Variant report

Variant	rs10793068
Chromosome Location	chr11:73669310-73669311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10793067	0.87[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs10793069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235960	0.85[ASN][1000 genomes]
rs1670537	0.82[CHB][hapmap]
rs1670543	0.83[MEX][hapmap]
rs1670564	0.82[CHB][hapmap]
rs1670565	0.81[CHB][hapmap]
rs1792156	0.82[CHB][hapmap]
rs1792160	0.82[CHB][hapmap]
rs1792174	0.82[CHB][hapmap]
rs1792198	0.83[MEX][hapmap]
rs589295	0.92[ASN][1000 genomes]
rs612914	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs634771	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs653263	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]

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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10793068	MOGAT2	cis	parietal	SCAN
rs10793068	MRPL48	cis	lymphoblastoid	seeQTL
rs10793068	PAAF1	cis	Lymphoblastoid	GTEx
rs10793068	PAAF1	cis	lymphoblastoid	seeQTL
rs10793068	MRPL48	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73663400-73670400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73667400-73669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:73667400-73672000	Weak transcription	HSMMtube	muscle
5	chr11:73667600-73672200	Weak transcription	HSMM	muscle
6	chr11:73668000-73670000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:73668200-73669800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:73668800-73669400	Enhancers	Thymus	Thymus
9	chr11:73668800-73672400	Weak transcription	Osteobl	bone
10	chr11:73669000-73669600	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:73669000-73669800	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr11:73669000-73669800	Enhancers	K562	blood
13	chr11:73669000-73670600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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