Variant report

Variant	rs982000
Chromosome Location	chr6:128585079-128585080
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1738276	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1738277	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1738278	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1738279	0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1738285	1.00[AMR][1000 genomes]
rs1738286	0.87[AMR][1000 genomes]
rs1738291	0.87[AMR][1000 genomes]
rs1768348	0.87[AMR][1000 genomes]
rs1768349	0.87[AMR][1000 genomes]
rs1768350	0.87[AMR][1000 genomes]
rs1768352	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1768353	0.94[YRI][hapmap]
rs1768356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1768357	0.88[YRI][hapmap]
rs1768359	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55958764	1.00[AMR][1000 genomes]
rs73592688	1.00[AMR][1000 genomes]
rs73592691	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594656	0.87[AMR][1000 genomes]
rs73594682	0.87[AMR][1000 genomes]
rs73596645	0.87[AMR][1000 genomes]
rs73596648	0.87[AMR][1000 genomes]
rs73596649	0.87[AMR][1000 genomes]
rs73596651	0.87[AMR][1000 genomes]
rs73596654	0.87[AMR][1000 genomes]
rs73596659	0.87[AMR][1000 genomes]
rs73596661	0.87[AMR][1000 genomes]
rs73772021	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs981999	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs982001	0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs982002	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][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:45 , 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	chr6:128561400-128587000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:128562800-128588200	Weak transcription	HUVEC	blood vessel
4	chr6:128563000-128585400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:128564400-128588600	Weak transcription	NHEK	skin
6	chr6:128568000-128592000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:128571200-128596200	Weak transcription	HSMMtube	muscle
8	chr6:128574000-128588200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:128574000-128592200	Weak transcription	Gastric	stomach
10	chr6:128574000-128596200	Weak transcription	HSMM	muscle
11	chr6:128574400-128592600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:128574600-128596400	Weak transcription	NH-A	brain
13	chr6:128574800-128587200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:128580000-128589000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:128580000-128592400	Weak transcription	Right Ventricle	heart
16	chr6:128580400-128592000	Weak transcription	Small Intestine	intestine
17	chr6:128580600-128587800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:128581200-128592600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:128581600-128587200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:128581600-128592600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:128582000-128592200	Weak transcription	Osteobl	bone
22	chr6:128582000-128596200	Weak transcription	NHDF-Ad	bronchial
23	chr6:128582200-128585600	Weak transcription	Primary T cells from cord blood	blood
24	chr6:128582200-128588200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:128582800-128586000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:128583200-128588000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:128583200-128592600	Weak transcription	Thymus	Thymus
28	chr6:128583400-128585400	Strong transcription	HepG2	liver
29	chr6:128584000-128585200	Strong transcription	Fetal Intestine Small	intestine
30	chr6:128584200-128585200	Strong transcription	Liver	Liver
31	chr6:128584200-128585400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:128584200-128585400	Strong transcription	Fetal Thymus	thymus
33	chr6:128584200-128587600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:128584400-128585200	Strong transcription	HMEC	breast
35	chr6:128584400-128585400	Strong transcription	Pancreas	Pancrea
36	chr6:128584400-128589200	Weak transcription	Placenta	Placenta
37	chr6:128584400-128592200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:128584400-128592200	Weak transcription	Left Ventricle	heart
39	chr6:128584800-128585200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:128584800-128585200	Strong transcription	Fetal Stomach	stomach
41	chr6:128584800-128585200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:128584800-128585600	Strong transcription	Fetal Intestine Large	intestine
43	chr6:128584800-128587000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:128584800-128587400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr6:128585000-128586400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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