Variant report

Variant	rs820553
Chromosome Location	chr3:112470586-112470587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:112470298-112471455	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr3:112470236-112471414	ECC-1	luminal epithelium:	n/a	chr3:112470312-112470326 chr3:112470310-112470324
3	TCF12	chr3:112470248-112471506	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr3:112470572-112471530	A549	lung:	n/a	n/a
5	ESR1	chr3:112470264-112470826	ECC-1	luminal epithelium:	n/a	n/a
6	KAP1	chr3:112470385-112471475	HEK293	kidney:	n/a	n/a
7	ESR1	chr3:112470162-112470827	ECC-1	luminal epithelium:	n/a	n/a
8	FOSL2	chr3:112470403-112471416	A549	lung:	n/a	n/a
9	ESR1	chr3:112470149-112470893	ECC-1	luminal epithelium:	n/a	n/a
10	ESR1	chr3:112470353-112470776	ECC-1	luminal epithelium:	n/a	n/a
11	TCF7L2	chr3:112470427-112471225	HEK293	kidney:	n/a	n/a
12	TCF12	chr3:112470249-112471541	A549	lung:	n/a	n/a
13	ESR1	chr3:112470267-112470807	ECC-1	luminal epithelium:	n/a	n/a
14	KAP1	chr3:112470441-112471307	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112465788..112467955-chr3:112468785..112471247,2	K562	blood:
2	chr3:112461762..112464702-chr3:112469113..112471587,3	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs59168637	0.87[ASN][1000 genomes]
rs820542	0.84[EUR][1000 genomes]
rs820555	0.89[MEX][hapmap]
rs820559	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820563	0.86[EUR][1000 genomes]
rs820567	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112459000-112470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:112464400-112470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112465800-112470800	Weak transcription	NHDF-Ad	bronchial
4	chr3:112467000-112470800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:112468000-112470600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:112468000-112472000	Enhancers	A549	lung
7	chr3:112468000-112478200	Weak transcription	K562	blood
8	chr3:112468000-112488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112468200-112471600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:112468600-112470600	Weak transcription	Stomach Mucosa	stomach
11	chr3:112469000-112472000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:112469200-112471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:112470000-112470800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:112470000-112472600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:112470400-112470600	Enhancers	NH-A	brain
16	chr3:112470400-112470800	Enhancers	Osteobl	bone
17	chr3:112470400-112471000	Enhancers	Fetal Intestine Small	intestine
18	chr3:112470400-112471200	Enhancers	Fetal Intestine Large	intestine
19	chr3:112470400-112471400	Enhancers	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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