Variant report

Variant	rs57801020
Chromosome Location	chr3:23487607-23487608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11129114	0.80[ASN][1000 genomes]
rs11914576	0.90[ASN][1000 genomes]
rs11916447	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11919065	0.90[ASN][1000 genomes]
rs11921580	0.81[ASN][1000 genomes]
rs11926217	0.91[ASN][1000 genomes]
rs11928344	0.80[ASN][1000 genomes]
rs12630883	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12633613	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12634459	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12636682	0.80[ASN][1000 genomes]
rs17013412	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17343818	0.80[ASN][1000 genomes]
rs17403650	0.81[ASN][1000 genomes]
rs1826847	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1908772	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2133330	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34710747	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4399836	0.86[EUR][1000 genomes]
rs4642064	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55666330	0.93[ASN][1000 genomes]
rs55732421	0.93[ASN][1000 genomes]
rs55934161	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56964757	0.90[ASN][1000 genomes]
rs57172051	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57234542	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57258152	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57278918	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57604595	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57624654	0.82[ASN][1000 genomes]
rs57869672	0.81[ASN][1000 genomes]
rs58068931	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58486254	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59580282	0.90[ASN][1000 genomes]
rs60221455	0.91[ASN][1000 genomes]
rs60759404	0.90[ASN][1000 genomes]
rs6550761	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6762615	0.80[ASN][1000 genomes]
rs6763074	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6778020	0.92[ASN][1000 genomes]
rs6778478	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6781388	0.87[ASN][1000 genomes]
rs6799118	0.89[ASN][1000 genomes]
rs6799234	0.86[EUR][1000 genomes]
rs6804201	0.84[EUR][1000 genomes]
rs6807390	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6807788	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73043636	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73043687	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73045615	0.90[ASN][1000 genomes]
rs73045617	0.91[ASN][1000 genomes]
rs73045660	0.90[ASN][1000 genomes]
rs7428484	0.80[ASN][1000 genomes]
rs7610906	0.94[ASN][1000 genomes]
rs7610971	0.81[ASN][1000 genomes]
rs7613733	0.81[ASN][1000 genomes]
rs7613969	0.80[ASN][1000 genomes]
rs7614926	0.80[ASN][1000 genomes]
rs7617659	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7620266	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7622913	0.80[ASN][1000 genomes]
rs7631705	0.90[ASN][1000 genomes]
rs7632520	0.80[ASN][1000 genomes]
rs7632814	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7635784	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7636536	0.80[ASN][1000 genomes]
rs7638405	0.80[ASN][1000 genomes]
rs7640458	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7643270	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7646505	0.80[ASN][1000 genomes]
rs7651175	0.80[ASN][1000 genomes]
rs903518	0.80[ASN][1000 genomes]
rs9812300	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9825835	0.80[ASN][1000 genomes]
rs9835324	0.81[EUR][1000 genomes]
rs9854488	0.86[EUR][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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23472800-23488000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:23473800-23494000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23477800-23487800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:23478600-23489400	Weak transcription	Left Ventricle	heart
5	chr3:23479800-23490200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:23483200-23491200	Weak transcription	Psoas Muscle	Psoas
7	chr3:23484800-23487800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:23484800-23487800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:23484800-23488400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:23484800-23496000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:23484800-23496000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:23485000-23487800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:23485200-23490200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:23485200-23490600	Weak transcription	Primary B cells from cord blood	blood
15	chr3:23485200-23496400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:23485200-23498600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr3:23486200-23488200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:23486200-23488400	Weak transcription	GM12878-XiMat	blood
19	chr3:23486200-23494000	Weak transcription	HSMMtube	muscle
20	chr3:23486800-23488600	Enhancers	Fetal Heart	heart
21	chr3:23487200-23491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:23487600-23488000	Enhancers	Right Ventricle	heart

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