Variant report

Variant	rs12050416
Chromosome Location	chr14:81385568-81385569
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81383115..81385804-chr14:81388822..81391574,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10133034	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs10135084	0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10141970	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs10142753	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs10149689	0.81[CEU][hapmap]
rs1016699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1038523	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11623416	0.89[YRI][hapmap]
rs11625199	0.83[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs11627934	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1197467	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1197473	0.86[EUR][1000 genomes]
rs1197474	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12050077	0.81[CEU][hapmap]
rs12050151	0.94[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs12050278	0.81[CEU][hapmap]
rs12050342	0.88[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs12433134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434318	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437260	0.83[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12892825	0.89[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12895801	0.81[YRI][hapmap]
rs12896436	0.86[JPT][hapmap]
rs162171	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs162174	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162178	0.81[CHB][hapmap]
rs170595	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs170596	0.83[CHB][hapmap];0.93[JPT][hapmap]
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]
rs17111270	0.82[YRI][hapmap]
rs17615020	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs1797671	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1863765	0.84[ASN][1000 genomes]
rs1863766	0.83[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
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]
rs2114703	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2114705	0.81[CEU][hapmap]
rs2162547	0.86[JPT][hapmap]
rs2162548	0.84[AFR][1000 genomes]
rs2195103	0.81[CEU][hapmap]
rs2217177	0.81[CEU][hapmap]
rs2217178	0.81[CEU][hapmap]
rs2268451	0.84[CEU][hapmap]
rs2268458	0.80[JPT][hapmap]
rs2268460	0.80[JPT][hapmap]
rs228109	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228119	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs228122	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs228124	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2284720	0.80[JPT][hapmap]
rs2284722	0.87[JPT][hapmap]
rs2288347	0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs2371421	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2371456	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2556604	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556607	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556611	0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs2556613	0.84[ASN][1000 genomes]
rs2556615	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619661	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28850656	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]
rs2888032	0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2888046	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs327423	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327424	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327426	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327428	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327429	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs327431	0.83[EUR][1000 genomes]
rs327434	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][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	0.84[CEU][hapmap];0.84[ASN][1000 genomes]
rs327452	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327454	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327457	0.85[CHB][hapmap]
rs327462	0.87[CHB][hapmap]
rs327463	0.87[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs327464	0.81[GIH][hapmap]
rs327467	0.87[CHB][hapmap]
rs327470	0.87[CHB][hapmap]
rs327472	0.87[CHB][hapmap]
rs328206	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes]
rs328212	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes]
rs328213	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs328258	0.87[CHB][hapmap]
rs3742721	0.89[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3742722	0.89[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3783951	0.80[JPT][hapmap]
rs4016442	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4899779	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899781	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4903944	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903947	0.87[ASN][1000 genomes]
rs4903949	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4903957	0.80[JPT][hapmap]
rs4903958	0.80[JPT][hapmap]
rs5002906	0.87[JPT][hapmap]
rs6574606	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6574608	0.83[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6574609	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6574610	0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs6574611	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140452	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143744	0.83[AFR][1000 genomes]
rs7147306	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156306	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7156572	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7157845	0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7158936	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7159065	0.92[YRI][hapmap]
rs722906	0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72693011	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72693013	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7493314	0.82[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs759918	0.85[ASN][1000 genomes]
rs759919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768359	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008366	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8009260	0.81[AFR][1000 genomes]
rs8009508	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010491	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011273	0.87[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs8016507	0.88[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8017038	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8017949	0.82[ASN][1000 genomes]
rs8022600	0.81[CEU][hapmap]
rs9323694	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9671671	0.86[EUR][1000 genomes];0.84[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
rs12050416	C14orf145	cis	parietal	SCAN
rs12050416	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
2	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:81359400-81406000	Weak transcription	A549	lung
7	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:81360200-81393800	Weak transcription	HMEC	breast
10	chr14:81362200-81392600	Weak transcription	NH-A	brain
11	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
15	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:81369400-81389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:81370400-81393600	Weak transcription	NHEK	skin
19	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
21	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
22	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:81375400-81407600	Weak transcription	Gastric	stomach
24	chr14:81375800-81392800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:81378800-81389200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:81379200-81392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:81380000-81392600	Weak transcription	Right Ventricle	heart
29	chr14:81380800-81389800	Weak transcription	Ovary	ovary
30	chr14:81380800-81392800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:81382000-81387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:81382600-81386000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:81382600-81386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:81382600-81386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:81382600-81387200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:81382600-81388400	Weak transcription	Brain Germinal Matrix	brain
37	chr14:81382600-81389800	Weak transcription	Fetal Brain Female	brain
38	chr14:81382600-81391800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:81382600-81392000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr14:81382600-81392400	Weak transcription	HSMM	muscle
41	chr14:81382600-81392600	Weak transcription	Left Ventricle	heart
42	chr14:81382600-81393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:81382800-81389200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:81382800-81391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
49	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum

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