Variant report

Variant	rs62258010
Chromosome Location	chr3:80819789-80819790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:80812088..80814411-chr3:80818425..80820438,3	K562	blood:

Variant related genes	Relation type
ENSG00000242781	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12485625	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320910	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13318177	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13324031	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437046	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1520589	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1520590	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17280627	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2139685	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28490262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28717382	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28885819	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4270470	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs500298	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs528897	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs571776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs584597	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs588001	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs613707	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs619305	0.84[EUR][1000 genomes]
rs62258009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62259248	0.90[ASN][1000 genomes]
rs627529	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs704464	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7617921	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7633748	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7639808	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7643304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs878245	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9818650	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9832758	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9881573	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004115	chr3:80349665-81043308	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv536601	chr3:80349665-81043308	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1067580	chr3:80416729-81043307	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv492220	chr3:80416729-81043307	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1000592	chr3:80422155-81044175	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv527598	chr3:80585455-81250663	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv877038	chr3:80781726-80984958	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1846627	chr3:80791380-80912454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1003078	chr3:80818409-80948129	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3439229	chr3:80818862-80820710	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2057776	chr3:80819424-80819817	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv877039	chr3:80819678-81062618	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80816200-80822200	Active TSS	K562	blood
2	chr3:80816800-80820400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:80817000-80821200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:80817200-80819800	Active TSS	Placenta	Placenta
5	chr3:80817400-80820800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:80818000-80820800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:80818200-80820600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:80818400-80820600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:80818400-80820600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:80818400-80820800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:80818600-80820600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:80818600-80820800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:80818800-80820200	Active TSS	Right Ventricle	heart
14	chr3:80818800-80820400	Active TSS	Fetal Stomach	stomach
15	chr3:80818800-80820400	Active TSS	Thymus	Thymus
16	chr3:80819000-80820200	Active TSS	Fetal Muscle Leg	muscle
17	chr3:80819000-80820400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr3:80819200-80820000	ZNF genes & repeats	Pancreas	Pancrea
19	chr3:80819200-80820600	Active TSS	Fetal Thymus	thymus
20	chr3:80819600-80820400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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