Variant report

Variant	rs11994390
Chromosome Location	chr8:86136601-86136602
allele	C/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:7)

rs_ID	r²[population]
rs11984876	1.00[AFR][1000 genomes]
rs11988348	1.00[AFR][1000 genomes]
rs11991103	1.00[AFR][1000 genomes]
rs11991468	0.90[AFR][1000 genomes]
rs11993595	1.00[AFR][1000 genomes]
rs11994774	0.90[AFR][1000 genomes]
rs11998639	0.90[AFR][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	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr8:86133000-86143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:86133000-86145800	Weak transcription	Gastric	stomach
3	chr8:86133600-86137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:86133800-86157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:86134400-86137000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:86134600-86157200	Weak transcription	Right Atrium	heart
7	chr8:86135000-86137000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:86135000-86137200	Enhancers	Stomach Mucosa	stomach
9	chr8:86135200-86147000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:86135200-86155200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:86135400-86151400	Weak transcription	HepG2	liver
12	chr8:86135800-86137400	Enhancers	Fetal Intestine Large	intestine
13	chr8:86136000-86141400	Weak transcription	GM12878-XiMat	blood
14	chr8:86136000-86157200	Weak transcription	Liver	Liver
15	chr8:86136200-86137600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:86136200-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:86136400-86145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:86136400-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:86136600-86137000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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