Variant report

Variant	rs3125634
Chromosome Location	chr1:47785542-47785543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11211514	0.83[ASN][1000 genomes]
rs3122618	0.82[ASN][1000 genomes]
rs7532785	0.82[ASN][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	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
2	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
3	chr1:47780800-47789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:47780800-47791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:47783800-47787800	Weak transcription	HepG2	liver
7	chr1:47785000-47786000	Enhancers	K562	blood

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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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