Variant report

Variant	rs758267
Chromosome Location	chr14:72902277-72902278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11158956	0.92[ASN][1000 genomes]
rs11623104	0.84[ASN][1000 genomes]
rs11626915	0.90[ASN][1000 genomes]
rs12881810	0.84[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2238180	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs2238183	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2238187	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2283382	0.85[JPT][hapmap]
rs3784045	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3784047	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3825714	0.91[ASN][1000 genomes]
rs4903016	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153117	0.91[ASN][1000 genomes]
rs7156512	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs758266	0.84[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs758267	TMEM229B	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72900400-72902800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:72900600-72902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:72900800-72904400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:72901000-72902400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:72901000-72902800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:72901200-72902400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:72901200-72906800	Enhancers	Dnd41	blood
9	chr14:72901400-72904600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:72901800-72902400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:72901800-72902400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:72901800-72902400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:72901800-72904400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:72902000-72902400	Enhancers	Primary T cells from cord blood	blood
15	chr14:72902200-72902400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr14:72902200-72905600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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