Variant report

Variant	rs12251307
Chromosome Location	chr10:6123495-6123496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11256611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251237	0.89[AFR][1000 genomes]
rs12254050	0.99[AFR][1000 genomes]
rs12266724	0.87[AFR][1000 genomes]
rs12415924	0.94[ASN][1000 genomes]
rs12569923	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs12570860	0.90[ASN][1000 genomes]
rs12572197	0.94[ASN][1000 genomes]
rs34225924	0.99[ASN][1000 genomes]
rs41295067	0.93[ASN][1000 genomes]
rs41295083	0.99[ASN][1000 genomes]
rs41295107	1.00[ASN][1000 genomes]
rs41295111	1.00[ASN][1000 genomes]
rs61839680	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62626322	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs706780	0.84[CHD][hapmap];0.82[JPT][hapmap]

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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Type 1 diabetes	19430480	GWAS catalog
Type 1 diabetes	18978792	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12251307	RBM17	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6115000-6124600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:6115600-6124200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr10:6115600-6127800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr10:6121200-6123800	Weak transcription	Fetal Thymus	thymus
5	chr10:6121600-6125600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr10:6122600-6124600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:6123400-6123600	Enhancers	Left Ventricle	heart

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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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