Variant report

Variant	rs11741331
Chromosome Location	chr5:124488902-124488903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10040497	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10050592	0.82[EUR][1000 genomes]
rs10050742	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10068672	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10085148	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1008776	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1109910	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1109911	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1109912	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11241788	0.88[EUR][1000 genomes]
rs11241789	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12189383	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12520570	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13162105	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13162223	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13187207	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1550361	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550364	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1550365	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17456443	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17456490	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2033842	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34348381	0.86[EUR][1000 genomes]
rs35918516	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5016080	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5016083	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6595576	0.90[EUR][1000 genomes]
rs6595577	0.90[EUR][1000 genomes]
rs6595578	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6862170	0.90[EUR][1000 genomes]
rs6869646	0.84[EUR][1000 genomes]
rs6885185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6888003	0.82[EUR][1000 genomes]
rs6892666	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7721241	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs953844	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11741331	FBXO36	trans	cerebellum	SCAN
rs11741331	SNCAIP	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124484000-124490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:124485000-124490000	Enhancers	Fetal Lung	lung
3	chr5:124485200-124490000	Weak transcription	HSMM	muscle
4	chr5:124485400-124489600	Enhancers	Fetal Kidney	kidney
5	chr5:124485600-124489800	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:124486000-124489200	Weak transcription	HSMMtube	muscle
7	chr5:124486000-124489600	Weak transcription	NHDF-Ad	bronchial
8	chr5:124486000-124489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:124486000-124490600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:124486400-124490000	Weak transcription	Fetal Stomach	stomach
11	chr5:124486600-124490600	Enhancers	Adipose Nuclei	Adipose
12	chr5:124486800-124489200	Enhancers	Brain Angular Gyrus	brain
13	chr5:124486800-124490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:124486800-124490000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:124486800-124491000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:124487000-124489000	Enhancers	Brain Anterior Caudate	brain
17	chr5:124487800-124489000	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:124487800-124489600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:124487800-124490600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:124488000-124491600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:124488200-124489000	Enhancers	HUVEC	blood vessel
22	chr5:124488600-124489600	Enhancers	Dnd41	blood
23	chr5:124488600-124490200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:124488600-124490200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:124488600-124492800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:124488600-124493200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:124488800-124492200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:124488800-124493000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:124488800-124493000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:124488800-124496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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