Variant report

Variant	rs7140452
Chromosome Location	chr14:81379868-81379869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10133034	0.95[CEU][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs10135084	0.92[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10137041	0.83[ASN][1000 genomes]
rs10141970	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10142753	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10144692	0.83[ASN][1000 genomes]
rs1016699	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1038523	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs11625199	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11627934	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1197467	0.92[CEU][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1197473	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1197474	0.96[CEU][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050151	0.86[JPT][hapmap]
rs12050342	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12050416	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433134	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434318	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437260	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs12896436	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs162171	0.96[CEU][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap]
rs162174	0.96[CEU][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162178	0.81[YRI][hapmap]
rs170595	0.93[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs170596	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs17111153	0.86[CHB][hapmap]
rs17111237	0.86[JPT][hapmap]
rs17111246	0.86[JPT][hapmap]
rs17111256	0.88[JPT][hapmap]
rs17615020	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1797671	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863765	0.87[ASN][1000 genomes]
rs1863766	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1976104	0.82[CHB][hapmap]
rs2010847	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs2059719	0.87[JPT][hapmap]
rs2162547	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs2268451	0.81[CEU][hapmap]
rs228109	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228119	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs228122	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs228124	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228126	0.83[ASN][1000 genomes]
rs228128	0.83[ASN][1000 genomes]
rs2284720	0.80[JPT][hapmap]
rs2284722	0.87[JPT][hapmap]
rs2288347	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2371420	0.82[ASN][1000 genomes]
rs2371421	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371456	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2556603	0.83[ASN][1000 genomes]
rs2556604	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2556606	0.83[ASN][1000 genomes]
rs2556607	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2556608	0.83[ASN][1000 genomes]
rs2556610	0.83[ASN][1000 genomes]
rs2556611	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2556613	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2556614	0.81[ASN][1000 genomes]
rs2556615	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619661	0.96[CEU][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28850656	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2888032	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs327423	0.96[CEU][hapmap];0.94[JPT][hapmap]
rs327424	0.96[CEU][hapmap];0.94[JPT][hapmap]
rs327426	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs327428	0.92[CEU][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs327429	0.94[JPT][hapmap];0.96[YRI][hapmap]
rs327431	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327434	0.96[CEU][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327443	0.88[YRI][hapmap]
rs327451	0.89[CEU][hapmap];0.86[ASN][1000 genomes]
rs327452	0.96[CEU][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs327454	0.96[CEU][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs328206	0.96[CEU][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs328212	0.96[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs328213	0.96[CEU][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4016442	0.84[ASN][1000 genomes]
rs4899779	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899780	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899781	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903943	0.83[ASN][1000 genomes]
rs4903944	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4903945	0.81[ASN][1000 genomes]
rs4903946	0.83[ASN][1000 genomes]
rs4903947	0.84[ASN][1000 genomes]
rs4903949	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4903957	0.80[JPT][hapmap]
rs4903958	0.80[JPT][hapmap]
rs58625998	0.82[ASN][1000 genomes]
rs58699962	0.83[ASN][1000 genomes]
rs6574606	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6574608	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6574609	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574610	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6574611	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574615	0.82[YRI][hapmap]
rs7147306	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156306	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156572	0.88[CEU][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7157845	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs7158936	0.92[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs722906	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs72693011	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72693013	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7493314	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs759918	0.84[ASN][1000 genomes]
rs759919	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs768359	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008366	0.93[CEU][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8009508	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8010491	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016507	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs8017038	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8017949	0.85[ASN][1000 genomes]
rs9323694	0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9671671	0.87[EUR][1000 genomes];0.86[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
3	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
8	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
13	chr14:81359200-81380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:81359400-81380000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:81359400-81380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81359400-81406000	Weak transcription	A549	lung
18	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:81360000-81383400	Strong transcription	Dnd41	blood
22	chr14:81360200-81393800	Weak transcription	HMEC	breast
23	chr14:81362000-81384600	Weak transcription	HUVEC	blood vessel
24	chr14:81362200-81392600	Weak transcription	NH-A	brain
25	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:81363400-81381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:81364000-81381800	Weak transcription	Liver	Liver
29	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
31	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:81366400-81382000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:81367000-81381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:81369400-81389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:81370000-81381800	Weak transcription	Primary B cells from cord blood	blood
37	chr14:81370400-81393600	Weak transcription	NHEK	skin
38	chr14:81370600-81381600	Weak transcription	Pancreas	Pancrea
39	chr14:81371400-81381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
42	chr14:81372200-81381400	Weak transcription	Brain Germinal Matrix	brain
43	chr14:81372400-81381400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:81372800-81381800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:81373600-81380600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:81373600-81392600	Weak transcription	Esophagus	oesophagus
47	chr14:81373800-81381400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:81373800-81392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:81375400-81384000	Weak transcription	Colonic Mucosa	Colon
50	chr14:81375400-81407600	Weak transcription	Gastric	stomach

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