Variant report

Variant	rs13024417
Chromosome Location	chr2:180683132-180683133
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12998578	0.94[EUR][1000 genomes]
rs165375	1.00[EUR][1000 genomes]
rs165377	1.00[EUR][1000 genomes]
rs165384	0.94[EUR][1000 genomes]
rs259832	0.94[EUR][1000 genomes]
rs357717	0.94[EUR][1000 genomes]
rs35870821	0.94[EUR][1000 genomes]
rs6709255	0.94[EUR][1000 genomes]
rs71425646	0.94[EUR][1000 genomes]
rs73048563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180682600-180683200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:180682800-180683800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:180682800-180686800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:180682800-180688400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:180682800-180690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:180683000-180684000	Weak transcription	H1 BMP4 Derived Trophoblast 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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