Variant report

Variant	rs4649971
Chromosome Location	chr1:73394644-73394645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10789352	1.00[ASN][1000 genomes]
rs11210098	1.00[ASN][1000 genomes]
rs11210132	1.00[ASN][1000 genomes]
rs3122928	1.00[ASN][1000 genomes]
rs4233095	1.00[ASN][1000 genomes]
rs4233102	1.00[ASN][1000 genomes]
rs4233104	1.00[ASN][1000 genomes]
rs4523477	1.00[ASN][1000 genomes]
rs4562574	1.00[ASN][1000 genomes]
rs4609383	1.00[ASN][1000 genomes]
rs4650169	0.83[AMR][1000 genomes]
rs4650171	1.00[ASN][1000 genomes]
rs6658087	1.00[ASN][1000 genomes]
rs7339900	1.00[ASN][1000 genomes]
rs7340009	1.00[ASN][1000 genomes]

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	nsv1013549	chr1:73209040-73408373	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012319	chr1:73337418-73547086	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73391600-73395600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:73392400-73396000	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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