Variant report

Variant	rs10143302
Chromosome Location	chr14:69537209-69537210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69535059..69538087-chr14:69542567..69545088,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	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]
rs10130013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131077	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132533	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135102	0.81[AMR][1000 genomes]
rs10135127	0.91[EUR][1000 genomes]
rs10135643	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135971	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141040	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10145565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10146649	0.93[EUR][1000 genomes]
rs10147369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148614	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151376	0.90[EUR][1000 genomes]
rs11158780	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[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];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158790	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158795	0.92[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs11158798	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11622889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12323738	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12431846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437418	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586650	0.83[GIH][hapmap]
rs12587583	0.83[GIH][hapmap]
rs12589028	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs1275415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12879406	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12881049	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12885977	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12886715	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12889849	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12891103	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12894822	0.83[GIH][hapmap]
rs1892296	0.92[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1914004	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973677	0.81[EUR][1000 genomes]
rs2001998	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2331919	0.87[AMR][1000 genomes];0.82[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];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3211166	0.87[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]
rs35538328	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4338726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899280	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573872	0.80[AMR][1000 genomes]
rs7144307	0.88[CEU][hapmap];0.91[GIH][hapmap]
rs7148045	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7160629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005658	0.82[AMR][1000 genomes]
rs8008184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017103	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323522	0.82[AMR][1000 genomes];0.82[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];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.80[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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10143302	SPTB	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69516200-69541800	Strong transcription	Primary T cells from cord blood	blood
2	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
3	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
4	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:69521000-69540600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:69522200-69539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
10	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
11	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
16	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
18	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
19	chr14:69528200-69539600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:69528600-69539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:69528600-69540200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:69528600-69545400	Weak transcription	Gastric	stomach
23	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
26	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:69529200-69538600	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:69529200-69539200	Weak transcription	Lung	lung
30	chr14:69529200-69539400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:69529200-69539400	Weak transcription	Brain Anterior Caudate	brain
32	chr14:69529200-69539400	Weak transcription	Brain Substantia Nigra	brain
33	chr14:69529200-69539600	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:69529200-69539600	Weak transcription	Fetal Brain Female	brain
35	chr14:69529200-69540000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:69529200-69541200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:69529400-69540200	Weak transcription	Colonic Mucosa	Colon
38	chr14:69529600-69544600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:69529600-69545800	Weak transcription	Small Intestine	intestine
40	chr14:69529800-69537600	Weak transcription	Left Ventricle	heart
41	chr14:69529800-69540000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:69530000-69539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:69530400-69539400	Weak transcription	Thymus	Thymus
44	chr14:69530600-69539800	Weak transcription	Fetal Heart	heart
45	chr14:69530600-69540600	Weak transcription	Fetal Kidney	kidney
46	chr14:69530800-69540600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:69531600-69539400	Weak transcription	Ovary	ovary
48	chr14:69531800-69538000	Weak transcription	HepG2	liver
49	chr14:69532200-69539600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr14:69534600-69538400	Strong transcription	Liver	Liver

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