Variant report

Variant	rs7318557
Chromosome Location	chr13:39920286-39920287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12856032	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1333439	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1924315	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2147127	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2181760	0.84[EUR][1000 genomes]
rs2324258	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2985186	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4340188	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6563698	0.82[CHB][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7321424	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7335060	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338314	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs747383	0.82[ASN][1000 genomes]
rs7986707	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7988864	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7995844	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9285131	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315671	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9315675	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9315678	0.82[GIH][hapmap]
rs9532371	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9532372	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9548722	0.85[EUR][1000 genomes]
rs9548729	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9548731	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9548733	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9548738	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs957184	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576776	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576777	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987848	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7318557	MRPS31	cis	cerebellum	SCAN
rs7318557	LHFP	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39904200-39923600	Weak transcription	Ovary	ovary
2	chr13:39910600-39922400	Weak transcription	Aorta	Aorta
3	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
4	chr13:39912400-39924600	Weak transcription	Fetal Lung	lung
5	chr13:39913200-39922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:39914000-39922400	Weak transcription	Gastric	stomach
7	chr13:39914200-39924400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:39914400-39922800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:39914800-39924600	Weak transcription	Fetal Stomach	stomach
10	chr13:39915800-39921600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:39915800-39924200	Weak transcription	Osteobl	bone
12	chr13:39916000-39922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
15	chr13:39917000-39922400	Weak transcription	Lung	lung
16	chr13:39918200-39920800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
18	chr13:39918400-39923800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:39918600-39922200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:39919200-39922200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:39919600-39920400	Enhancers	Fetal Muscle Leg	muscle
22	chr13:39919800-39921400	Enhancers	Fetal Heart	heart
23	chr13:39919800-39923000	Enhancers	Right Atrium	heart
24	chr13:39920000-39920400	Enhancers	HSMMtube	muscle
25	chr13:39920000-39921600	Enhancers	Left Ventricle	heart
26	chr13:39920000-39922400	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:39920200-39921200	Weak transcription	Right Ventricle	heart

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