Variant report

Variant	rs73268524
Chromosome Location	chr14:66096533-66096534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11849252	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11849862	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850847	0.83[EUR][1000 genomes]
rs11851013	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11851772	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12431420	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12433827	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12434585	0.85[EUR][1000 genomes]
rs12435908	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12437427	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17246259	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17826580	0.85[EUR][1000 genomes]
rs17826724	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17826736	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17826790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17826796	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17826820	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1998035	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073294	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2152375	0.83[EUR][1000 genomes]
rs2184602	0.85[EUR][1000 genomes]
rs2268957	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268958	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2268960	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2268963	0.94[ASN][1000 genomes]
rs2300867	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2300871	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2300872	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56156482	0.82[EUR][1000 genomes]
rs57012661	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57201867	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451368	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58032513	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58115860	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58227678	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59117465	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59204447	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59561356	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59676254	0.85[EUR][1000 genomes]
rs59685862	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59921977	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60396689	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60554055	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60942639	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61038704	0.86[AFR][1000 genomes]
rs61315421	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61533229	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7140261	0.87[EUR][1000 genomes]
rs7153679	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73268512	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73268521	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268557	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73284121	0.85[EUR][1000 genomes]
rs73284133	0.85[EUR][1000 genomes]
rs73284143	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73286118	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73286169	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73286173	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8005309	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018909	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8019491	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635251	0.85[EUR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66061800-66099000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:66077600-66097600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:66077600-66114400	Weak transcription	Ovary	ovary
4	chr14:66078000-66100600	Weak transcription	Brain Angular Gyrus	brain
5	chr14:66079400-66104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:66079600-66104400	Weak transcription	Gastric	stomach
7	chr14:66080000-66100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:66080400-66096600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
10	chr14:66081400-66096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:66081400-66100200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
13	chr14:66081600-66096600	Weak transcription	NH-A	brain
14	chr14:66081600-66097800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:66081800-66098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:66081800-66112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:66082200-66112600	Weak transcription	NHDF-Ad	bronchial
18	chr14:66082600-66101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:66082800-66099400	Weak transcription	Fetal Brain Female	brain
20	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
21	chr14:66083000-66101600	Weak transcription	Brain Germinal Matrix	brain
22	chr14:66083200-66099400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:66083200-66103200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:66084200-66097400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:66084400-66097600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:66084400-66098800	Weak transcription	Fetal Thymus	thymus
27	chr14:66084600-66096800	Weak transcription	Fetal Intestine Large	intestine
28	chr14:66084600-66097400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:66084600-66104400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:66084800-66104000	Weak transcription	Stomach Mucosa	stomach
31	chr14:66086400-66119600	Weak transcription	Pancreas	Pancrea
32	chr14:66088200-66101400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:66090600-66103200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
35	chr14:66091800-66098800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:66091800-66104000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:66092400-66100800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:66092600-66098800	Strong transcription	Dnd41	blood
39	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:66093600-66097800	Strong transcription	Primary B cells from cord blood	blood
41	chr14:66093800-66104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:66094800-66098600	Weak transcription	Fetal Brain Male	brain
43	chr14:66095000-66097800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:66095200-66100000	Weak transcription	Liver	Liver
45	chr14:66095200-66101800	Weak transcription	Fetal Lung	lung
46	chr14:66095600-66099200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:66095800-66097000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:66095800-66097400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr14:66095800-66099600	Strong transcription	Primary T cells from cord blood	blood
50	chr14:66095800-66101200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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