Variant report

Variant	rs11717477
Chromosome Location	chr3:20784043-20784044
allele	A/C
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]
rs11708878	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11712993	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12630047	1.00[AFR][1000 genomes]
rs17811326	1.00[AFR][1000 genomes]
rs2047615	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2366540	1.00[AFR][1000 genomes]
rs6806978	0.86[EUR][1000 genomes];0.96[ASN][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	nsv876598	chr3:20242143-20970042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv876599	chr3:20264950-20813009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv999025	chr3:20738244-21042249	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20777800-20784600	Weak transcription	Fetal Lung	lung
2	chr3:20781400-20784600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:20782600-20786400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:20782800-20784200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:20783200-20784600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:20783200-20784600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:20783200-20784800	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:20783200-20786000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:20783600-20784200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:20783600-20784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:20783600-20784600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:20783800-20784600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:20783800-20784800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:20784000-20786000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:20784000-20787400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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