Variant report

Variant	rs3751334
Chromosome Location	chr13:96086010-96086011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11617285	0.90[ASN][1000 genomes]
rs11620320	0.89[ASN][1000 genomes]
rs11620338	0.90[ASN][1000 genomes]
rs1538336	0.82[ASN][1000 genomes]
rs17235257	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17301019	0.82[ASN][1000 genomes]
rs17301026	0.89[ASN][1000 genomes]
rs1984199	0.90[ASN][1000 genomes]
rs2225936	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4771914	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4771915	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4773900	0.90[ASN][1000 genomes]
rs4773901	0.90[ASN][1000 genomes]
rs4773902	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56024737	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61571009	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7332037	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752652	chr13:96059024-96181597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3751334	MBNL2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96085200-96088000	Active TSS	Fetal Kidney	kidney
2	chr13:96085800-96086200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:96086000-96086200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:96086000-96086200	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:96086000-96086400	Enhancers	Placenta	Placenta

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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