Variant report

Variant	rs7143299
Chromosome Location	chr14:63847779-63847780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10083326	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10135461	0.90[EUR][1000 genomes]
rs10135846	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139582	0.88[EUR][1000 genomes]
rs10139766	0.80[EUR][1000 genomes]
rs10140003	0.84[EUR][1000 genomes]
rs10140256	0.85[EUR][1000 genomes]
rs10142913	0.82[EUR][1000 genomes]
rs10142991	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10143004	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10146129	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150042	0.90[EUR][1000 genomes]
rs10150580	0.85[EUR][1000 genomes]
rs10151995	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158486	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158487	0.88[EUR][1000 genomes]
rs11158488	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11624328	0.90[EUR][1000 genomes]
rs11624485	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12323683	0.85[EUR][1000 genomes]
rs12432694	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12433884	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12435569	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12587233	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590225	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1475039	0.85[CHB][hapmap]
rs1986032	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2006073	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2093019	0.84[EUR][1000 genomes]
rs2093020	0.84[EUR][1000 genomes]
rs2103947	0.84[EUR][1000 genomes]
rs2144965	0.80[EUR][1000 genomes]
rs2145603	0.85[CHB][hapmap]
rs2356515	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28366791	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28375081	0.88[EUR][1000 genomes]
rs28409133	0.85[EUR][1000 genomes]
rs28482044	0.88[EUR][1000 genomes]
rs28571942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28789407	0.85[EUR][1000 genomes]
rs3742624	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742625	0.88[EUR][1000 genomes]
rs3783747	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813413	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825649	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829766	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs57638578	0.85[EUR][1000 genomes]
rs58205667	0.85[EUR][1000 genomes]
rs61994988	0.87[EUR][1000 genomes]
rs61994990	0.82[EUR][1000 genomes]
rs61994995	0.95[EUR][1000 genomes]
rs61994996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61994998	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573512	0.95[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573513	0.95[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141176	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7146445	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147454	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147693	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7148631	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150819	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161314	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7342572	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs743221	0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8004556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8005319	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8015072	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8015815	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017758	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8020260	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8020616	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv431011	chr14:63743247-63866686	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051684	chr14:63752916-63867677	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2751279	chr14:63754363-63871416	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2751280	chr14:63758432-63855575	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2751281	chr14:63758432-63866686	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1041108	chr14:63765661-63864885	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2761522	chr14:63765673-63867689	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv519574	chr14:63767811-63857808	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1049419	chr14:63775037-63853252	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1053882	chr14:63775037-63857536	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1054848	chr14:63775037-63864885	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1044094	chr14:63775037-63865925	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1039158	chr14:63775037-63866686	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv1036375	chr14:63775037-63867296	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1050897	chr14:63775037-63867677	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv456324	chr14:63775684-63857808	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv564899	chr14:63775684-63857808	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv1049638	chr14:63776289-63867296	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv1045700	chr14:63777124-63857536	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv456325	chr14:63778748-63852177	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv564901	chr14:63778748-63852177	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv2751282	chr14:63779111-63854805	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv2753320	chr14:63779111-63854805	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv2751283	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	esv2751284	chr14:63779111-63855575	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	nsv431012	chr14:63779111-63855575	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	nsv902018	chr14:63786658-63884984	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63829400-63848000	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:63829600-63850600	Weak transcription	Pancreas	Pancrea
4	chr14:63829800-63850800	Weak transcription	Aorta	Aorta
5	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
6	chr14:63835000-63848400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:63835200-63848000	Weak transcription	Fetal Brain Female	brain
9	chr14:63835200-63848400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:63836400-63848400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:63837000-63859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:63837800-63848200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:63837800-63848200	Weak transcription	Ovary	ovary
14	chr14:63837800-63850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:63837800-63850600	Weak transcription	Esophagus	oesophagus
16	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
17	chr14:63838200-63847800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:63838400-63848600	Weak transcription	Colonic Mucosa	Colon
19	chr14:63838400-63850600	Weak transcription	Gastric	stomach
20	chr14:63838800-63848800	Weak transcription	Lung	lung
21	chr14:63839400-63848200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:63839400-63862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:63840000-63864000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:63840800-63850800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:63841200-63848400	Weak transcription	K562	blood
26	chr14:63841200-63848800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:63841200-63852400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:63841800-63871800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:63842800-63848000	Weak transcription	Fetal Lung	lung
30	chr14:63843200-63848000	Weak transcription	NHEK	skin
31	chr14:63843200-63848200	Weak transcription	Spleen	Spleen
32	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:63843800-63849800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:63844000-63848400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:63844400-63861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:63844800-63848200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:63844800-63849200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:63844800-63850000	Strong transcription	A549	lung
39	chr14:63844800-63850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:63844800-63862000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:63845600-63848200	Weak transcription	Psoas Muscle	Psoas
42	chr14:63846000-63862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:63846200-63848200	Strong transcription	Fetal Stomach	stomach
44	chr14:63846200-63849200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:63846200-63852600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:63846200-63852800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:63846200-63856600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:63846200-63862600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:63846200-63862600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:63846400-63854800	Strong transcription	Rectal Mucosa Donor 31	rectum

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