Variant report

Variant	rs7989488
Chromosome Location	chr13:30320839-30320840
allele	C/T
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:9)

rs_ID	r²[population]
rs1411732	1.00[ASN][1000 genomes]
rs1590951	1.00[ASN][1000 genomes]
rs17073761	1.00[ASN][1000 genomes]
rs17073762	1.00[ASN][1000 genomes]
rs2768779	1.00[ASN][1000 genomes]
rs4299006	1.00[ASN][1000 genomes]
rs7326521	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs745473	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs874798	1.00[ASN][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30317600-30324200	Weak transcription	Adipose Nuclei	Adipose
2	chr13:30317600-30335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:30320000-30321000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:30320600-30324200	Weak transcription	Colon Smooth Muscle	Colon
5	chr13:30320800-30321400	Enhancers	Rectal Mucosa Donor 29	rectum

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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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