Variant report

Variant	rs10130013
Chromosome Location	chr14:69563295-69563296
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	chr14:69558940..69562138-chr14:69562200..69566674,5	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	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	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132533	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135102	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10135127	0.90[EUR][1000 genomes]
rs10135643	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10135971	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139873	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];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10141040	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10143302	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]
rs10143769	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10145565	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]
rs10146339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10146649	0.91[EUR][1000 genomes]
rs10147119	0.80[EUR][1000 genomes]
rs10147369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148614	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151376	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11158780	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158782	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];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158787	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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158790	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];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158792	0.82[EUR][1000 genomes]
rs11158795	0.92[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[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];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12323738	0.90[EUR][1000 genomes]
rs12431846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435594	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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437418	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586650	0.83[GIH][hapmap]
rs12587583	0.83[GIH][hapmap]
rs12589028	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];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275407	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs1275415	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12879406	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12881049	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12885977	0.82[AMR][1000 genomes];0.90[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	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12894822	0.83[GIH][hapmap]
rs17106754	0.83[CHD][hapmap]
rs1892296	0.82[AMR][1000 genomes];0.90[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];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001998	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];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	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];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2139540	0.80[AMR][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2331919	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28613298	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];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3211166	0.87[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap]
rs35538328	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4143922	0.83[CHD][hapmap]
rs4338726	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899280	1.00[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61980267	0.80[AMR][1000 genomes]
rs6573869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573872	0.82[EUR][1000 genomes]
rs7144307	0.88[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap]
rs7148045	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7160629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8005658	0.81[AMR][1000 genomes]
rs8008184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008735	0.83[CHD][hapmap]
rs8017103	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323522	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9323524	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10130013	WDR22	Cis_1M	lymphoblastoid	RTeQTL
rs10130013	SPTB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
4	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
5	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:69550000-69568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:69558200-69563600	Weak transcription	Fetal Brain Male	brain
9	chr14:69558600-69564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:69558600-69569600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr14:69558600-69570400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:69558600-69572000	Weak transcription	Brain Germinal Matrix	brain
13	chr14:69558600-69578600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:69558800-69564400	Weak transcription	Thymus	Thymus
15	chr14:69558800-69565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:69558800-69567800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:69558800-69569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:69558800-69569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:69558800-69570000	Weak transcription	Fetal Brain Female	brain
20	chr14:69558800-69572000	Weak transcription	Esophagus	oesophagus
21	chr14:69558800-69572000	Weak transcription	Spleen	Spleen
22	chr14:69558800-69581600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:69558800-69582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:69558800-69595800	Weak transcription	Hela-S3	cervix
25	chr14:69559000-69564200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:69559000-69566200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:69559000-69569600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:69559000-69583800	Weak transcription	Colonic Mucosa	Colon
29	chr14:69559200-69567800	Weak transcription	Liver	Liver
30	chr14:69559200-69569400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:69559400-69564000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:69559600-69564000	Enhancers	HepG2	liver
33	chr14:69559800-69564600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr14:69560000-69564000	Enhancers	Brain Hippocampus Middle	brain
35	chr14:69560000-69565200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr14:69560400-69589400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:69560600-69565000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:69560600-69565200	Strong transcription	Primary B cells from cord blood	blood
39	chr14:69560600-69575000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:69560800-69564600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr14:69561000-69563400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:69561000-69565200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:69561200-69563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:69561200-69564400	Weak transcription	Right Ventricle	heart
45	chr14:69561200-69564600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:69561200-69567800	Weak transcription	Fetal Intestine Small	intestine
47	chr14:69561200-69568400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:69561200-69569600	Weak transcription	GM12878-XiMat	blood
49	chr14:69561200-69572000	Weak transcription	Gastric	stomach
50	chr14:69561200-69577200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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