Variant report

Variant	rs73594679
Chromosome Location	chr6:128591997-128591998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11968696	1.00[AMR][1000 genomes]
rs1738279	0.81[AFR][1000 genomes]
rs1738286	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1738289	1.00[AMR][1000 genomes]
rs1738291	0.85[AMR][1000 genomes]
rs1768348	0.85[AMR][1000 genomes]
rs1768349	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1768350	0.85[AMR][1000 genomes]
rs1768351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594656	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73594666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594682	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596645	0.85[AMR][1000 genomes]
rs73596648	0.93[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	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs982001	0.86[AFR][1000 genomes]
rs982002	0.86[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	chr6:128568000-128592000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:128571200-128596200	Weak transcription	HSMMtube	muscle
4	chr6:128574000-128592200	Weak transcription	Gastric	stomach
5	chr6:128574000-128596200	Weak transcription	HSMM	muscle
6	chr6:128574400-128592600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:128574600-128596400	Weak transcription	NH-A	brain
8	chr6:128580000-128592400	Weak transcription	Right Ventricle	heart
9	chr6:128580400-128592000	Weak transcription	Small Intestine	intestine
10	chr6:128581200-128592600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:128581600-128592600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:128582000-128592200	Weak transcription	Osteobl	bone
13	chr6:128582000-128596200	Weak transcription	NHDF-Ad	bronchial
14	chr6:128583200-128592600	Weak transcription	Thymus	Thymus
15	chr6:128584400-128592200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:128584400-128592200	Weak transcription	Left Ventricle	heart
17	chr6:128585200-128592400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:128585200-128592400	Weak transcription	Fetal Stomach	stomach
19	chr6:128585200-128596200	Weak transcription	HMEC	breast
20	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:128585400-128592200	Weak transcription	Fetal Thymus	thymus
22	chr6:128585400-128592400	Weak transcription	Pancreas	Pancrea
23	chr6:128585400-128598200	Weak transcription	HepG2	liver
24	chr6:128586400-128602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:128587000-128592400	Weak transcription	Stomach Mucosa	stomach
26	chr6:128587400-128592400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:128587600-128592600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:128587600-128602200	Weak transcription	Fetal Intestine Large	intestine
29	chr6:128588000-128592400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:128588000-128592400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
32	chr6:128588600-128592400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:128588600-128592400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:128588800-128592200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:128589200-128596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:128589400-128597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:128590400-128592200	Weak transcription	Brain Substantia Nigra	brain
38	chr6:128590400-128593000	Enhancers	Fetal Heart	heart
39	chr6:128590600-128592200	Weak transcription	Psoas Muscle	Psoas
40	chr6:128591000-128592200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:128591000-128592400	Weak transcription	Ovary	ovary
42	chr6:128591800-128592800	Enhancers	Liver	Liver

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