Variant report

Variant	rs6508992
Chromosome Location	chr19:42241116-42241117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000105388	Chromatin interaction
ENSG00000267881	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000007306	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58018987	0.87[AMR][1000 genomes]
rs58207265	0.85[AMR][1000 genomes]
rs7249217	0.85[AMR][1000 genomes]
rs7249251	0.85[AMR][1000 genomes]
rs7249363	0.85[AMR][1000 genomes]
rs7249467	0.85[AMR][1000 genomes]
rs7250337	0.85[AMR][1000 genomes]
rs7252612	0.85[AMR][1000 genomes]
rs73932044	1.00[AMR][1000 genomes]
rs73932046	0.85[AMR][1000 genomes]
rs73932048	0.85[AMR][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42236400-42241800	Enhancers	Fetal Intestine Large	intestine
2	chr19:42237000-42243400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:42237400-42241600	Enhancers	Fetal Intestine Small	intestine
4	chr19:42240000-42241800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:42240200-42241400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr19:42240200-42241800	Enhancers	Stomach Mucosa	stomach
7	chr19:42240400-42249600	Weak transcription	Duodenum Mucosa	Duodenum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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