Variant report

Variant	rs2025411
Chromosome Location	chr13:39911735-39911736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1413052	0.81[ASN][1000 genomes]
rs1413053	0.81[ASN][1000 genomes]
rs1413056	0.81[ASN][1000 genomes]
rs1930815	0.81[ASN][1000 genomes]
rs2026521	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2181758	0.80[EUR][1000 genomes]
rs2324246	0.81[ASN][1000 genomes]
rs2324247	0.81[ASN][1000 genomes]
rs2324248	0.81[ASN][1000 genomes]
rs2875295	0.81[ASN][1000 genomes]
rs4332638	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4941920	0.81[ASN][1000 genomes]
rs7317911	0.81[ASN][1000 genomes]
rs7318557	0.80[CEU][hapmap]
rs7320591	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7325323	0.80[EUR][1000 genomes]
rs7338797	0.81[ASN][1000 genomes]
rs7982031	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7984781	0.80[EUR][1000 genomes]
rs7987049	0.81[ASN][1000 genomes]
rs7992698	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7999468	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9315670	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs944867	0.81[ASN][1000 genomes]
rs9548719	0.81[ASN][1000 genomes]
rs9548720	0.81[ASN][1000 genomes]
rs9548727	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9548734	0.80[EUR][1000 genomes]
rs9548735	0.85[EUR][1000 genomes]
rs9548737	0.81[EUR][1000 genomes]
rs9548739	0.83[EUR][1000 genomes]
rs9576774	0.85[EUR][1000 genomes]
rs9594326	0.82[EUR][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
rs2025411	MRPS31	cis	cerebellum	SCAN
rs2025411	LHFP	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39904200-39923600	Weak transcription	Ovary	ovary
2	chr13:39907400-39915600	Weak transcription	Left Ventricle	heart
3	chr13:39910400-39912000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:39910600-39922400	Weak transcription	Aorta	Aorta
5	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:39911400-39914800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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