Variant report

Variant	rs12054721
Chromosome Location	chr5:107293031-107293032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1025493	1.00[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs1025494	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11739536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12651919	0.86[JPT][hapmap]
rs12656140	0.93[JPT][hapmap]
rs12657654	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs1433057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17437658	0.93[JPT][hapmap]
rs17437979	0.93[JPT][hapmap]
rs17438307	0.93[JPT][hapmap]
rs17439150	0.93[JPT][hapmap]
rs2067765	1.00[JPT][hapmap]
rs4582260	0.85[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12054721	TMEM232	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107283200-107294400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:107287400-107294200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107287400-107304600	Weak transcription	Aorta	Aorta
4	chr5:107287400-107308600	Weak transcription	Left Ventricle	heart
5	chr5:107287600-107293200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:107287600-107295400	Weak transcription	Thymus	Thymus
7	chr5:107289200-107293600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:107291200-107302000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:107291600-107295400	Weak transcription	Primary T cells from cord blood	blood
10	chr5:107292200-107293400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:107292600-107293200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:107292600-107293200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:107292800-107295600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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