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157845	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7158936	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722906	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs72693011	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72693013	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7493314	0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs759918	0.81[ASN][1000 genomes]
rs759919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs768359	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008366	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8009508	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8010491	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011273	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs8016507	0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs8017038	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017949	0.84[ASN][1000 genomes]
rs9323694	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9671671	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28850656	C14orf145	cis	parietal	SCAN
rs28850656	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:46 , 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	chr14:81336600-81358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:81337200-81357400	Weak transcription	Primary T cells from cord blood	blood
5	chr14:81338800-81353800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:81339600-81351600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:81339600-81359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:81340000-81354400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr14:81341800-81350800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:81342800-81350800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:81342800-81352400	Weak transcription	Right Ventricle	heart
12	chr14:81343800-81350800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:81344400-81357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:81344600-81353200	Weak transcription	Fetal Stomach	stomach
15	chr14:81345000-81350800	Weak transcription	Pancreas	Pancrea
16	chr14:81345200-81350800	Weak transcription	Esophagus	oesophagus
17	chr14:81345200-81353200	Weak transcription	Ovary	ovary
18	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
19	chr14:81345400-81350800	Weak transcription	Lung	lung
20	chr14:81345400-81350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:81345400-81351200	Weak transcription	Spleen	Spleen
22	chr14:81345400-81355800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:81345400-81356200	Weak transcription	Primary B cells from cord blood	blood
24	chr14:81345600-81350800	Weak transcription	Thymus	Thymus
25	chr14:81346600-81358200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:81347200-81358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:81348200-81369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:81348400-81350800	Weak transcription	Adipose Nuclei	Adipose
29	chr14:81348400-81352800	Weak transcription	Liver	Liver
30	chr14:81348400-81355000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:81348400-81357200	Weak transcription	A549	lung
32	chr14:81348800-81353200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:81349200-81350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:81349200-81352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:81349200-81356200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:81349200-81357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:81349800-81374800	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:81350000-81351600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:81350000-81352200	Strong transcription	Fetal Thymus	thymus
40	chr14:81350400-81350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:81350400-81351200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:81350400-81352000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:81350400-81355400	Weak transcription	Dnd41	blood
44	chr14:81350600-81351800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:81350600-81351800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr14:81350600-81352400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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