Variant report

Variant	rs71513810
Chromosome Location	chr8:20987254-20987255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20986575..20987388-chr8:21641622..21642126,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1015379	0.83[AMR][1000 genomes]
rs13252980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13261360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276572	0.83[AMR][1000 genomes]
rs13281706	0.83[AMR][1000 genomes]
rs1460974	1.00[ASN][1000 genomes]
rs1460975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1460979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1554459	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17093549	0.83[AMR][1000 genomes]
rs17093555	0.83[AMR][1000 genomes]
rs17423926	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17424247	0.83[AFR][1000 genomes]
rs17495702	1.00[AMR][1000 genomes]
rs17495757	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17495792	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17495841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17495898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1841509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34074802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34226603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34265291	0.86[AFR][1000 genomes]
rs34284335	0.83[AFR][1000 genomes]
rs34702848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34757817	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34882429	1.00[AFR][1000 genomes]
rs34883006	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34914411	1.00[AFR][1000 genomes]
rs34969903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35057769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35102574	0.86[AFR][1000 genomes]
rs35106026	1.00[AFR][1000 genomes]
rs35325460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35356390	0.86[AFR][1000 genomes]
rs35417410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35425497	1.00[AFR][1000 genomes]
rs35484396	0.83[AFR][1000 genomes]
rs35549782	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35627243	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35698958	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35703133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35741465	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35789651	1.00[AFR][1000 genomes]
rs35816769	0.83[AMR][1000 genomes]
rs35853955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35888205	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35899724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36033917	0.86[AFR][1000 genomes]
rs36082431	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36096496	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36117371	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36183284	1.00[AFR][1000 genomes]
rs4582551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66823428	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67413955	0.83[AMR][1000 genomes]
rs67922235	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71512802	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71513804	0.83[AMR][1000 genomes]
rs71513806	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71513807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71513808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71513809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513815	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73623456	0.87[EUR][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	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20982000-20989600	Enhancers	Fetal Heart	heart
2	chr8:20984400-20987600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:20986000-20988400	Enhancers	Right Ventricle	heart
4	chr8:20986400-20987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:20986400-20988200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:20986400-20988400	Enhancers	Aorta	Aorta
7	chr8:20986400-20988600	Enhancers	Fetal Thymus	thymus
8	chr8:20986400-20989000	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:20986400-20989000	Enhancers	Left Ventricle	heart
10	chr8:20986400-20989600	Enhancers	Fetal Muscle Leg	muscle
11	chr8:20986600-20988000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:20986800-20988400	Enhancers	Primary T cells from cord blood	blood
13	chr8:20986800-20989200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:20986800-20989200	Enhancers	Colon Smooth Muscle	Colon
15	chr8:20987000-20987400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:20987000-20988000	Enhancers	Pancreas	Pancrea
17	chr8:20987000-20988200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:20987000-20988400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:20987000-20988800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:20987000-20988800	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:20987000-20988800	Enhancers	Psoas Muscle	Psoas
22	chr8:20987000-20989000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:20987000-20989000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:20987000-20989600	Enhancers	Lung	lung
25	chr8:20987200-20987400	Enhancers	Gastric	stomach
26	chr8:20987200-20987600	Enhancers	Placenta	Placenta
27	chr8:20987200-20988000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr8:20987200-20988200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:20987200-20988200	Enhancers	Right Atrium	heart
30	chr8:20987200-20988400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:20987200-20988800	Enhancers	Brain Hippocampus Middle	brain
32	chr8:20987200-20988800	Enhancers	Fetal Stomach	stomach

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