Variant report

Variant	rs11989549
Chromosome Location	chr8:124748738-124748739
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16898807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898809	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898813	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2116353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56247604	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124743400-124751800	Weak transcription	Small Intestine	intestine
2	chr8:124745000-124750800	Weak transcription	Fetal Heart	heart
3	chr8:124746200-124750000	Active TSS	Duodenum Mucosa	Duodenum
4	chr8:124746400-124749800	Active TSS	Fetal Intestine Large	intestine
5	chr8:124746400-124749800	Active TSS	Fetal Intestine Small	intestine
6	chr8:124746400-124751800	Weak transcription	Pancreas	Pancrea
7	chr8:124746600-124748800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:124746800-124763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:124747800-124750600	Enhancers	HepG2	liver
10	chr8:124748000-124749800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:124748200-124749400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:124748600-124748800	Enhancers	A549	lung
13	chr8:124748600-124749800	Enhancers	Rectal Smooth Muscle	rectum

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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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