Variant report

Variant	rs17824943
Chromosome Location	chr14:63871366-63871367
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11850471	1.00[EUR][1000 genomes]
rs1255615	1.00[EUR][1000 genomes]
rs1255717	1.00[EUR][1000 genomes]
rs1255773	1.00[EUR][1000 genomes]
rs1255787	1.00[EUR][1000 genomes]
rs17101134	1.00[AMR][1000 genomes]
rs17101158	1.00[EUR][1000 genomes]
rs17101167	1.00[EUR][1000 genomes]
rs17225133	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17225301	1.00[EUR][1000 genomes]
rs17824967	1.00[EUR][1000 genomes]
rs17824991	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17825003	1.00[EUR][1000 genomes]
rs17825015	1.00[EUR][1000 genomes]
rs17825021	1.00[EUR][1000 genomes]
rs17825057	1.00[EUR][1000 genomes]
rs17825063	1.00[EUR][1000 genomes]
rs17825081	1.00[EUR][1000 genomes]
rs1951211	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2356514	0.87[AMR][1000 genomes]
rs3742626	1.00[AMR][1000 genomes]
rs3783737	1.00[EUR][1000 genomes]
rs3783742	1.00[EUR][1000 genomes]
rs3783746	1.00[AMR][1000 genomes]
rs3813412	1.00[AMR][1000 genomes]
rs4551962	1.00[AMR][1000 genomes]
rs7141733	0.92[AMR][1000 genomes]
rs73270497	0.92[AMR][1000 genomes]
rs73272512	1.00[AMR][1000 genomes]
rs73272530	0.92[AMR][1000 genomes]
rs73272531	0.92[AMR][1000 genomes]
rs73274647	1.00[EUR][1000 genomes]
rs74060078	1.00[EUR][1000 genomes]
rs74060079	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
2	chr14:63841800-63871800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:63849000-63888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:63851000-63871600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:63851200-63886000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
8	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:63852400-63882200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:63852600-63877000	Weak transcription	Spleen	Spleen
12	chr14:63852600-63899000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:63853200-63886600	Weak transcription	NH-A	brain
14	chr14:63854000-63893400	Weak transcription	Fetal Brain Male	brain
15	chr14:63854600-63872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:63855000-63886000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:63855400-63873200	Weak transcription	Fetal Kidney	kidney
19	chr14:63856200-63883000	Weak transcription	K562	blood
20	chr14:63858000-63871600	Weak transcription	Brain Germinal Matrix	brain
21	chr14:63858000-63877000	Weak transcription	Aorta	Aorta
22	chr14:63858000-63877400	Weak transcription	Esophagus	oesophagus
23	chr14:63858000-63880600	Weak transcription	Gastric	stomach
24	chr14:63858000-63890200	Weak transcription	Pancreas	Pancrea
25	chr14:63858200-63873400	Weak transcription	HepG2	liver
26	chr14:63858400-63900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:63858600-63891400	Weak transcription	Osteobl	bone
28	chr14:63859800-63871400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:63859800-63878800	Weak transcription	HSMMtube	muscle
30	chr14:63859800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:63860000-63888000	Weak transcription	HUVEC	blood vessel
32	chr14:63860200-63880400	Weak transcription	Hela-S3	cervix
33	chr14:63860400-63877000	Weak transcription	Fetal Stomach	stomach
34	chr14:63860400-63877600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:63860400-63885600	Weak transcription	Fetal Intestine Small	intestine
36	chr14:63860600-63873400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:63860600-63873600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:63861800-63873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:63861800-63878800	Weak transcription	Placenta	Placenta
40	chr14:63862000-63873200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:63862000-63873200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:63862000-63873800	Weak transcription	NHDF-Ad	bronchial
43	chr14:63862000-63876200	Weak transcription	Fetal Intestine Large	intestine
44	chr14:63862000-63876200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:63862000-63877400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:63862000-63878000	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:63862000-63878800	Weak transcription	Left Ventricle	heart
48	chr14:63862000-63879000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:63862000-63880000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:63862000-63880200	Weak transcription	NHEK	skin

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