Variant report

Variant	rs62520599
Chromosome Location	chr8:124095147-124095148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124084715..124088228-chr8:124092859..124096035,4	K562	blood:

Variant related genes	Relation type
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10105355	1.00[ASN][1000 genomes]
rs4489325	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57815619	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59697406	1.00[ASN][1000 genomes]
rs62520595	1.00[ASN][1000 genomes]
rs62520596	1.00[ASN][1000 genomes]
rs62520600	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520601	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521769	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521770	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521771	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521772	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521773	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521775	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521778	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337868	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337885	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337894	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341743	1.00[ASN][1000 genomes]
rs73703793	1.00[ASN][1000 genomes]
rs73703796	1.00[ASN][1000 genomes]
rs73703800	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
2	chr8:124086000-124095200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:124086000-124095200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:124086000-124095200	Weak transcription	Left Ventricle	heart
5	chr8:124086000-124095400	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:124086000-124097400	Weak transcription	Osteobl	bone
7	chr8:124086000-124098400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:124086000-124108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:124086000-124109600	Weak transcription	HMEC	breast
10	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:124086000-124112400	Weak transcription	NH-A	brain
12	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
14	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
16	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
19	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
21	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:124086200-124096000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:124086200-124096000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:124086200-124096200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:124086200-124098600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124086200-124100000	Weak transcription	Placenta	Placenta
29	chr8:124086200-124115800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
31	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
34	chr8:124086400-124098000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:124086400-124112000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
37	chr8:124086600-124168800	Weak transcription	Lung	lung
38	chr8:124086800-124114000	Weak transcription	Psoas Muscle	Psoas
39	chr8:124087000-124110200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:124087200-124095200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:124087200-124095400	Weak transcription	Fetal Heart	heart
42	chr8:124087200-124096200	Weak transcription	Hela-S3	cervix
43	chr8:124087200-124096200	Weak transcription	NHLF	lung
44	chr8:124087200-124097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:124087200-124098200	Weak transcription	NHDF-Ad	bronchial
46	chr8:124087200-124098400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:124087200-124098400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:124087200-124112400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
50	chr8:124087400-124096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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