Variant report

Variant	rs10083451
Chromosome Location	chr14:69579619-69579620
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1007407	0.82[JPT][hapmap]
rs10130013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10131077	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132533	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10134578	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10135102	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10135971	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10139873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141040	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10143302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143769	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10145565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147119	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10147369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148614	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158790	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158792	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11158795	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11158798	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs1147481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11622889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11625374	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12431846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12432970	0.85[JPT][hapmap]
rs12434478	0.85[JPT][hapmap]
rs12434775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12435594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586650	0.83[GIH][hapmap]
rs12587583	0.83[GIH][hapmap]
rs12589028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1275415	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12879406	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12886715	0.91[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs12889849	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs12890560	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12894822	0.83[GIH][hapmap]
rs17093668	0.85[JPT][hapmap]
rs1892297	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1914004	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2001998	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012764	0.82[JPT][hapmap]
rs2024892	0.84[JPT][hapmap]
rs2024893	0.85[JPT][hapmap]
rs2056153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139540	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268968	0.85[JPT][hapmap]
rs2300875	0.82[JPT][hapmap]
rs2331918	0.96[CEU][hapmap]
rs2331919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28613298	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3211166	0.87[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap]
rs34999390	0.81[EUR][1000 genomes]
rs4899280	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4902682	0.85[JPT][hapmap]
rs56008928	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61980267	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61980270	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61980284	0.82[EUR][1000 genomes]
rs6573869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573872	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423349	0.81[AMR][1000 genomes]
rs7144307	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs7148045	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs7160629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005658	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8008184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015876	0.85[JPT][hapmap]
rs9323522	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	esv3426846	chr14:69579495-69579742	Strong transcription Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10083451	SPTB	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
2	chr14:69558800-69581600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:69558800-69582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:69558800-69595800	Weak transcription	Hela-S3	cervix
5	chr14:69559000-69583800	Weak transcription	Colonic Mucosa	Colon
6	chr14:69560400-69589400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:69561200-69581600	Weak transcription	Aorta	Aorta
8	chr14:69561200-69581600	Weak transcription	Lung	lung
9	chr14:69561200-69581600	Weak transcription	Pancreas	Pancrea
10	chr14:69561200-69581600	Weak transcription	Small Intestine	intestine
11	chr14:69561400-69581600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69561600-69581600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:69561600-69581600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:69561800-69581600	Weak transcription	Fetal Heart	heart
15	chr14:69562000-69582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:69563400-69584600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:69563600-69581400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:69564000-69581400	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:69564000-69581800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:69564000-69584600	Weak transcription	Fetal Brain Male	brain
21	chr14:69565000-69584400	Weak transcription	Right Ventricle	heart
22	chr14:69565200-69580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:69565200-69581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:69565200-69582800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:69565200-69583800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:69565200-69584000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:69565200-69596200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:69565400-69582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:69566000-69583600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:69566600-69580800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:69568000-69583000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:69568400-69581600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:69568600-69586000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr14:69568600-69596000	Weak transcription	K562	blood
35	chr14:69568800-69595600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:69569400-69582800	Strong transcription	Fetal Thymus	thymus
37	chr14:69569600-69585600	Strong transcription	Liver	Liver
38	chr14:69569600-69589200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr14:69570400-69580200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:69570400-69581400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:69570800-69581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:69572000-69583800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:69572200-69581400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:69572400-69582200	Weak transcription	Brain Germinal Matrix	brain
45	chr14:69572600-69581200	Weak transcription	NHLF	lung
46	chr14:69572600-69581600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:69572600-69581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:69572600-69581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:69572600-69581600	Weak transcription	Esophagus	oesophagus
50	chr14:69572600-69581600	Weak transcription	Gastric	stomach

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