Variant report

Variant	rs73063982
Chromosome Location	chr1:196215909-196215910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12402127	0.90[EUR][1000 genomes]
rs12407399	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12409953	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410633	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16839785	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56186308	0.81[EUR][1000 genomes]
rs56199993	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60040626	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73063979	0.88[AFR][1000 genomes]
rs73063989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065807	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73065818	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73065825	0.90[EUR][1000 genomes]
rs73065828	0.90[EUR][1000 genomes]
rs74136510	0.90[EUR][1000 genomes]
rs7529369	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7537176	0.85[EUR][1000 genomes]
rs7554401	0.90[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	nsv872948	chr1:195872295-196236425	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv872952	chr1:196174790-196304223	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv548741	chr1:196186750-196293493	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv832237	chr1:196205674-196328500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196197800-196218400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:196212000-196219000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:196213600-196219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:196213800-196216600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:196214000-196241400	Weak transcription	Liver	Liver
6	chr1:196214200-196216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:196214200-196217600	Weak transcription	Fetal Stomach	stomach
8	chr1:196214400-196220200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:196214600-196247800	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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