Variant report

Variant	rs62548418
Chromosome Location	chr9:18608117-18608118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16936895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41311420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61306632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62548414	0.88[AFR][1000 genomes]
rs62548417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73644621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73644622	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv428536	chr9:18512807-18667760	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv6496	chr9:18586934-18609801	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv831523	chr9:18592398-18753451	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18606000-18611200	Weak transcription	Fetal Brain Female	brain
2	chr9:18606000-18611800	Weak transcription	Fetal Brain Male	brain
3	chr9:18606200-18611000	Weak transcription	Fetal Heart	heart
4	chr9:18606200-18624400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:18606600-18632200	Weak transcription	NHLF	lung
6	chr9:18606800-18608400	Weak transcription	NH-A	brain
7	chr9:18606800-18610600	Weak transcription	Brain Angular Gyrus	brain
8	chr9:18606800-18611200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:18607000-18608400	Weak transcription	Brain Substantia Nigra	brain
10	chr9:18607000-18608600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:18607000-18610600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:18607000-18611000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:18607000-18611200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:18607000-18614000	Weak transcription	Right Atrium	heart
15	chr9:18607200-18608400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:18607200-18610600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:18607200-18610600	Weak transcription	Fetal Stomach	stomach
18	chr9:18607200-18611000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:18607200-18611200	Weak transcription	Aorta	Aorta
20	chr9:18607200-18611200	Weak transcription	Brain Germinal Matrix	brain
21	chr9:18607200-18611200	Weak transcription	Fetal Lung	lung
22	chr9:18607200-18611800	Weak transcription	NHDF-Ad	bronchial
23	chr9:18607200-18622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:18607400-18608200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:18607400-18608400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:18607400-18608400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:18607400-18608400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:18607400-18608400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:18607400-18608400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:18607400-18608400	Weak transcription	HSMM	muscle
31	chr9:18607400-18610000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:18607400-18610400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:18607400-18610600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:18607400-18610600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:18607400-18610600	Weak transcription	HSMMtube	muscle
36	chr9:18607400-18611000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:18607400-18611200	Weak transcription	Colon Smooth Muscle	Colon
38	chr9:18607400-18622200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:18608000-18608200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:18608000-18608200	Genic enhancers	Osteobl	bone
41	chr9:18608000-18609200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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