Variant report

Variant	rs34438994
Chromosome Location	chr12:48325843-48325844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10875698	1.00[EUR][1000 genomes]
rs11168303	1.00[EUR][1000 genomes]
rs11168304	1.00[EUR][1000 genomes]
rs4077869	1.00[EUR][1000 genomes]
rs4411327	1.00[EUR][1000 genomes]
rs4514490	1.00[EUR][1000 genomes]
rs57419443	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58915362	1.00[EUR][1000 genomes]
rs61553170	1.00[EUR][1000 genomes]
rs7302038	1.00[EUR][1000 genomes]
rs7975847	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr12:48325800-48326000	Enhancers	HSMMtube	muscle
2	chr12:48325800-48328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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