Variant report

Variant	rs2143520
Chromosome Location	chr6:55919977-55919978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10214687	1.00[AMR][1000 genomes]
rs16887633	1.00[AMR][1000 genomes]
rs9296829	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9464343	1.00[AMR][1000 genomes]
rs9464344	1.00[AMR][1000 genomes]
rs9464346	1.00[AMR][1000 genomes]
rs9475554	1.00[AMR][1000 genomes]
rs9475555	1.00[AMR][1000 genomes]
rs9475557	1.00[AMR][1000 genomes]
rs9475561	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9475569	1.00[AMR][1000 genomes]
rs9475570	1.00[AMR][1000 genomes]
rs9475571	1.00[AMR][1000 genomes]
rs9475639	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv830665	chr6:55755560-55920219	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv526703	chr6:55810482-56023811	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1023687	chr6:55868611-55940255	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1020208	chr6:55870429-55932120	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv538227	chr6:55870429-55932120	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1029182	chr6:55910866-55991956	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55899200-55920400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:55911800-55940800	Weak transcription	Left Ventricle	heart
3	chr6:55916000-55920200	Weak transcription	Fetal Lung	lung
4	chr6:55916000-55927000	Weak transcription	Fetal Stomach	stomach
5	chr6:55916200-55922200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:55916200-55923400	Weak transcription	Fetal Heart	heart
7	chr6:55918800-55921800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:55919000-55920000	Enhancers	Osteobl	bone
9	chr6:55919600-55920600	Enhancers	Ovary	ovary
10	chr6:55919600-55920600	Enhancers	Placenta Amnion	Placenta Amnion

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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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