Variant report

Variant	rs10931427
Chromosome Location	chr2:190480111-190480112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4667291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60339626	1.00[AMR][1000 genomes]
rs7562466	1.00[AMR][1000 genomes]
rs7570328	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7599914	1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190476800-190480600	Enhancers	Placenta	Placenta
2	chr2:190478600-190483800	Weak transcription	HepG2	liver
3	chr2:190479000-190484000	Weak transcription	A549	lung
4	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:190479200-190484200	Weak transcription	HUVEC	blood vessel
6	chr2:190479400-190480200	Enhancers	Ovary	ovary
7	chr2:190479600-190482200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:190479600-190485200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:190479800-190483400	Weak transcription	Fetal Heart	heart
10	chr2:190480000-190483800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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