Variant report

Variant	rs4397144
Chromosome Location	chr5:164570320-164570321
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:8)

rs_ID	r²[population]
rs1363110	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1363112	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17072563	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17072825	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17072886	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1990866	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs918373	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs991329	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995060	chr5:163660200-164620500	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1033866	chr5:164419608-164677758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1027138	chr5:164563093-164852655	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537937	chr5:164563093-164852655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028006	chr5:164563293-164852516	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv537938	chr5:164563293-164852516	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island 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	chr5:164557800-164570800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:164565200-164570800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:164565800-164570600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:164565800-164570600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:164565800-164574800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:164566800-164570800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:164567200-164570600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:164567200-164570800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:164567600-164570600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:164567600-164576000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:164568400-164570600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:164568400-164575800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:164568600-164570800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:164570000-164571200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:164570000-164571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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