Variant report

Variant	rs7001356
Chromosome Location	chr8:54964078-54964079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs59549579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7018154	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818005	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:54944000-54966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
6	chr8:54947200-54964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
8	chr8:54949800-54999400	Weak transcription	NHLF	lung
9	chr8:54951400-54964800	Weak transcription	Fetal Kidney	kidney
10	chr8:54954000-54973800	Weak transcription	Right Ventricle	heart
11	chr8:54954800-54964800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:54955000-54968000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:54955000-54968400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:54955400-54964400	Weak transcription	Ovary	ovary
16	chr8:54955400-54965000	Weak transcription	Fetal Brain Male	brain
17	chr8:54955400-54970400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:54955400-54978400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:54955600-54966000	Weak transcription	Psoas Muscle	Psoas
20	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:54956400-54964800	Weak transcription	Gastric	stomach
22	chr8:54956400-54974200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:54956600-54977800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:54957200-54965200	Weak transcription	Spleen	Spleen
26	chr8:54957200-54968600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:54957200-54973800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:54957400-54964400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:54957400-54964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:54957400-54964400	Weak transcription	Lung	lung
32	chr8:54957400-54964800	Weak transcription	Pancreas	Pancrea
33	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
34	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:54959400-54967800	Strong transcription	Liver	Liver
36	chr8:54959600-54967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:54960000-54978600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:54960200-54968000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:54960400-54967400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:54960400-54967800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:54960400-54970400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:54960600-54966600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:54960600-54967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:54960600-54967400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:54960600-54967400	Strong transcription	HepG2	liver
47	chr8:54960600-54967600	Strong transcription	Primary T cells from cord blood	blood
48	chr8:54960600-54967600	Strong transcription	Dnd41	blood
49	chr8:54960600-54968200	Strong transcription	Primary B cells from cord blood	blood
50	chr8:54960600-54968400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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