Variant report

Variant	rs7034038
Chromosome Location	chr9:117910022-117910023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10125663	0.89[AFR][1000 genomes]
rs10982567	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1335333	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414137	0.96[YRI][hapmap];0.95[AFR][1000 genomes]
rs1537015	0.81[LWK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs1537720	0.93[AFR][1000 genomes]
rs4978621	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979496	0.89[AFR][1000 genomes]
rs4979505	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60632414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478134	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945257	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7034038	PAPPA	cis	cerebellum	SCAN
rs7034038	DEC1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117904800-117910200	Enhancers	NHDF-Ad	bronchial
2	chr9:117905000-117910200	Enhancers	Osteobl	bone
3	chr9:117906800-117910400	Enhancers	Rectal Smooth Muscle	rectum
4	chr9:117908000-117910400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:117908000-117912000	Enhancers	Colon Smooth Muscle	Colon
6	chr9:117908200-117910400	Enhancers	NHLF	lung
7	chr9:117908400-117910200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:117908400-117910400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:117908400-117910800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:117908400-117910800	Enhancers	Fetal Stomach	stomach
11	chr9:117908400-117912200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:117908600-117910200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:117909800-117913200	Weak transcription	Aorta	Aorta
14	chr9:117910000-117913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:117910000-117918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:117910000-117918800	Weak transcription	Placenta Amnion	Placenta Amnion

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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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