Variant report

Variant	rs10744163
Chromosome Location	chr12:124383950-124383951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1022320	1.00[CHB][hapmap]
rs1022321	1.00[CHB][hapmap]
rs1048497	1.00[CHD][hapmap]
rs10846559	1.00[CHB][hapmap]
rs10846569	1.00[CHB][hapmap]
rs10846572	0.84[YRI][hapmap]
rs11057355	1.00[CHB][hapmap]
rs1114628	1.00[CHB][hapmap]
rs11835252	1.00[CHB][hapmap]
rs12306328	0.91[MKK][hapmap];0.83[YRI][hapmap]
rs1316952	1.00[CHD][hapmap]
rs1568030	1.00[CHB][hapmap]
rs2340692	1.00[CHB][hapmap]
rs4930728	1.00[CHB][hapmap]
rs4930732	1.00[CHB][hapmap]
rs7973103	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10744163	OGFOD2	cis	cerebellum	SCAN
rs10744163	PITPNM2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124380000-124385600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:124381800-124384000	Weak transcription	Fetal Brain Male	brain
3	chr12:124382000-124385400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:124382000-124391400	Weak transcription	Fetal Lung	lung
5	chr12:124382200-124385400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:124383800-124384000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr12:124383800-124384000	Enhancers	Right Ventricle	heart

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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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