Variant report

Variant	rs948027
Chromosome Location	chr11:120644424-120644425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10892624	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11217999	0.82[CHB][hapmap]
rs11606421	0.82[CHB][hapmap]
rs2846097	0.82[EUR][1000 genomes]
rs7109584	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7948804	0.92[CHB][hapmap]
rs948028	0.92[CHB][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs9667343	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524900	chr11:120642698-120645211	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
6	esv3347604	chr11:120644277-120644555	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120637200-120646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120637200-120647000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120643000-120646600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:120643400-120645400	Enhancers	HUVEC	blood vessel
5	chr11:120643400-120646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:120643600-120645600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr11:120643600-120646400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:120643800-120645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:120643800-120645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:120644000-120644800	Bivalent Enhancer	HSMMtube	muscle
11	chr11:120644200-120644800	Enhancers	Osteobl	bone

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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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