Variant report

Variant	rs1343985
Chromosome Location	chr12:103772579-103772580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10507162	1.00[CEU][hapmap]
rs11111535	0.85[TSI][hapmap]
rs12227177	1.00[CEU][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs12229038	1.00[CEU][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs12230008	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1343986	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1554394	1.00[CEU][hapmap]
rs2139557	1.00[CEU][hapmap]
rs2888728	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4147493	1.00[CEU][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs4304883	0.86[EUR][1000 genomes]
rs4764953	0.86[EUR][1000 genomes]
rs60563650	0.86[EUR][1000 genomes]
rs7132491	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7980492	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455703	chr12:103692799-103818049	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv560037	chr12:103692799-103818049	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv899477	chr12:103747515-103817326	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899478	chr12:103747515-103834275	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1795884	chr12:103772579-103788340	Weak transcription Enhancers ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1343985	MEIS2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103707200-103786400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:103763600-103786400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:103767800-103776600	Weak transcription	Thymus	Thymus
4	chr12:103771000-103773600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:103772000-103772600	Enhancers	H1 BMP4 Derived Mesendoderm 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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