Variant report

Variant	rs28762775
Chromosome Location	chr14:71546438-71546439
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129880	1.00[AMR][1000 genomes]
rs10136814	1.00[AMR][1000 genomes]
rs10139846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140169	1.00[AMR][1000 genomes]
rs10142779	1.00[AMR][1000 genomes]
rs10144794	1.00[AMR][1000 genomes]
rs10150546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162544	1.00[AFR][1000 genomes]
rs10220367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10438163	1.00[AFR][1000 genomes]
rs13379253	1.00[AMR][1000 genomes]
rs17093725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108684	1.00[AMR][1000 genomes]
rs17108903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108961	1.00[AMR][1000 genomes]
rs17108970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450258	1.00[AMR][1000 genomes]
rs28516802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28742977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28838938	1.00[AMR][1000 genomes]
rs9323554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806048	1.00[AMR][1000 genomes]
rs9989187	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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv565043	chr14:71395604-71625112	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:71538800-71584800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:71540000-71547000	Strong transcription	Fetal Thymus	thymus
4	chr14:71543000-71547000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:71543800-71547000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr14:71544200-71550600	Weak transcription	Spleen	Spleen
7	chr14:71544200-71551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71544200-71551000	Weak transcription	Esophagus	oesophagus
9	chr14:71544200-71553200	Weak transcription	Pancreas	Pancrea
10	chr14:71544400-71551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:71544400-71554800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:71544400-71555600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:71544400-71568800	Weak transcription	Gastric	stomach
14	chr14:71544600-71553400	Weak transcription	Aorta	Aorta
15	chr14:71544800-71553200	Weak transcription	Right Ventricle	heart
16	chr14:71544800-71554600	Weak transcription	HepG2	liver
17	chr14:71544800-71561400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:71544800-71571800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:71544800-71572000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:71544800-71575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:71544800-71581400	Weak transcription	Small Intestine	intestine
22	chr14:71545200-71551400	Weak transcription	Thymus	Thymus
23	chr14:71545200-71555000	Weak transcription	Placenta	Placenta
24	chr14:71545200-71555000	Weak transcription	HUVEC	blood vessel
25	chr14:71545200-71556000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:71545200-71556400	Weak transcription	Fetal Heart	heart
27	chr14:71545400-71551600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:71545400-71551800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:71545400-71551800	Weak transcription	Ovary	ovary
30	chr14:71545400-71551800	Weak transcription	NHDF-Ad	bronchial
31	chr14:71545400-71552000	Weak transcription	HSMM	muscle
32	chr14:71545400-71552400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:71545400-71554800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:71545400-71555600	Weak transcription	NH-A	brain
35	chr14:71545400-71556000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:71545400-71556200	Weak transcription	HSMMtube	muscle
37	chr14:71545400-71556400	Weak transcription	HMEC	breast
38	chr14:71545400-71557600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:71545400-71559400	Weak transcription	NHEK	skin
40	chr14:71545400-71570000	Weak transcription	Psoas Muscle	Psoas
41	chr14:71545400-71572000	Weak transcription	Hela-S3	cervix
42	chr14:71545400-71574800	Weak transcription	NHLF	lung
43	chr14:71545600-71554800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:71545600-71555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:71545600-71555000	Weak transcription	A549	lung
46	chr14:71545600-71555600	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:71545800-71547000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:71545800-71550400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:71545800-71550600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr14:71545800-71550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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