Variant report

Variant	rs56403300
Chromosome Location	chr5:52760980-52760981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11951646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11952100	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11957312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11958349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11960383	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1363966	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1423548	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1423550	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1423551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17243137	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1862606	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1862607	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1978463	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1978464	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1978465	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3943928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55658556	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55662636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55663236	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56005425	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56061476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56144882	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56170221	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56261541	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56266381	0.81[AMR][1000 genomes]
rs56276302	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56392803	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56405129	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62357795	0.81[AMR][1000 genomes]
rs62357821	0.81[AMR][1000 genomes]
rs62357822	0.81[AMR][1000 genomes]
rs62357823	0.81[AMR][1000 genomes]
rs62357824	0.81[AMR][1000 genomes]
rs62357826	0.81[AMR][1000 genomes]
rs62357828	0.81[AMR][1000 genomes]
rs62357835	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62359262	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62359266	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62359268	0.82[AMR][1000 genomes]
rs62359276	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62359282	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62359311	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62359317	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62359318	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62359319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62359324	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62359325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62370471	0.83[ASN][1000 genomes]
rs62370472	0.83[ASN][1000 genomes]
rs62370473	0.83[ASN][1000 genomes]
rs62370474	0.83[ASN][1000 genomes]
rs62370476	0.83[ASN][1000 genomes]
rs72748110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72748111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52759400-52761000	Enhancers	Fetal Heart	heart
2	chr5:52759400-52761000	Enhancers	HSMM	muscle
3	chr5:52759600-52761800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:52759600-52762000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:52759800-52761000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:52760000-52761200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:52760200-52765400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:52760200-52765600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:52760400-52761000	Enhancers	Brain Hippocampus Middle	brain
10	chr5:52760600-52761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:52760600-52761000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr5:52760600-52761000	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr5:52760600-52765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52760600-52765400	Weak transcription	NHLF	lung
15	chr5:52760800-52762200	Enhancers	HepG2	liver
16	chr5:52760800-52763600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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