Variant report

Variant	rs60513719
Chromosome Location	chr4:99915116-99915117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:99915095-99915181	MCF-7	breast:	n/a	n/a
2	POLR2A	chr4:99915033-99915123	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99859227..99861743-chr4:99914804..99916437,2	K562	blood:
2	chr4:99914813..99916738-chr4:99980811..99982387,2	MCF-7	breast:
3	chr4:99913236..99916407-chr4:99949384..99951097,3	K562	blood:
4	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
5	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
6	chr4:99914937..99918533-chr4:100007922..100010203,4	K562	blood:
7	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:

No data

No data

No data

Variant related genes	Relation type
MIR3684	TF binding region
METAP1	TF binding region
ENSG00000246090	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000197894	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489130	0.84[AMR][1000 genomes]
rs17028382	0.92[AMR][1000 genomes]
rs17028421	1.00[AMR][1000 genomes]
rs35933543	1.00[AMR][1000 genomes]
rs57770074	1.00[AMR][1000 genomes]
rs58521602	0.84[AMR][1000 genomes]
rs6532777	1.00[AMR][1000 genomes]
rs6822811	1.00[AMR][1000 genomes]
rs6834982	1.00[AMR][1000 genomes]
rs6844771	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908953	1.00[AMR][1000 genomes]
rs72908961	1.00[AMR][1000 genomes]
rs72908966	1.00[AMR][1000 genomes]
rs72908968	0.84[AMR][1000 genomes]
rs72908992	1.00[AMR][1000 genomes]
rs72908996	0.85[AMR][1000 genomes]
rs7667503	0.92[AMR][1000 genomes]
rs7670154	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99912600-99915400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:99914200-99916200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:99914600-99915200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:99915000-99915200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:99915000-99915200	Enhancers	Esophagus	oesophagus
6	chr4:99915000-99915200	Enhancers	Pancreas	Pancrea
7	chr4:99915000-99915200	Enhancers	Right Atrium	heart
8	chr4:99915000-99915200	Enhancers	Right Ventricle	heart
9	chr4:99915000-99915600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:99915000-99915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:99915000-99915600	Enhancers	Dnd41	blood
12	chr4:99915000-99915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:99915000-99915800	Enhancers	HMEC	breast

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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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