Variant report

Variant	rs73063993
Chromosome Location	chr1:196235532-196235533
allele	C/T
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	1.00[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	0.83[AFR][1000 genomes]
rs73063982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063989	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	0.91[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196214000-196241400	Weak transcription	Liver	Liver
2	chr1:196214600-196247800	Weak transcription	Ovary	ovary
3	chr1:196234200-196235800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:196234800-196236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:196234800-196248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:196234800-196252200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:196235000-196236000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:196235000-196236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:196235000-196236400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:196235200-196235600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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