Variant report

Variant	rs28685885
Chromosome Location	chr14:45519058-45519059
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10129456	1.00[AMR][1000 genomes]
rs10130162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131972	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	1.00[AMR][1000 genomes]
rs10132637	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.96[AFR][1000 genomes]
rs10139121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	1.00[AMR][1000 genomes]
rs10144179	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10145279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146732	0.84[AFR][1000 genomes]
rs10146930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147794	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.96[AFR][1000 genomes]
rs10150272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.81[AFR][1000 genomes]
rs17092470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.80[AFR][1000 genomes]
rs28469277	0.94[AFR][1000 genomes]
rs28513185	0.81[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	1.00[AMR][1000 genomes]
rs8022599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	1.00[AMR][1000 genomes]
rs961194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:45465800-45552600	Weak transcription	HMEC	breast
3	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
4	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
5	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:45502200-45525600	Weak transcription	NHEK	skin
8	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
10	chr14:45508000-45540000	Weak transcription	K562	blood
11	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
15	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:45509000-45523000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:45509200-45519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:45509200-45519400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:45509200-45521000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:45509200-45521200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:45509200-45522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:45509200-45522800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:45509200-45523200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:45509200-45526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:45509200-45528600	Weak transcription	Esophagus	oesophagus
28	chr14:45509200-45529800	Weak transcription	Spleen	Spleen
29	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:45509200-45543400	Weak transcription	Lung	lung
31	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
33	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
34	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
35	chr14:45509200-45553000	Weak transcription	Gastric	stomach
36	chr14:45509400-45521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
38	chr14:45513800-45520200	Weak transcription	Fetal Brain Female	brain
39	chr14:45514200-45521000	Weak transcription	HSMM	muscle
40	chr14:45514200-45526200	Weak transcription	HepG2	liver
41	chr14:45515200-45525000	Strong transcription	Fetal Intestine Small	intestine
42	chr14:45515400-45524800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:45515400-45525000	Strong transcription	Fetal Stomach	stomach
44	chr14:45515800-45523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:45515800-45528400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:45516000-45524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:45516000-45527600	Weak transcription	Hela-S3	cervix
49	chr14:45516000-45530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:45516200-45519600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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