Variant report

Variant	rs8020260
Chromosome Location	chr14:63855109-63855110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10083326	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10135461	0.85[EUR][1000 genomes]
rs10135846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10139582	0.83[EUR][1000 genomes]
rs10140003	0.82[EUR][1000 genomes]
rs10140256	0.83[EUR][1000 genomes]
rs10142991	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143004	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10146129	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10148077	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10150042	0.85[EUR][1000 genomes]
rs10150580	0.83[EUR][1000 genomes]
rs10151995	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11158486	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11158487	0.83[EUR][1000 genomes]
rs11158488	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11624328	0.85[EUR][1000 genomes]
rs11624485	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12432694	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12433884	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435569	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12587233	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12590225	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1986032	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2006073	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2093019	0.82[EUR][1000 genomes]
rs2093020	0.82[EUR][1000 genomes]
rs2103947	0.82[EUR][1000 genomes]
rs2356515	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28366791	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28375081	0.83[EUR][1000 genomes]
rs28482044	0.83[EUR][1000 genomes]
rs28571942	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28789407	0.83[EUR][1000 genomes]
rs3742624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742625	0.83[EUR][1000 genomes]
rs3783747	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3813413	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3825649	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829766	0.86[EUR][1000 genomes]
rs57638578	0.83[EUR][1000 genomes]
rs58205667	0.83[EUR][1000 genomes]
rs61994988	0.85[EUR][1000 genomes]
rs61994990	0.80[EUR][1000 genomes]
rs61994995	0.90[EUR][1000 genomes]
rs61994996	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61994998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6573512	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573513	0.87[EUR][1000 genomes]
rs7140274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141176	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7143299	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7146445	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147454	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147693	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7148631	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7150819	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7161314	0.93[EUR][1000 genomes]
rs7342572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs743221	0.87[EUR][1000 genomes]
rs8004556	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8005319	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8015072	0.87[EUR][1000 genomes]
rs8015815	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8017758	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8020616	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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	chr14:63829400-63861200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
3	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:63837000-63859200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
6	chr14:63839400-63862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:63840000-63864000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:63841800-63871800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:63844400-63861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:63844800-63862000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:63846000-63862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:63846200-63856600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:63846200-63862600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:63846200-63862600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:63846400-63860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr14:63846400-63862200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:63846400-63863600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:63846400-63867400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:63846600-63855600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:63846600-63856000	Strong transcription	Adipose Nuclei	Adipose
22	chr14:63846600-63858000	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:63846600-63858200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr14:63846600-63858400	Strong transcription	Liver	Liver
25	chr14:63846600-63859600	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:63846600-63862000	Strong transcription	Fetal Intestine Large	intestine
27	chr14:63846800-63861800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:63847000-63860200	Strong transcription	Dnd41	blood
29	chr14:63847000-63862000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:63847200-63855800	Weak transcription	Stomach Mucosa	stomach
31	chr14:63847200-63862400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:63847400-63858000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:63847400-63860600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:63847400-63862000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:63847600-63855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:63847600-63856800	Strong transcription	Placenta	Placenta
37	chr14:63847600-63858600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:63847600-63860400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr14:63848000-63855800	Strong transcription	Fetal Lung	lung
40	chr14:63848200-63856200	Strong transcription	Ovary	ovary
41	chr14:63849000-63859200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:63849000-63868400	Weak transcription	Psoas Muscle	Psoas
43	chr14:63849000-63888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:63849200-63863600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:63850400-63855800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:63850600-63855800	Strong transcription	Fetal Intestine Small	intestine
47	chr14:63850600-63858400	Strong transcription	Fetal Stomach	stomach
48	chr14:63850600-63862000	Strong transcription	Left Ventricle	heart
49	chr14:63850800-63855800	Strong transcription	Fetal Brain Female	brain
50	chr14:63851000-63855200	Weak transcription	K562	blood

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