Variant report

Variant	rs2004950
Chromosome Location	chr1:97447304-97447305
allele	G/T
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:7)

rs_ID	r²[population]
rs12077060	0.82[EUR][1000 genomes]
rs1519891	0.81[EUR][1000 genomes]
rs17115879	0.81[EUR][1000 genomes]
rs28819508	0.81[EUR][1000 genomes]
rs6673719	0.81[EUR][1000 genomes]
rs6697652	0.82[EUR][1000 genomes]
rs9651214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97439800-97451800	Weak transcription	Fetal Heart	heart
2	chr1:97445400-97450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:97445600-97447600	Enhancers	HUVEC	blood vessel
4	chr1:97446600-97448200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:97447200-97447600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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