Variant report

Variant	rs62521769
Chromosome Location	chr8:124102949-124102950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124102688..124105336-chr8:124111816..124114420,2	K562	blood:
2	chr8:124098071..124099602-chr8:124102319..124104778,2	MCF-7	breast:
3	chr8:124101511..124104352-chr8:124116261..124118453,2	MCF-7	breast:
4	chr8:124101865..124103695-chr8:124134066..124136996,2	K562	blood:

Variant related genes	Relation type
ENSG00000156787	Chromatin interaction
ENSG00000253463	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10105355	1.00[ASN][1000 genomes]
rs4489325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57815619	0.82[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]
rs62520599	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520600	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62520601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521770	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521775	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521778	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521797	0.87[AFR][1000 genomes]
rs62521799	0.87[AFR][1000 genomes]
rs62521801	0.87[AFR][1000 genomes]
rs62521803	1.00[AFR][1000 genomes]
rs73337868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337885	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337894	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339621	1.00[AFR][1000 genomes]
rs73339623	0.87[AFR][1000 genomes]
rs73339626	0.87[AFR][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:114 , 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	chr8:124086000-124108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:124086000-124109600	Weak transcription	HMEC	breast
4	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:124086000-124112400	Weak transcription	NH-A	brain
6	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
7	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
8	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
13	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
15	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:124086200-124115800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
20	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
23	chr8:124086400-124112000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
25	chr8:124086600-124168800	Weak transcription	Lung	lung
26	chr8:124086800-124114000	Weak transcription	Psoas Muscle	Psoas
27	chr8:124087000-124110200	Weak transcription	Brain Germinal Matrix	brain
28	chr8:124087200-124112400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
30	chr8:124088600-124115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:124089400-124116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:124094200-124111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:124095200-124107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:124095600-124111600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:124095600-124118000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:124095800-124142800	Weak transcription	Fetal Intestine Small	intestine
37	chr8:124096200-124112800	Weak transcription	HSMM	muscle
38	chr8:124096200-124168800	Weak transcription	Liver	Liver
39	chr8:124096400-124118000	Weak transcription	Brain Anterior Caudate	brain
40	chr8:124096600-124108400	Weak transcription	HepG2	liver
41	chr8:124096600-124110000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:124096600-124111600	Weak transcription	Fetal Brain Female	brain
43	chr8:124096600-124114000	Weak transcription	Fetal Lung	lung
44	chr8:124096600-124115800	Weak transcription	NHLF	lung
45	chr8:124096800-124110000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:124096800-124111000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:124096800-124113200	Weak transcription	Adipose Nuclei	Adipose
48	chr8:124096800-124113400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:124097000-124108400	Weak transcription	NHEK	skin
50	chr8:124097000-124109400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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