Variant report

Variant	rs73282299
Chromosome Location	chr14:65898642-65898643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs57134875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309452	0.83[AFR][1000 genomes]
rs58794139	0.83[AFR][1000 genomes]
rs58832122	1.00[AMR][1000 genomes]
rs58925725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59515554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60444883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61155946	1.00[AMR][1000 genomes]
rs61187056	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226824	1.00[AMR][1000 genomes]
rs73268519	1.00[AFR][1000 genomes]
rs73268522	1.00[AFR][1000 genomes]
rs73278048	0.91[AFR][1000 genomes]
rs73278079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280103	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280111	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282204	0.83[AFR][1000 genomes]
rs73282270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282301	1.00[AMR][1000 genomes]
rs73282302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880600-65899400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:65880600-65899400	Weak transcription	Small Intestine	intestine
3	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:65881000-65899400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:65881000-65902600	Weak transcription	Fetal Intestine Small	intestine
6	chr14:65881800-65901000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:65881800-65902000	Weak transcription	Primary B cells from cord blood	blood
8	chr14:65881800-65902000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:65882600-65900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:65888200-65898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:65888200-65898800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:65888400-65898800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:65888400-65905400	Weak transcription	Ovary	ovary
15	chr14:65888800-65898800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:65889000-65898800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:65889000-65901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:65889200-65899400	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:65889200-65899400	Weak transcription	NHDF-Ad	bronchial
20	chr14:65891000-65898800	Weak transcription	Stomach Mucosa	stomach
21	chr14:65891000-65899200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:65891200-65900400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:65891600-65904000	Weak transcription	Lung	lung
24	chr14:65891800-65898800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:65891800-65904400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:65893600-65902200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:65895200-65899200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:65895400-65898800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:65895600-65898800	Weak transcription	Brain Substantia Nigra	brain
32	chr14:65895600-65899600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:65895800-65899200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:65895800-65899400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:65895800-65899400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:65896000-65899800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
38	chr14:65898000-65899600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:65898000-65899600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:65898000-65901200	Enhancers	Dnd41	blood
41	chr14:65898200-65899200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:65898200-65899600	Enhancers	Brain Anterior Caudate	brain
43	chr14:65898400-65899000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:65898400-65899400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:65898400-65899400	Weak transcription	Fetal Thymus	thymus
46	chr14:65898400-65899800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:65898400-65900200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:65898400-65900200	Enhancers	K562	blood
49	chr14:65898400-65900800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:65898400-65901400	Enhancers	Osteobl	bone

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