Variant report

Variant	rs10040932
Chromosome Location	chr5:111890356-111890357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111886306..111888838-chr5:111889426..111891005,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10055490	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13163826	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs163445	0.92[ASN][1000 genomes]
rs163447	0.87[ASN][1000 genomes]
rs338860	0.92[ASN][1000 genomes]
rs338861	0.92[ASN][1000 genomes]
rs338862	0.92[ASN][1000 genomes]
rs338865	0.92[ASN][1000 genomes]
rs338866	0.83[ASN][1000 genomes]
rs338868	0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs3934641	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6421839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6421840	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6421841	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6421842	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6421843	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6594608	0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs6594609	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594610	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6594611	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6594612	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7443366	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7446737	0.83[ASN][1000 genomes]
rs7449028	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7702372	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7708839	0.81[ASN][1000 genomes]
rs7711803	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7721904	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7723866	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111887800-111890800	Weak transcription	Fetal Heart	heart
3	chr5:111888000-111891200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:111889400-111891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:111889600-111891000	Enhancers	Fetal Muscle Leg	muscle
6	chr5:111889600-111891200	Enhancers	Brain Germinal Matrix	brain
7	chr5:111889800-111890600	Enhancers	Fetal Brain Male	brain
8	chr5:111889800-111892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:111890000-111890400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:111890000-111890400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:111890000-111890400	Flanking Active TSS	NHDF-Ad	bronchial
12	chr5:111890000-111890600	Active TSS	Adipose Nuclei	Adipose
13	chr5:111890000-111890600	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr5:111890000-111890800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:111890000-111891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111890000-111892000	Enhancers	NHLF	lung
17	chr5:111890200-111890600	Active TSS	Aorta	Aorta
18	chr5:111890200-111890600	Active TSS	Brain Anterior Caudate	brain
19	chr5:111890200-111890600	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:111890200-111890600	Active TSS	Ovary	ovary
21	chr5:111890200-111890600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:111890200-111890600	Active TSS	Osteobl	bone
23	chr5:111890200-111890800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:111890200-111890800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:111890200-111890800	Active TSS	Brain Angular Gyrus	brain
26	chr5:111890200-111890800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:111890200-111890800	Active TSS	Brain Substantia Nigra	brain
28	chr5:111890200-111890800	Enhancers	Fetal Brain Female	brain
29	chr5:111890200-111891200	Weak transcription	Left Ventricle	heart
30	chr5:111890200-111891400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:111890200-111891800	Enhancers	HSMMtube	muscle

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