Variant report

Variant	rs1943783
Chromosome Location	chr11:102358107-102358108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10895301	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12222672	0.84[CEU][hapmap];0.83[AMR][1000 genomes]
rs12290389	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs480950	0.83[CHB][hapmap];0.85[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs6590962	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107500	0.94[ASN][1000 genomes]
rs7127524	0.94[ASN][1000 genomes]
rs7944764	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7951520	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952053	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1943783	TMEM123	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102341000-102359600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:102353400-102361400	Enhancers	HepG2	liver
3	chr11:102357600-102358400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:102357600-102358400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:102357600-102358400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:102357600-102358400	Enhancers	Fetal Intestine Small	intestine
7	chr11:102357800-102358400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:102357800-102358400	Enhancers	Primary T cells from cord blood	blood
9	chr11:102357800-102358600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:102357800-102358600	Enhancers	Thymus	Thymus
11	chr11:102358000-102358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:102358000-102358400	Enhancers	Fetal Thymus	thymus

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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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