Variant report

Variant	rs2124795
Chromosome Location	chr4:62290717-62290718
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1037671	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10517536	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11131326	1.00[EUR][1000 genomes]
rs1350247	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1379166	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1379167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456867	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456875	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456876	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456877	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456878	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1497902	1.00[EUR][1000 genomes]
rs1497904	1.00[EUR][1000 genomes]
rs1531204	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17090502	1.00[EUR][1000 genomes]
rs17090511	1.00[EUR][1000 genomes]
rs17090512	1.00[EUR][1000 genomes]
rs17090513	1.00[EUR][1000 genomes]
rs1845582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124796	0.81[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2219342	1.00[EUR][1000 genomes]
rs2606712	0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606714	0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606716	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606717	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606718	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2606720	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2643035	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2643037	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2643038	0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2643039	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2643040	0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335274	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335275	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335276	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335278	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335280	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335281	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs335283	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335293	1.00[EUR][1000 genomes]
rs335297	1.00[EUR][1000 genomes]
rs335298	1.00[EUR][1000 genomes]
rs335326	1.00[EUR][1000 genomes]
rs335327	1.00[EUR][1000 genomes]
rs335328	1.00[EUR][1000 genomes]
rs335330	1.00[EUR][1000 genomes]
rs335331	1.00[EUR][1000 genomes]
rs335333	1.00[EUR][1000 genomes]
rs335339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335343	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335344	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4860413	1.00[EUR][1000 genomes]
rs6551630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6814707	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6823672	1.00[EUR][1000 genomes]
rs6834543	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6841033	1.00[EUR][1000 genomes]
rs7655377	1.00[EUR][1000 genomes]
rs7660777	1.00[EUR][1000 genomes]
rs7683598	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7687816	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693587	1.00[EUR][1000 genomes]
rs7693679	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7698624	1.00[EUR][1000 genomes]
rs9654273	1.00[EUR][1000 genomes]
rs991586	0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs991587	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs991588	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv879075	chr4:62124531-62354791	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv879076	chr4:62251077-62354791	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2753138	chr4:62271444-62442507	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62285800-62294800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:62289800-62290800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:62289800-62293200	Enhancers	Esophagus	oesophagus
4	chr4:62290400-62294000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:62290400-62294000	Strong transcription	Fetal Stomach	stomach
6	chr4:62290400-62294600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:62290600-62294000	Enhancers	HMEC	breast
8	chr4:62290600-62294400	Enhancers	NHEK	skin

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