Variant report

Variant	rs10982616
Chromosome Location	chr9:117982057-117982058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10982595	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10982606	0.90[CHB][hapmap]
rs10982609	0.91[CHB][hapmap];1.00[YRI][hapmap]
rs10982614	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1110169	1.00[YRI][hapmap]
rs1537732	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1888673	1.00[YRI][hapmap]
rs2183702	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs4147052	0.91[CHB][hapmap]
rs4978628	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10982616	PAPPA	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117974200-117982400	Weak transcription	Brain Germinal Matrix	brain
2	chr9:117975400-117982400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:117976600-117982600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:117976600-117985400	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:117976600-117987400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:117977000-117982200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:117977000-117982200	Weak transcription	NHEK	skin
8	chr9:117977000-117982800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:117977200-117982200	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:117977200-117982400	Weak transcription	Fetal Brain Male	brain
11	chr9:117979800-117984200	Weak transcription	Aorta	Aorta
12	chr9:117980400-117982600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:117980400-117984600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:117980800-117988800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:117981400-117983200	Enhancers	Fetal Stomach	stomach
16	chr9:117981400-117988600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:117981600-117982800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:117982000-117983200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:117982000-117983400	Enhancers	Fetal Lung	lung

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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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