Variant report

Variant	rs55917643
Chromosome Location	chr2:30436321-30436322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10209384	1.00[EUR][1000 genomes]
rs11690883	1.00[ASN][1000 genomes]
rs11694985	1.00[ASN][1000 genomes]
rs13030740	1.00[ASN][1000 genomes]
rs56160055	1.00[ASN][1000 genomes]
rs72785898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955214	1.00[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30426400-30439800	Weak transcription	Right Ventricle	heart
2	chr2:30431800-30436600	Weak transcription	K562	blood
3	chr2:30431800-30439600	Weak transcription	Right Atrium	heart
4	chr2:30432200-30444800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:30433000-30439800	Weak transcription	Fetal Thymus	thymus
6	chr2:30433200-30439000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:30433200-30444200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:30435600-30436800	Enhancers	Small Intestine	intestine
9	chr2:30435800-30441200	Enhancers	Fetal Heart	heart
10	chr2:30436200-30436600	Enhancers	Left Ventricle	heart

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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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