Variant report

Variant	rs6508993
Chromosome Location	chr19:42241759-42241760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13343300	1.00[CHD][hapmap]
rs57569766	0.88[AFR][1000 genomes]
rs58207265	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7249217	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7249251	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7249363	0.85[AMR][1000 genomes]
rs7249467	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7250337	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7252612	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73932044	0.83[AFR][1000 genomes]
rs73932046	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73932048	0.98[AFR][1000 genomes];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	chr19:42240000-42241800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr19:42240200-42241800	Enhancers	Stomach Mucosa	stomach
5	chr19:42240400-42249600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:42241400-42243800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:42241600-42243000	Weak transcription	Fetal Intestine Small	intestine

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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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