Variant report

Variant	rs62445594
Chromosome Location	chr7:14645602-14645603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10277901	0.85[EUR][1000 genomes]
rs16878247	1.00[EUR][1000 genomes]
rs16878249	0.89[EUR][1000 genomes]
rs16878256	0.89[EUR][1000 genomes]
rs17168328	0.89[EUR][1000 genomes]
rs17168330	0.89[EUR][1000 genomes]
rs62445596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62445597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62445598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62445601	0.94[EUR][1000 genomes]
rs62445602	0.94[EUR][1000 genomes]
rs62445636	1.00[AMR][1000 genomes]
rs62445637	0.89[EUR][1000 genomes]
rs62445639	0.81[EUR][1000 genomes]
rs62445641	0.81[EUR][1000 genomes]
rs62445643	0.81[EUR][1000 genomes]
rs62445644	0.81[EUR][1000 genomes]
rs62448673	0.89[EUR][1000 genomes]
rs62448674	0.89[EUR][1000 genomes]
rs62448676	0.89[EUR][1000 genomes]
rs7785675	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv887710	chr7:14587948-14653702	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv887711	chr7:14619026-14671325	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1031041	chr7:14624127-14999201	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv538741	chr7:14624127-14999201	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr7:14638000-14645800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:14641600-14648800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:14644600-14645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:14644600-14646400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:14644800-14645800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:14645400-14646000	Enhancers	HMEC	breast
7	chr7:14645400-14646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:14645600-14646000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:14645600-14646000	Enhancers	Fetal Heart	heart
10	chr7:14645600-14646600	Weak transcription	hESC Derived CD56+ Mesoderm 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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