Variant report

Variant	rs4913391
Chromosome Location	chr12:68410773-68410774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56370523	0.97[ASN][1000 genomes]
rs57172552	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57346651	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315219	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73324874	0.85[ASN][1000 genomes]
rs73324884	0.97[ASN][1000 genomes]
rs73324885	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73324894	0.85[ASN][1000 genomes]
rs7975682	0.89[AFR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68392600-68413800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:68398400-68422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:68406000-68425200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:68406200-68411800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:68406200-68413800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:68406400-68426000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:68407600-68413400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:68409200-68412000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:68409400-68412000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:68410000-68410800	Enhancers	Psoas Muscle	Psoas
11	chr12:68410000-68411400	Strong transcription	Primary B cells from peripheral blood	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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