Variant report

Variant	rs62086545
Chromosome Location	chr18:45379827-45379828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12454516	1.00[AFR][1000 genomes]
rs12456907	1.00[AFR][1000 genomes]
rs17814648	1.00[AFR][1000 genomes]
rs1945723	1.00[AFR][1000 genomes]
rs62086501	1.00[EUR][1000 genomes]
rs62086510	1.00[AFR][1000 genomes]
rs62088122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62088123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057722	chr18:45343965-45401360	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1058673	chr18:45360012-45404492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1059186	chr18:45360012-45407405	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1062894	chr18:45368587-45387738	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1066394	chr18:45368587-45394386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1060581	chr18:45368587-45397623	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1057525	chr18:45368587-45407405	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1064282	chr18:45369857-45404768	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064797	chr18:45372027-45394386	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1063859	chr18:45372027-45404492	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1062318	chr18:45374239-45394780	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1055814	chr18:45374239-45395377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1057298	chr18:45374239-45404428	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1062731	chr18:45374239-45404768	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1058128	chr18:45374658-45394780	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1065607	chr18:45374658-45404751	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv961048	chr18:45377935-45380058	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv2627568	chr18:45378625-45380157	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv3322226	chr18:45379469-45379923	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv3498150	chr18:45379481-45379921	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv3498151	chr18:45379481-45379921	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv3381358	chr18:45379520-45379906	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv3426043	chr18:45379522-45379903	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv3317404	chr18:45379537-45379879	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv3331958	chr18:45379555-45379857	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv3317403	chr18:45379575-45379827	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	esv3317405	chr18:45379575-45379827	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45342200-45384200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:45347600-45381800	Weak transcription	Right Ventricle	heart
4	chr18:45353000-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45354600-45381800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:45356200-45384000	Weak transcription	Spleen	Spleen
7	chr18:45358800-45382400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:45365800-45381800	Weak transcription	Psoas Muscle	Psoas
9	chr18:45366000-45381800	Weak transcription	Aorta	Aorta
10	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
11	chr18:45366400-45384000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:45366400-45384000	Weak transcription	Brain Angular Gyrus	brain
13	chr18:45366400-45384000	Weak transcription	Esophagus	oesophagus
14	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:45368200-45384000	Weak transcription	Stomach Mucosa	stomach
16	chr18:45369000-45381800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:45369200-45381200	Weak transcription	Brain Germinal Matrix	brain
18	chr18:45369600-45380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:45369600-45381800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:45369600-45382000	Weak transcription	Fetal Brain Female	brain
21	chr18:45369800-45383600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:45369800-45384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:45369800-45384000	Weak transcription	Fetal Stomach	stomach
24	chr18:45369800-45386400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:45371600-45380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:45371600-45381200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:45371800-45381200	Weak transcription	Brain Substantia Nigra	brain
28	chr18:45371800-45382000	Weak transcription	Fetal Heart	heart
29	chr18:45371800-45382200	Weak transcription	Fetal Brain Male	brain
30	chr18:45372000-45381400	Weak transcription	Brain Hippocampus Middle	brain
31	chr18:45372000-45381800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:45372000-45384000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:45372200-45381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:45372200-45381800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr18:45372200-45381800	Weak transcription	Colon Smooth Muscle	Colon
36	chr18:45372200-45381800	Weak transcription	Lung	lung
37	chr18:45372200-45381800	Weak transcription	HSMMtube	muscle
38	chr18:45372200-45382400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:45372200-45386200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr18:45372200-45396000	Weak transcription	NHLF	lung
41	chr18:45372400-45381400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:45373000-45381800	Weak transcription	Placenta	Placenta
43	chr18:45373200-45381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:45373200-45381800	Weak transcription	Ovary	ovary
45	chr18:45373200-45381800	Weak transcription	Thymus	Thymus
46	chr18:45373200-45382000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr18:45373200-45382000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:45373200-45384000	Weak transcription	Gastric	stomach
49	chr18:45373200-45384000	Weak transcription	Pancreas	Pancrea
50	chr18:45373400-45381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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