Variant report

Variant	rs73594681
Chromosome Location	chr6:128592844-128592845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11968696	1.00[AMR][1000 genomes]
rs1738286	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1738289	1.00[AMR][1000 genomes]
rs1738291	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1768348	0.85[AMR][1000 genomes]
rs1768349	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1768350	0.85[AMR][1000 genomes]
rs1768351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594656	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73594666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594682	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596645	0.85[AMR][1000 genomes]
rs73596648	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596649	0.85[AMR][1000 genomes]
rs73596651	0.85[AMR][1000 genomes]
rs73596654	0.85[AMR][1000 genomes]
rs73596655	1.00[AMR][1000 genomes]
rs73596659	0.85[AMR][1000 genomes]
rs73596661	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs982001	0.82[AFR][1000 genomes]
rs982002	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128555600-128595800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:128571200-128596200	Weak transcription	HSMMtube	muscle
3	chr6:128574000-128596200	Weak transcription	HSMM	muscle
4	chr6:128574600-128596400	Weak transcription	NH-A	brain
5	chr6:128582000-128596200	Weak transcription	NHDF-Ad	bronchial
6	chr6:128585200-128596200	Weak transcription	HMEC	breast
7	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:128585400-128598200	Weak transcription	HepG2	liver
9	chr6:128586400-128602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:128587600-128602200	Weak transcription	Fetal Intestine Large	intestine
11	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
12	chr6:128589200-128596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:128589400-128597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:128590400-128593000	Enhancers	Fetal Heart	heart
15	chr6:128592000-128593000	Enhancers	Brain Angular Gyrus	brain
16	chr6:128592000-128593000	Enhancers	Fetal Brain Female	brain
17	chr6:128592000-128593000	Enhancers	Small Intestine	intestine
18	chr6:128592200-128593000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:128592200-128593000	Enhancers	Fetal Lung	lung
20	chr6:128592200-128593000	Enhancers	Left Ventricle	heart
21	chr6:128592200-128593000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:128592200-128593200	Enhancers	Osteobl	bone
23	chr6:128592400-128593000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:128592400-128593000	Enhancers	Brain Anterior Caudate	brain
25	chr6:128592400-128593000	Enhancers	Ovary	ovary
26	chr6:128592400-128593000	Enhancers	Stomach Mucosa	stomach
27	chr6:128592400-128593000	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:128592600-128593000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:128592600-128593000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:128592600-128593200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:128592600-128593200	Enhancers	NHLF	lung
32	chr6:128592600-128599200	Weak transcription	Fetal Brain Male	brain
33	chr6:128592800-128593000	Enhancers	Thymus	Thymus
34	chr6:128592800-128595800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:128592800-128595800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:128592800-128596000	Weak transcription	Liver	Liver
37	chr6:128592800-128596200	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:128592800-128596600	Weak transcription	Brain Substantia Nigra	brain
39	chr6:128592800-128598200	Weak transcription	Fetal Stomach	stomach
40	chr6:128592800-128598400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:128592800-128602200	Weak transcription	Psoas Muscle	Psoas
42	chr6:128592800-128605200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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