Variant report

Variant	rs28813536
Chromosome Location	chr8:54987434-54987435
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10095679	0.84[AFR][1000 genomes]
rs10101967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	1.00[AMR][1000 genomes]
rs28620338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv967590	chr8:54980634-54991502	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
2	chr8:54949800-54999400	Weak transcription	NHLF	lung
3	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
9	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
12	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
13	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
14	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
16	chr8:54966400-54991800	Weak transcription	NH-A	brain
17	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
18	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
19	chr8:54966600-54991800	Weak transcription	Osteobl	bone
20	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:54967200-54999200	Weak transcription	Ovary	ovary
23	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:54974600-54991000	Weak transcription	K562	blood
25	chr8:54974600-54991600	Weak transcription	Thymus	Thymus
26	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
27	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
28	chr8:54974800-54989600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:54974800-54991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:54974800-54991400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:54974800-54991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:54974800-54991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:54974800-55002200	Weak transcription	Gastric	stomach
35	chr8:54975400-54991000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:54975800-54991000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:54975800-54999200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:54975800-54999600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:54976200-54990800	Weak transcription	Fetal Thymus	thymus
41	chr8:54976200-54991000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:54976200-54991000	Weak transcription	Left Ventricle	heart
43	chr8:54976400-54991200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:54976400-54991400	Weak transcription	Hela-S3	cervix
45	chr8:54977200-54991600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:54977400-54990800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:54977400-54991600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:54977600-54989600	Weak transcription	HMEC	breast
49	chr8:54977600-54991200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:54977800-54989400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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