Variant report

Variant	rs2731901
Chromosome Location	chr5:36574507-36574508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10061650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10076624	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805623	0.90[ASN][1000 genomes]
rs1366636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1428971	0.89[AFR][1000 genomes]
rs2115521	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562554	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2562555	0.89[AFR][1000 genomes]
rs2562559	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2562568	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2731902	0.90[AFR][1000 genomes]
rs2731906	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2731907	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2731909	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2731920	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9800255	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2731901	C9	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36570000-36575600	Weak transcription	Aorta	Aorta
2	chr5:36571000-36575200	Weak transcription	Fetal Heart	heart
3	chr5:36571200-36584000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:36571200-36584000	Weak transcription	Brain Substantia Nigra	brain
5	chr5:36571600-36577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:36571800-36575200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:36572200-36575200	Weak transcription	Left Ventricle	heart
8	chr5:36572200-36575600	Weak transcription	Ovary	ovary
9	chr5:36572600-36574600	Enhancers	Osteobl	bone
10	chr5:36572800-36575200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:36572800-36575600	Enhancers	HSMM	muscle
12	chr5:36572800-36576200	Enhancers	HMEC	breast
13	chr5:36573000-36575400	Enhancers	NH-A	brain
14	chr5:36573000-36577400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:36573200-36575200	Enhancers	HUVEC	blood vessel
16	chr5:36573200-36575400	Enhancers	NHEK	skin
17	chr5:36573200-36575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:36573200-36575800	Enhancers	HSMMtube	muscle
19	chr5:36573200-36577400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:36573800-36574800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:36573800-36575400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:36573800-36575400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:36573800-36575400	Weak transcription	NHLF	lung
24	chr5:36574000-36575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:36574000-36575200	Weak transcription	Hela-S3	cervix
26	chr5:36574000-36575400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:36574000-36575400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:36574000-36575400	Weak transcription	NHDF-Ad	bronchial
29	chr5:36574000-36575600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:36574200-36575600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:36574200-36575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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