Variant report

Variant	rs462151
Chromosome Location	chr5:81090395-81090396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11744829	1.00[ASN][1000 genomes]
rs410644	0.83[AFR][1000 genomes]
rs465059	1.00[ASN][1000 genomes]
rs61074987	1.00[ASN][1000 genomes]
rs7709153	1.00[CHD][hapmap]
rs7728918	1.00[CHD][hapmap]

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	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv980937	chr5:81075334-81097245	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs462151	HNRNPK	trans	cerebellum	SCAN
rs462151	HOMER1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81084400-81094000	Weak transcription	Thymus	Thymus
2	chr5:81084400-81094200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:81084600-81094000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:81085200-81091600	Weak transcription	Fetal Lung	lung
5	chr5:81085400-81094400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:81085400-81096200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:81089200-81091800	Enhancers	Dnd41	blood
8	chr5:81089400-81091400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:81089400-81092000	Enhancers	Fetal Heart	heart
10	chr5:81089600-81090400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:81089600-81090400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:81089600-81090400	Enhancers	Ovary	ovary
13	chr5:81089600-81090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:81089600-81090800	Enhancers	Left Ventricle	heart
15	chr5:81089600-81091400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:81089800-81099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:81090000-81090400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:81090200-81090800	Enhancers	Fetal Stomach	stomach
19	chr5:81090200-81096200	Weak transcription	Fetal Muscle Leg	muscle

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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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