Variant report

Variant	rs60834806
Chromosome Location	chr8:54979303-54979304
allele	C/T
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:17)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.96[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7001356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018154	0.82[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
3	chr8:54949800-54999400	Weak transcription	NHLF	lung
4	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
8	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
11	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
15	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
16	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
17	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
19	chr8:54966400-54991800	Weak transcription	NH-A	brain
20	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
21	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
22	chr8:54966600-54983000	Weak transcription	Brain Germinal Matrix	brain
23	chr8:54966600-54991800	Weak transcription	Osteobl	bone
24	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:54967200-54983200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54967200-54983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:54967200-54999200	Weak transcription	Ovary	ovary
29	chr8:54967600-54981000	Weak transcription	HSMM	muscle
30	chr8:54970200-54980000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:54970200-54981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:54970400-54983400	Weak transcription	Fetal Lung	lung
33	chr8:54970400-54983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:54974400-54982200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:54974400-54985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:54974600-54982800	Weak transcription	Fetal Brain Female	brain
38	chr8:54974600-54985200	Weak transcription	Lung	lung
39	chr8:54974600-54991000	Weak transcription	K562	blood
40	chr8:54974600-54991600	Weak transcription	Thymus	Thymus
41	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
42	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
43	chr8:54974800-54982400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:54974800-54983600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:54974800-54985600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:54974800-54987400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:54974800-54989600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:54974800-54991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:54974800-54991400	Weak transcription	Adipose Nuclei	Adipose
50	chr8:54974800-54991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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