Variant report

Variant	rs7230517
Chromosome Location	chr18:44931899-44931900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083906	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10853551	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853552	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11082575	0.82[CEU][hapmap]
rs11082578	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11082579	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11082582	0.90[EUR][1000 genomes]
rs11082583	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11875780	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12955529	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12956050	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1865370	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34885067	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4407146	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7230554	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231597	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919979	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833641	chr18:44815063-45020202	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	esv1801141	chr18:44908270-44955409	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44930000-44932800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:44930000-44932800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44930400-44932000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr18:44931200-44932200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr18:44931600-44934000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:44931800-44935400	Weak transcription	H9 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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