Variant report

Variant	rs73268512
Chromosome Location	chr14:66088905-66088906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11846546	0.92[ASN][1000 genomes]
rs11849252	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11849862	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11850847	0.81[EUR][1000 genomes]
rs11851013	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11851772	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12431420	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12433827	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12434585	0.83[EUR][1000 genomes]
rs12435908	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437427	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17246259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17826580	0.83[EUR][1000 genomes]
rs17826724	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17826736	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17826790	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17826796	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17826820	0.91[AMR][1000 genomes]
rs1998035	0.91[AMR][1000 genomes]
rs2073294	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2152375	0.81[EUR][1000 genomes]
rs2184602	0.83[EUR][1000 genomes]
rs2268957	0.91[AMR][1000 genomes]
rs2268960	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300867	0.82[AMR][1000 genomes]
rs2300871	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56156482	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57012661	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57201867	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57451368	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58032513	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58115860	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58227678	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59117465	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59204447	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59561356	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59676254	0.83[EUR][1000 genomes]
rs59685862	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59921977	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60396689	0.88[EUR][1000 genomes]
rs60554055	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60919640	0.91[ASN][1000 genomes]
rs60942639	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61038704	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61315421	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61533229	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7140261	0.85[EUR][1000 genomes]
rs7153679	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73268521	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73268524	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73268557	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73284121	0.83[EUR][1000 genomes]
rs73284133	0.83[EUR][1000 genomes]
rs73284143	0.88[EUR][1000 genomes]
rs73286118	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73286169	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73286173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8005309	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8018909	0.88[EUR][1000 genomes]
rs8019491	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9635251	0.83[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:59 , 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	chr14:66070600-66096200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:66073600-66096000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:66075400-66096400	Weak transcription	Adipose Nuclei	Adipose
5	chr14:66077600-66097600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:66077600-66114400	Weak transcription	Ovary	ovary
7	chr14:66078000-66094200	Weak transcription	Fetal Intestine Small	intestine
8	chr14:66078000-66100600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:66079200-66096200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:66079400-66104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:66079600-66096400	Weak transcription	Brain Anterior Caudate	brain
12	chr14:66079600-66104400	Weak transcription	Gastric	stomach
13	chr14:66080000-66100400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:66080200-66092200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:66080400-66096600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:66080800-66092200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:66080800-66117600	Weak transcription	Left Ventricle	heart
18	chr14:66081000-66096200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:66081400-66096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:66081400-66100200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
22	chr14:66081600-66094200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:66081600-66096600	Weak transcription	NH-A	brain
24	chr14:66081600-66097800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:66081800-66089000	Strong transcription	Dnd41	blood
26	chr14:66081800-66095800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:66081800-66098200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:66081800-66112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:66082200-66091600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:66082200-66112600	Weak transcription	NHDF-Ad	bronchial
31	chr14:66082600-66092200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:66082600-66096000	Weak transcription	Fetal Stomach	stomach
33	chr14:66082600-66101400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:66082800-66099400	Weak transcription	Fetal Brain Female	brain
35	chr14:66082800-66117600	Weak transcription	Aorta	Aorta
36	chr14:66083000-66089000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr14:66083000-66101600	Weak transcription	Brain Germinal Matrix	brain
38	chr14:66083200-66099400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:66083200-66103200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:66083600-66096000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:66084000-66096200	Weak transcription	Placenta	Placenta
42	chr14:66084200-66097400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:66084400-66095600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:66084400-66096000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:66084400-66096000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:66084400-66097600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:66084400-66098800	Weak transcription	Fetal Thymus	thymus
48	chr14:66084600-66096800	Weak transcription	Fetal Intestine Large	intestine
49	chr14:66084600-66097400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:66084600-66104400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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