Variant report

Variant	rs72944421
Chromosome Location	chr2:40077352-40077353
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17024422	1.00[AMR][1000 genomes]
rs17024436	1.00[AMR][1000 genomes]
rs17024445	1.00[AMR][1000 genomes]
rs72944409	1.00[AMR][1000 genomes]
rs72944411	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40073400-40077800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:40073400-40078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:40076200-40080000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:40076400-40079000	Enhancers	Dnd41	blood
5	chr2:40076600-40077400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:40077000-40077800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:40077000-40077800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:40077000-40077800	Enhancers	Fetal Thymus	thymus
9	chr2:40077000-40077800	Enhancers	HMEC	breast
10	chr2:40077000-40078600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:40077200-40077400	Enhancers	Ovary	ovary
12	chr2:40077200-40077400	Enhancers	Stomach Mucosa	stomach
13	chr2:40077200-40078200	Enhancers	HSMMtube	muscle
14	chr2:40077200-40079000	Enhancers	HepG2	liver

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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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