Variant report

Variant	rs74058541
Chromosome Location	chr14:66104820-66104821
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10130526	1.00[ASN][1000 genomes]
rs10131727	0.93[ASN][1000 genomes]
rs10143920	1.00[ASN][1000 genomes]
rs10149311	0.93[ASN][1000 genomes]
rs10483777	0.95[ASN][1000 genomes]
rs11847101	0.83[ASN][1000 genomes]
rs11849249	0.83[ASN][1000 genomes]
rs11849792	0.83[ASN][1000 genomes]
rs12323434	0.93[ASN][1000 genomes]
rs12431562	0.95[ASN][1000 genomes]
rs12431772	0.85[ASN][1000 genomes]
rs12432032	0.95[ASN][1000 genomes]
rs12432422	0.83[ASN][1000 genomes]
rs12432426	0.95[ASN][1000 genomes]
rs12433051	0.91[ASN][1000 genomes]
rs12433273	0.95[ASN][1000 genomes]
rs12433688	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12434375	1.00[ASN][1000 genomes]
rs12434513	0.95[ASN][1000 genomes]
rs12434626	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435769	0.85[ASN][1000 genomes]
rs12435809	0.95[ASN][1000 genomes]
rs12435971	0.83[ASN][1000 genomes]
rs12436349	0.95[ASN][1000 genomes]
rs12436381	0.93[ASN][1000 genomes]
rs12436402	1.00[ASN][1000 genomes]
rs12436434	0.95[ASN][1000 genomes]
rs12436482	0.95[ASN][1000 genomes]
rs12436677	0.95[ASN][1000 genomes]
rs12436771	0.85[ASN][1000 genomes]
rs12437088	0.95[ASN][1000 genomes]
rs12437132	0.91[ASN][1000 genomes]
rs17102688	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17102708	0.95[ASN][1000 genomes]
rs17102839	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17102854	0.85[ASN][1000 genomes]
rs17102894	0.83[ASN][1000 genomes]
rs17102898	0.83[ASN][1000 genomes]
rs17246385	0.95[ASN][1000 genomes]
rs17246441	0.85[ASN][1000 genomes]
rs17246504	0.80[ASN][1000 genomes]
rs17246532	0.82[ASN][1000 genomes]
rs17826892	0.85[ASN][1000 genomes]
rs17826946	0.85[ASN][1000 genomes]
rs17826952	0.85[ASN][1000 genomes]
rs1952605	1.00[ASN][1000 genomes]
rs2073295	0.85[ASN][1000 genomes]
rs2268965	0.81[ASN][1000 genomes]
rs2295360	0.80[ASN][1000 genomes]
rs2300863	0.91[ASN][1000 genomes]
rs2300866	0.91[ASN][1000 genomes]
rs2300870	0.85[ASN][1000 genomes]
rs28496380	0.85[ASN][1000 genomes]
rs2898701	0.83[ASN][1000 genomes]
rs55674739	0.94[AFR][1000 genomes]
rs55698845	0.94[AFR][1000 genomes]
rs55723633	0.84[AFR][1000 genomes]
rs55954698	0.94[AFR][1000 genomes]
rs56258162	0.94[AFR][1000 genomes]
rs56401246	0.83[AFR][1000 genomes]
rs56821971	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs57228058	0.94[AFR][1000 genomes]
rs57283810	0.84[AFR][1000 genomes]
rs58087042	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58160832	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59036531	0.83[ASN][1000 genomes]
rs59328088	0.83[AFR][1000 genomes]
rs60009307	0.94[AFR][1000 genomes]
rs60393585	0.94[AFR][1000 genomes]
rs60470427	0.94[AFR][1000 genomes]
rs61016861	0.94[AFR][1000 genomes]
rs61417186	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61987778	0.83[ASN][1000 genomes]
rs74056768	0.94[AFR][1000 genomes]
rs74056775	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs74056782	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74056784	0.94[AFR][1000 genomes]
rs74056787	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74056794	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs74056796	0.94[AFR][1000 genomes]
rs74056798	0.94[AFR][1000 genomes]
rs74056800	0.95[ASN][1000 genomes]
rs74056807	0.89[AFR][1000 genomes]
rs74056811	0.94[AFR][1000 genomes]
rs74056813	0.94[AFR][1000 genomes]
rs74056815	0.94[AFR][1000 genomes]
rs74056816	0.94[AFR][1000 genomes]
rs74056826	0.89[AFR][1000 genomes]
rs74056829	0.94[AFR][1000 genomes]
rs74058503	0.84[AFR][1000 genomes]
rs74058505	0.95[ASN][1000 genomes]
rs74058507	0.94[AFR][1000 genomes]
rs74058513	0.84[AFR][1000 genomes]
rs74058518	0.94[AFR][1000 genomes]
rs74058519	0.84[AFR][1000 genomes]
rs74058523	0.94[AFR][1000 genomes]
rs74058524	0.94[AFR][1000 genomes]
rs74058525	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74058528	0.94[AFR][1000 genomes]
rs74058529	0.84[AFR][1000 genomes]
rs74058536	0.83[AFR][1000 genomes]
rs74058539	0.94[AFR][1000 genomes]
rs74058545	0.94[AFR][1000 genomes]
rs74058546	0.94[AFR][1000 genomes]
rs74058547	0.94[AFR][1000 genomes]
rs74058548	0.94[AFR][1000 genomes]
rs74058549	0.94[AFR][1000 genomes]
rs74058550	0.94[AFR][1000 genomes]
rs74058551	0.94[AFR][1000 genomes]
rs74058553	0.94[AFR][1000 genomes]
rs74058554	0.94[AFR][1000 genomes]
rs74058556	0.94[AFR][1000 genomes]
rs74058557	0.94[AFR][1000 genomes]
rs74058560	0.85[ASN][1000 genomes]
rs74058562	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs74058563	0.94[AFR][1000 genomes]
rs74058564	0.94[AFR][1000 genomes]
rs8004564	0.83[ASN][1000 genomes]
rs956582	0.82[ASN][1000 genomes]
rs997794	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66077600-66114400	Weak transcription	Ovary	ovary
2	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
3	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
4	chr14:66081800-66112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:66082200-66112600	Weak transcription	NHDF-Ad	bronchial
6	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
7	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
8	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
9	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:66096000-66105400	Weak transcription	HUVEC	blood vessel
11	chr14:66098000-66116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:66098000-66125000	Weak transcription	Brain Substantia Nigra	brain
13	chr14:66098200-66115200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:66098200-66118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:66099200-66115200	Weak transcription	Placenta	Placenta
17	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:66102200-66108200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:66102800-66105200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:66102800-66105200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:66103000-66105200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:66103200-66105000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:66103200-66105400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:66103200-66112400	Weak transcription	Fetal Intestine Large	intestine
27	chr14:66103600-66105000	Genic enhancers	Dnd41	blood
28	chr14:66103800-66105200	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr14:66103800-66105200	Enhancers	GM12878-XiMat	blood
30	chr14:66104000-66105200	Enhancers	Stomach Mucosa	stomach
31	chr14:66104400-66105000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:66104400-66105000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:66104400-66105000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:66104400-66105000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:66104400-66105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:66104400-66105000	Enhancers	Esophagus	oesophagus
37	chr14:66104400-66105000	Enhancers	Fetal Thymus	thymus
38	chr14:66104400-66105000	Enhancers	Gastric	stomach
39	chr14:66104400-66105000	Enhancers	HMEC	breast
40	chr14:66104400-66105000	Enhancers	NHEK	skin
41	chr14:66104400-66105200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr14:66104400-66105200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:66104400-66105200	Enhancers	NH-A	brain
44	chr14:66104400-66105400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:66104600-66105000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:66104600-66105000	Genic enhancers	Primary B cells from cord blood	blood
47	chr14:66104600-66105000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:66104600-66105000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:66104600-66105000	Enhancers	Lung	lung
50	chr14:66104600-66105000	Enhancers	HSMM	muscle

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