Variant report

Variant	rs10462368
Chromosome Location	chr5:70695751-70695752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10942284	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743135	0.83[EUR][1000 genomes]
rs12514732	0.83[EUR][1000 genomes]
rs3748043	0.83[EUR][1000 genomes]
rs5005863	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6452722	0.81[EUR][1000 genomes]
rs6877289	0.81[EUR][1000 genomes]
rs7447726	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7715648	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7727576	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529287	chr5:69732192-70716662	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033366	chr5:70254883-70710447	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv980680	chr5:70530575-70702151	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1018141	chr5:70654060-70708985	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1031941	chr5:70654060-70710447	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1017385	chr5:70660739-70710447	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1850052	chr5:70674583-70745387	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10462368	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70694800-70698400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:70694800-70698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:70694800-70698800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:70694800-70700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:70695600-70696000	Enhancers	Fetal Brain Male	brain

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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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