Variant report

Variant	rs11994319
Chromosome Location	chr8:99081267-99081268
allele	A/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:6)

rs_ID	r²[population]
rs11985115	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11987110	0.89[AMR][1000 genomes]
rs11994595	1.00[AMR][1000 genomes]
rs11995769	0.81[AMR][1000 genomes]
rs11996661	0.89[AMR][1000 genomes]
rs7004981	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99077600-99081800	Weak transcription	NHLF	lung
2	chr8:99077600-99083200	Enhancers	Liver	Liver
3	chr8:99078200-99082200	Weak transcription	Pancreas	Pancrea
4	chr8:99078200-99082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99079000-99081400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:99079000-99081600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:99080200-99083400	Enhancers	HepG2	liver
8	chr8:99080400-99081800	Enhancers	Stomach Mucosa	stomach
9	chr8:99080400-99082400	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:99080400-99082400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:99080600-99082200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:99080800-99082400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:99080800-99082400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:99080800-99082400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:99080800-99082400	Enhancers	A549	lung
16	chr8:99080800-99082600	Enhancers	Fetal Heart	heart
17	chr8:99080800-99084400	Enhancers	Fetal Intestine Small	intestine
18	chr8:99081200-99081400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:99081200-99082200	Weak transcription	Fetal Intestine Large	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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