Variant report

Variant	rs12222672
Chromosome Location	chr11:102350211-102350212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12290389	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1943783	0.83[AMR][1000 genomes]
rs7944764	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7951520	0.85[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs7952053	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
rs12222672	TMEM123	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 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	chr11:102345000-102351600	Weak transcription	Gastric	stomach
3	chr11:102346800-102350400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:102346800-102350600	Enhancers	Primary T cells from cord blood	blood
5	chr11:102347000-102350400	Enhancers	Fetal Intestine Small	intestine
6	chr11:102347000-102353000	Enhancers	Stomach Mucosa	stomach
7	chr11:102347800-102353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:102348000-102353400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:102348200-102351400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:102348200-102351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:102348600-102351600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:102348800-102350800	Enhancers	Brain Germinal Matrix	brain
13	chr11:102348800-102352000	Weak transcription	K562	blood
14	chr11:102348800-102353400	Weak transcription	Hela-S3	cervix
15	chr11:102349400-102350400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:102349600-102350400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:102350200-102353400	Weak transcription	HepG2	liver

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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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