Variant report

Variant	rs8013161
Chromosome Location	chr14:72021499-72021500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10135680	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10138557	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10139519	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs1029570	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10483836	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11848785	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12127	0.88[EUR][1000 genomes]
rs12433040	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12878989	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12879243	0.81[EUR][1000 genomes]
rs12880188	0.95[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12880291	0.88[EUR][1000 genomes]
rs12880611	0.82[EUR][1000 genomes]
rs12881957	0.82[EUR][1000 genomes]
rs12884929	0.80[EUR][1000 genomes]
rs12885344	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12887261	0.88[EUR][1000 genomes]
rs12889866	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs12891975	0.82[EUR][1000 genomes]
rs12892512	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12894016	0.81[EUR][1000 genomes]
rs12896900	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12896986	0.82[EUR][1000 genomes]
rs14030	0.88[EUR][1000 genomes]
rs17178206	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs17178234	0.82[EUR][1000 genomes]
rs17178387	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17767523	0.82[EUR][1000 genomes]
rs17767553	0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs17767680	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767686	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1859643	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1981588	0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2108049	0.82[EUR][1000 genomes]
rs2108057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2109276	0.82[EUR][1000 genomes]
rs2190240	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2214836	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2286136	0.82[CHD][hapmap]
rs2332638	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2332640	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2332641	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2877729	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs28859432	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs33994051	0.82[EUR][1000 genomes]
rs34061264	0.81[EUR][1000 genomes]
rs34169215	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34176710	0.80[EUR][1000 genomes]
rs34281405	0.80[EUR][1000 genomes]
rs34281934	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34320622	0.82[EUR][1000 genomes]
rs34347034	0.81[EUR][1000 genomes]
rs34388001	0.88[EUR][1000 genomes]
rs34454371	0.81[EUR][1000 genomes]
rs34469007	0.82[EUR][1000 genomes]
rs34480562	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34991781	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34993988	0.82[EUR][1000 genomes]
rs35231795	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35415083	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35589413	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35613269	0.82[EUR][1000 genomes]
rs35620527	0.88[EUR][1000 genomes]
rs35625243	0.86[EUR][1000 genomes]
rs35680546	0.80[EUR][1000 genomes]
rs35760654	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35831373	0.87[EUR][1000 genomes]
rs35866366	0.85[EUR][1000 genomes]
rs35971049	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36052007	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36072220	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36093218	0.80[EUR][1000 genomes]
rs3784062	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3784064	0.91[CEU][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3784066	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3825719	0.91[CEU][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4899398	0.91[CEU][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902938	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902941	0.89[EUR][1000 genomes]
rs55883127	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56180634	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56407721	0.82[EUR][1000 genomes]
rs61989367	0.82[EUR][1000 genomes]
rs61989373	0.82[EUR][1000 genomes]
rs61989374	0.82[EUR][1000 genomes]
rs61989377	0.81[EUR][1000 genomes]
rs61989379	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61989382	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61989383	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61989386	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61991213	0.82[EUR][1000 genomes]
rs61991243	0.85[EUR][1000 genomes]
rs61991246	0.84[EUR][1000 genomes]
rs61991249	0.85[EUR][1000 genomes]
rs61991255	0.82[EUR][1000 genomes]
rs6574015	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6574016	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66645707	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67489015	0.82[EUR][1000 genomes]
rs7140501	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7142343	0.91[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7144299	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7144829	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152674	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152842	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7154787	0.80[EUR][1000 genomes]
rs7154841	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156313	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157241	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs722633	0.82[EUR][1000 genomes]
rs725673	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs757850	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003478	0.83[EUR][1000 genomes]
rs8006300	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008605	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8010616	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8014349	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8015644	0.84[EUR][1000 genomes]
rs8017775	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8019721	0.85[EUR][1000 genomes]
rs9323561	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9672060	0.96[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8013161	MAP3K9	cis	cerebellum	SCAN
rs8013161	PCNX	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72006600-72021800	Weak transcription	Small Intestine	intestine
2	chr14:72007200-72021800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:72015200-72021800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:72015600-72023000	Weak transcription	Pancreas	Pancrea
5	chr14:72016000-72021800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:72017600-72021800	Weak transcription	K562	blood
7	chr14:72017800-72022800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:72018200-72022000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:72018400-72022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:72018400-72022600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:72018400-72022800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:72018600-72021800	Weak transcription	Fetal Thymus	thymus
14	chr14:72018600-72021800	Weak transcription	Spleen	Spleen
15	chr14:72018600-72022000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:72018600-72022400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:72018600-72022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:72018600-72022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:72018600-72022400	Weak transcription	NHLF	lung
20	chr14:72018800-72021800	Weak transcription	NHDF-Ad	bronchial
21	chr14:72018800-72022400	Weak transcription	NHEK	skin
22	chr14:72018800-72022800	Weak transcription	Fetal Heart	heart
23	chr14:72019000-72022200	Weak transcription	Osteobl	bone
24	chr14:72019000-72022400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:72019000-72022400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:72019000-72022800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:72019000-72023200	Weak transcription	HSMM	muscle
28	chr14:72019400-72021600	Enhancers	Primary T cells from cord blood	blood
29	chr14:72019400-72021600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:72019400-72023800	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:72019600-72021600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:72019600-72021800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:72019600-72021800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:72019600-72021800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:72019600-72021800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:72019600-72021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:72019600-72024400	Enhancers	Fetal Intestine Large	intestine
38	chr14:72019800-72023000	Weak transcription	Brain Angular Gyrus	brain
39	chr14:72020000-72021600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr14:72020000-72021800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:72020000-72022000	Enhancers	Liver	Liver
42	chr14:72020000-72022200	Enhancers	Thymus	Thymus
43	chr14:72020000-72022200	Flanking Active TSS	GM12878-XiMat	blood
44	chr14:72020000-72024000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:72020200-72022000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:72020800-72021800	Weak transcription	HepG2	liver
47	chr14:72020800-72022200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr14:72020800-72023400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:72021000-72022000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:72021000-72024400	Enhancers	Fetal Intestine Small	intestine

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