Variant report

Variant	rs7948050
Chromosome Location	chr11:73340690-73340691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34921806	1.00[ASN][1000 genomes]
rs35686018	1.00[ASN][1000 genomes]
rs35854818	1.00[ASN][1000 genomes]
rs56162843	1.00[ASN][1000 genomes]
rs7111217	1.00[ASN][1000 genomes]
rs7935178	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946127	1.00[ASN][1000 genomes]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	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
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7948050	C11orf59	cis	parietal	SCAN
rs7948050	MOGAT2	cis	parietal	SCAN
rs7948050	MRPL48	cis	lymphoblastoid	seeQTL
rs7948050	CHCHD8	cis	parietal	SCAN
rs7948050	ANO1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73337400-73344000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:73337400-73346000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:73339400-73341400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr11:73339800-73341000	Enhancers	HepG2	liver
5	chr11:73339800-73344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:73340000-73341400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:73340400-73340800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:73340400-73340800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:73340400-73341000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr11:73340400-73341400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr11:73340600-73341000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr11:73340600-73341000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr11:73340600-73341000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr11:73340600-73341400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr11:73340600-73341600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr11:73340600-73343200	Weak transcription	Fetal Thymus	thymus

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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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