Variant report

Variant	rs1029570
Chromosome Location	chr14:72043200-72043201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10133626	1.00[JPT][hapmap]
rs10135680	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10138557	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139519	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483836	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873246	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848785	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1204995	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1204996	1.00[JPT][hapmap]
rs12127	0.82[EUR][1000 genomes]
rs12433040	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12878989	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs12879243	0.86[EUR][1000 genomes]
rs12880188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880291	0.82[EUR][1000 genomes]
rs12880611	0.87[EUR][1000 genomes]
rs12881643	0.84[EUR][1000 genomes]
rs12881957	0.87[EUR][1000 genomes]
rs12885344	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887261	0.82[EUR][1000 genomes]
rs12889866	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs12892512	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12894016	0.86[EUR][1000 genomes]
rs12894478	0.83[EUR][1000 genomes]
rs12896900	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs12896986	0.87[EUR][1000 genomes]
rs14030	0.82[EUR][1000 genomes]
rs17178206	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs17178234	0.87[EUR][1000 genomes]
rs17178387	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17767446	0.84[EUR][1000 genomes]
rs17767499	0.84[EUR][1000 genomes]
rs17767523	0.87[EUR][1000 genomes]
rs17767553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs17767680	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17767686	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1859643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981588	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2108049	0.87[EUR][1000 genomes]
rs2108057	0.96[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2109276	0.87[EUR][1000 genomes]
rs2190240	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2214836	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286136	1.00[JPT][hapmap]
rs2332638	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332640	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332641	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877729	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs28859432	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33994051	0.87[EUR][1000 genomes]
rs34169215	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34176710	0.86[EUR][1000 genomes]
rs34281934	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34320622	0.87[EUR][1000 genomes]
rs34347034	0.86[EUR][1000 genomes]
rs34388001	0.82[EUR][1000 genomes]
rs34454371	0.86[EUR][1000 genomes]
rs34469007	0.87[EUR][1000 genomes]
rs34480562	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34524083	0.84[EUR][1000 genomes]
rs34528131	0.84[EUR][1000 genomes]
rs34748537	0.84[EUR][1000 genomes]
rs34991781	0.81[EUR][1000 genomes]
rs34993988	0.87[EUR][1000 genomes]
rs35051046	0.84[EUR][1000 genomes]
rs35231795	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35260692	0.84[EUR][1000 genomes]
rs35415083	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35468256	0.84[EUR][1000 genomes]
rs35589413	0.90[EUR][1000 genomes]
rs35613269	0.87[EUR][1000 genomes]
rs35620527	0.82[EUR][1000 genomes]
rs35625243	0.80[EUR][1000 genomes]
rs35680546	0.86[EUR][1000 genomes]
rs35760654	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35831373	0.81[EUR][1000 genomes]
rs35854505	0.84[EUR][1000 genomes]
rs35971049	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36052007	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36072220	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36093218	0.86[EUR][1000 genomes]
rs3784062	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3784064	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784066	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825719	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140797	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4319698	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4899398	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902938	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902941	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902942	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55883127	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56180634	0.88[EUR][1000 genomes]
rs56407721	0.87[EUR][1000 genomes]
rs61989367	0.87[EUR][1000 genomes]
rs61989373	0.87[EUR][1000 genomes]
rs61989374	0.87[EUR][1000 genomes]
rs61989377	0.86[EUR][1000 genomes]
rs61989379	0.82[EUR][1000 genomes]
rs61989382	0.91[EUR][1000 genomes]
rs61989383	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61989386	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61991247	0.84[EUR][1000 genomes]
rs61991248	0.84[EUR][1000 genomes]
rs61991250	0.84[EUR][1000 genomes]
rs61991254	0.83[EUR][1000 genomes]
rs61991255	0.87[EUR][1000 genomes]
rs6574015	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574016	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66645707	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67489015	0.87[EUR][1000 genomes]
rs7140501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142343	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144299	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144829	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145755	0.84[EUR][1000 genomes]
rs7147434	0.82[EUR][1000 genomes]
rs7147668	0.84[EUR][1000 genomes]
rs7148679	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152674	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152842	0.96[CEU][hapmap];0.82[JPT][hapmap]
rs7154787	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7156313	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156460	0.84[EUR][1000 genomes]
rs7157241	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs722633	0.87[EUR][1000 genomes]
rs725673	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs757850	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003478	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8006300	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8008605	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010616	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8013161	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014349	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017775	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9323561	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9672060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72024400-72052400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:72030600-72048800	Weak transcription	Fetal Kidney	kidney
3	chr14:72031000-72052600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:72035200-72053400	Weak transcription	Spleen	Spleen
5	chr14:72035600-72054600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:72037200-72051000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:72039400-72064400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:72040000-72043200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:72040000-72043600	Enhancers	Fetal Heart	heart
10	chr14:72040000-72044200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:72040200-72043200	Enhancers	Fetal Lung	lung
12	chr14:72040200-72043400	Enhancers	Brain Hippocampus Middle	brain
13	chr14:72040200-72043400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:72040200-72043400	Enhancers	Osteobl	bone
15	chr14:72040400-72043400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:72040800-72043400	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:72040800-72048800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:72041000-72043200	Enhancers	HSMM	muscle
19	chr14:72041000-72043600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:72041000-72043600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:72041000-72044000	Enhancers	Brain Anterior Caudate	brain
22	chr14:72041200-72043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:72041200-72048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:72041200-72050800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:72041200-72052600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:72041400-72043400	Enhancers	Brain Substantia Nigra	brain
27	chr14:72041400-72049800	Weak transcription	Fetal Thymus	thymus
28	chr14:72041400-72052600	Weak transcription	Primary B cells from cord blood	blood
29	chr14:72041400-72054200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:72041600-72043400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:72041800-72043200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:72041800-72043200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:72041800-72043600	Enhancers	HUVEC	blood vessel
34	chr14:72042000-72043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:72042000-72046200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:72042000-72058400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:72042000-72058600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:72042000-72058800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:72042000-72069400	Weak transcription	Lung	lung
40	chr14:72042200-72043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:72042200-72043200	Enhancers	NH-A	brain
42	chr14:72042200-72046400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:72042200-72048800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:72042200-72049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:72042200-72054400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:72042200-72058400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:72042200-72058600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:72042200-72058600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:72042600-72043400	Enhancers	Brain Germinal Matrix	brain
50	chr14:72042800-72043200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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