Variant report

Variant	rs71513808
Chromosome Location	chr8:20984778-20984779
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	chr8:20984570..20986928-chr8:20991210..20994043,2	K562	blood:
2	chr8:20983096..20985679-chr8:20989458..20991827,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1015379	0.83[AMR][1000 genomes]
rs12543521	1.00[ASN][1000 genomes]
rs13252980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13274991	1.00[ASN][1000 genomes]
rs13276572	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13281706	0.83[AMR][1000 genomes]
rs1460975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1460979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1554459	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17093549	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093555	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17093564	1.00[ASN][1000 genomes]
rs17093578	1.00[ASN][1000 genomes]
rs17423926	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424247	0.83[AFR][1000 genomes]
rs17495702	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17495757	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495792	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17495898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1841509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34074802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34224528	1.00[ASN][1000 genomes]
rs34226603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34265291	0.86[AFR][1000 genomes]
rs34284335	0.83[AFR][1000 genomes]
rs34702848	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34757817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882429	1.00[AFR][1000 genomes]
rs34883006	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34914411	1.00[AFR][1000 genomes]
rs34969903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35057769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35057973	1.00[ASN][1000 genomes]
rs35102574	0.86[AFR][1000 genomes]
rs35106026	1.00[AFR][1000 genomes]
rs35248934	1.00[ASN][1000 genomes]
rs35325460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35356390	0.86[AFR][1000 genomes]
rs35417410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35425497	1.00[AFR][1000 genomes]
rs35484396	0.83[AFR][1000 genomes]
rs35549782	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35698958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35703133	1.00[AMR][1000 genomes];0.96[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];1.00[ASN][1000 genomes]
rs35853955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35888205	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899724	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36033917	0.86[AFR][1000 genomes]
rs36082431	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096496	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117371	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36183284	1.00[AFR][1000 genomes]
rs4582551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66823428	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67413955	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67922235	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71512802	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs71513804	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71513806	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71513810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71513815	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73623456	0.90[EUR][1000 genomes];1.00[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20982000-20989600	Enhancers	Fetal Heart	heart
2	chr8:20982200-20985600	Enhancers	Pancreas	Pancrea
3	chr8:20982400-20984800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:20982800-20986400	Weak transcription	Fetal Thymus	thymus
5	chr8:20983400-20986400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:20983400-20986400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:20983400-20986800	Weak transcription	Primary T cells from cord blood	blood
8	chr8:20983400-20987000	Weak transcription	Lung	lung
9	chr8:20983400-20987200	Weak transcription	Right Atrium	heart
10	chr8:20983600-20986200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:20983800-20984800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:20984000-20984800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:20984000-20986400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:20984200-20984800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:20984400-20985000	Weak transcription	Left Ventricle	heart
16	chr8:20984400-20987600	Weak transcription	Brain Germinal Matrix	brain
17	chr8:20984600-20986000	Weak transcription	Right Ventricle	heart
18	chr8:20984600-20986400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:20984600-20987200	Weak transcription	Gastric	stomach

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