Variant report

Variant	rs11158780
Chromosome Location	chr14:69502145-69502146
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	chr14:69492929..69495607-chr14:69501759..69504340,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1007407	1.00[JPT][hapmap]
rs10083451	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs10130013	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10131077	0.81[ASN][1000 genomes]
rs10132533	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10134578	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135127	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135643	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10135971	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10139873	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs10141040	0.81[ASN][1000 genomes]
rs10143302	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10145565	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10146339	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10146649	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147369	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs10148614	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10149232	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10151376	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158782	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11158787	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158790	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs11158795	0.88[CEU][hapmap];0.89[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs11158798	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1147481	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11622889	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs11628126	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12323738	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12431846	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12434775	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435594	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[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]
rs12879406	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12881049	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885977	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12886715	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12889849	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12891103	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892296	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1892297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1914004	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1973677	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001998	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012764	1.00[JPT][hapmap]
rs2056153	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs2300875	1.00[JPT][hapmap]
rs2331918	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613298	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs35538328	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4338726	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899280	0.96[CEU][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573869	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7144307	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs7148045	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs7151797	0.87[AMR][1000 genomes]
rs7160629	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs761899	0.84[AMR][1000 genomes]
rs8008184	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs8017103	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323522	0.81[ASN][1000 genomes]
rs9323524	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]

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
rs11158780	SPTB	cis	cerebellum	SCAN
rs11158780	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
2	chr14:69486000-69503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69500800-69502400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:69501000-69502200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:69501000-69502400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69501000-69502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:69501000-69503000	Enhancers	HUVEC	blood vessel
8	chr14:69501000-69506600	Enhancers	Osteobl	bone
9	chr14:69501200-69502200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:69501200-69502200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69501200-69502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:69501200-69502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:69501200-69502600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:69501200-69502600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:69501200-69502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:69501200-69502600	Enhancers	NH-A	brain
17	chr14:69501400-69502200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:69501400-69502200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:69501400-69502400	Weak transcription	Aorta	Aorta
20	chr14:69501400-69505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:69501400-69505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:69501600-69502200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:69501600-69502400	Enhancers	HSMM	muscle
24	chr14:69501600-69502600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:69501600-69506200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:69501800-69502200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:69501800-69502600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:69501800-69502600	Enhancers	Fetal Kidney	kidney
29	chr14:69501800-69503800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:69501800-69504400	Weak transcription	NHLF	lung
31	chr14:69501800-69506000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:69502000-69502200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:69502000-69503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:69502000-69503600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:69502000-69503600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:69502000-69503600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:69502000-69503600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:69502000-69503800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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