Variant report

Variant	rs61193571
Chromosome Location	chr11:120476679-120476680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1317313	1.00[EUR][1000 genomes]
rs17124081	1.00[EUR][1000 genomes]
rs73574448	1.00[EUR][1000 genomes]
rs73574451	1.00[EUR][1000 genomes]
rs73590034	1.00[EUR][1000 genomes]
rs7928621	1.00[EUR][1000 genomes]
rs7941346	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120468600-120479400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120468600-120479400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120471000-120479400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120471200-120479200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:120471400-120479400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:120472600-120479200	Weak transcription	Fetal Kidney	kidney
7	chr11:120473000-120478000	Weak transcription	Fetal Brain Male	brain
8	chr11:120474600-120478600	Weak transcription	Ovary	ovary
9	chr11:120475000-120481400	Enhancers	Fetal Lung	lung
10	chr11:120476000-120476800	Enhancers	GM12878-XiMat	blood
11	chr11:120476400-120482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:120476600-120477800	Weak transcription	H9 Derived Neuron 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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