Variant report

Variant	rs10759013
Chromosome Location	chr9:8875954-8875955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10815944	1.00[JPT][hapmap]
rs10977295	1.00[JPT][hapmap]
rs12350351	1.00[JPT][hapmap]
rs1549998	1.00[JPT][hapmap]
rs16928634	1.00[JPT][hapmap]
rs17660536	1.00[JPT][hapmap]
rs17660571	1.00[JPT][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	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv819452	chr9:8874309-8877953	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10759013	PRPF4B	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8869400-8876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:8871000-8876000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:8871000-8879800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:8871400-8883000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:8872400-8876200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:8873000-8877800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr9:8873200-8877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:8873200-8878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:8873800-8877600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:8874000-8877800	Weak transcription	Brain Anterior Caudate	brain
11	chr9:8874000-8878800	Weak transcription	Brain Angular Gyrus	brain
12	chr9:8875200-8876200	Weak transcription	Fetal Heart	heart
13	chr9:8875400-8876600	Enhancers	Brain Substantia Nigra	brain
14	chr9:8875600-8876000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:8875600-8880400	Enhancers	Brain Hippocampus Middle	brain
16	chr9:8875800-8876000	Enhancers	Brain Inferior Temporal Lobe	brain

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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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