Variant report

Variant	rs6048517
Chromosome Location	chr20:23033378-23033379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23031576..23035125-chr20:23112541..23115430,6	K562	blood:
2	chr20:23031306..23034005-chr20:23046124..23048629,2	MCF-7	breast:
3	chr20:23033213..23035257-chr20:23037224..23038817,2	MCF-7	breast:
4	chr20:23032271..23034692-chr20:23112541..23114516,2	K562	blood:
5	chr20:23027006..23030975-chr20:23031507..23034254,5	MCF-7	breast:
6	chr20:23032699..23035331-chr20:23059587..23061154,2	MCF-7	breast:
7	chr20:23031846..23034845-chr20:23202722..23206110,3	K562	blood:
8	chr20:23030735..23033607-chr20:23271363..23275068,3	K562	blood:
9	chr20:23025358..23028275-chr20:23031819..23034490,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-8	chr20:23030380-23035547	NONHSAT079029

No data

No data

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6036274	1.00[AMR][1000 genomes]
rs6036321	1.00[AMR][1000 genomes]
rs6048478	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23032400-23033800	Weak transcription	Gastric	stomach
2	chr20:23032400-23034000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:23032600-23033400	Enhancers	Placenta	Placenta
4	chr20:23032600-23033400	Enhancers	Right Ventricle	heart
5	chr20:23032600-23041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:23032800-23034400	Enhancers	K562	blood
7	chr20:23032800-23041400	Weak transcription	Spleen	Spleen
8	chr20:23033000-23033600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr20:23033200-23033800	Weak transcription	Psoas Muscle	Psoas

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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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