Variant report

Variant	rs62521803
Chromosome Location	chr8:124152970-124152971
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124146952..124149281-chr8:124151497..124153020,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10111810	0.91[EUR][1000 genomes]
rs16898043	0.98[EUR][1000 genomes]
rs17315999	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17316158	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59229243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59428574	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62520601	1.00[AFR][1000 genomes]
rs62521769	1.00[AFR][1000 genomes]
rs62521770	1.00[AFR][1000 genomes]
rs62521797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521799	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521801	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62521805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521806	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521807	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521808	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73339621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73339623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73339626	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339658	0.91[AMR][1000 genomes];0.89[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	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
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
2	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
6	chr8:124086600-124168800	Weak transcription	Lung	lung
7	chr8:124096200-124168800	Weak transcription	Liver	Liver
8	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124098400-124166600	Weak transcription	Gastric	stomach
10	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
12	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
13	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:124112800-124155400	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
18	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
20	chr8:124116200-124156600	Weak transcription	NHEK	skin
21	chr8:124116400-124168800	Weak transcription	Ovary	ovary
22	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:124128600-124157000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
26	chr8:124132800-124153200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:124133800-124161000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:124134000-124160800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:124137600-124164800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:124137600-124164800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
34	chr8:124138200-124160000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:124138400-124154200	Weak transcription	NHLF	lung
36	chr8:124138400-124160000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:124138600-124159400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:124138600-124165800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:124138800-124160000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:124139000-124165600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:124139600-124159400	Strong transcription	Fetal Thymus	thymus
42	chr8:124140400-124168800	Weak transcription	Right Ventricle	heart
43	chr8:124141000-124168800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:124141800-124153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:124142600-124153000	Weak transcription	HepG2	liver
46	chr8:124142600-124168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:124142800-124155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:124144400-124158400	Weak transcription	NHDF-Ad	bronchial
49	chr8:124144400-124165800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:124145600-124168800	Weak transcription	Fetal Brain Male	brain

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