Variant report

Variant	rs57420239
Chromosome Location	chr7:27459316-27459317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11563956	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11563986	1.00[AMR][1000 genomes]
rs11563990	0.83[AMR][1000 genomes]
rs17502970	1.00[AMR][1000 genomes]
rs28398484	1.00[AMR][1000 genomes]
rs56329049	0.91[AFR][1000 genomes]
rs58320941	1.00[AMR][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	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27458000-27461000	Enhancers	Stomach Mucosa	stomach
2	chr7:27458400-27460000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr7:27458600-27462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27458800-27460000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr7:27458800-27461000	Enhancers	Liver	Liver
6	chr7:27458800-27463200	Weak transcription	Spleen	Spleen
7	chr7:27458800-27464000	Weak transcription	HUVEC	blood vessel
8	chr7:27459000-27459400	Enhancers	Fetal Stomach	stomach
9	chr7:27459000-27459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:27459000-27460800	Enhancers	Fetal Intestine Small	intestine
11	chr7:27459200-27459400	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:27459200-27464600	Weak transcription	Pancreas	Pancrea

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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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