Variant report

Variant	rs10145565
Chromosome Location	chr14:69543224-69543225
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: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1007407	0.82[JPT][hapmap]
rs10083451	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]
rs10130013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10131077	0.81[EUR][1000 genomes]
rs10132533	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs10134578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10135102	0.81[AMR][1000 genomes]
rs10135127	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10135643	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10135971	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10139873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141040	0.81[EUR][1000 genomes]
rs10143302	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];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10146649	0.94[EUR][1000 genomes]
rs10147369	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];0.81[EUR][1000 genomes]
rs10148614	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10151376	0.91[EUR][1000 genomes]
rs11158780	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158790	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158795	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]
rs11158798	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11622889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12323738	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12431846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12437418	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12589028	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[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];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1275415	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs12879406	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs12881049	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12885977	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12886715	0.91[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12889849	0.92[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12891103	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17093668	0.85[JPT][hapmap]
rs1892296	0.93[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1914004	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1973677	0.82[EUR][1000 genomes]
rs2001998	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[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];0.98[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];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2268968	0.85[JPT][hapmap]
rs2300875	0.82[JPT][hapmap]
rs2331918	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2331919	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28613298	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3211166	0.87[CEU][hapmap];0.89[CHB][hapmap];0.92[MEX][hapmap]
rs35538328	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4338726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899280	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902682	0.85[JPT][hapmap]
rs6573869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573872	0.80[AMR][1000 genomes]
rs7144307	0.88[CEU][hapmap]
rs7148045	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs7160629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8005658	0.82[AMR][1000 genomes]
rs8008184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015876	0.85[JPT][hapmap]
rs8017103	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323522	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9323524	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];0.87[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
rs10145565	SPTB	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
2	chr14:69519200-69544600	Weak transcription	Stomach Mucosa	stomach
3	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:69522600-69545600	Weak transcription	Pancreas	Pancrea
7	chr14:69523600-69545600	Weak transcription	Right Ventricle	heart
8	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
10	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
13	chr14:69526800-69545600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
15	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
16	chr14:69528600-69545400	Weak transcription	Gastric	stomach
17	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
20	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:69529600-69544600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:69529600-69545800	Weak transcription	Small Intestine	intestine
24	chr14:69534800-69544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69534800-69544800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:69535200-69544000	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:69535400-69544000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr14:69536000-69553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:69536200-69543800	Weak transcription	HMEC	breast
31	chr14:69536200-69544000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:69536200-69544200	Weak transcription	A549	lung
33	chr14:69536200-69556400	Weak transcription	K562	blood
34	chr14:69536400-69543600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:69536400-69543600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:69536400-69543600	Weak transcription	HUVEC	blood vessel
37	chr14:69536400-69545200	Weak transcription	Aorta	Aorta
38	chr14:69536600-69543800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:69536600-69544000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:69536600-69544200	Weak transcription	NHLF	lung
41	chr14:69536600-69545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:69537400-69544000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:69537600-69544000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:69537800-69544000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:69538000-69544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:69538400-69544800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:69539200-69543600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:69539600-69543800	Strong transcription	Dnd41	blood
49	chr14:69539600-69544600	Strong transcription	Liver	Liver
50	chr14:69540000-69551400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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