Variant report

Variant	rs62474594
Chromosome Location	chr7:122012143-122012144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17463319	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62474592	0.81[EUR][1000 genomes]
rs62474593	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62474596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7804733	0.83[AFR][1000 genomes]
rs929295	0.86[AMR][1000 genomes];0.84[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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121957400-122051200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:121980800-122018600	Weak transcription	Left Ventricle	heart
3	chr7:121998200-122025600	Weak transcription	Fetal Lung	lung
4	chr7:122003200-122061000	Weak transcription	Aorta	Aorta
5	chr7:122003600-122012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:122003600-122013200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:122007400-122073000	Weak transcription	Lung	lung
8	chr7:122010200-122017600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:122010400-122013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:122010400-122017600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:122010400-122024000	Weak transcription	Ovary	ovary
12	chr7:122012000-122012800	Enhancers	ES-UCSF4 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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