Variant report

Variant	rs57558053
Chromosome Location	chr6:28753779-28753780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr6:28753692-28754311	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr6:28753625-28754681	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28743433..28746834-chr6:28752955..28757172,5	K562	blood:
2	chr6:28739291..28741599-chr6:28752490..28754377,2	K562	blood:
3	chr6:28752766..28756379-chr6:28756550..28759154,4	K562	blood:
4	chr6:28753746..28756116-chr6:28862923..28865863,2	K562	blood:

Variant related genes	Relation type
ENSG00000235559	TF binding region
ENSG00000221191	Chromatin interaction
ENSG00000224157	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1041881	0.81[ASN][1000 genomes]
rs4713180	0.81[ASN][1000 genomes]
rs9257171	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28750400-28756400	Weak transcription	K562	blood
2	chr6:28753200-28754800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:28753600-28753800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
4	chr6:28753600-28753800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:28753600-28753800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28753600-28753800	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr6:28753600-28754000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr6:28753600-28754000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr6:28753600-28754000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:28753600-28754000	Bivalent/Poised TSS	A549	lung
11	chr6:28753600-28754000	Bivalent Enhancer	HMEC	breast
12	chr6:28753600-28754000	Bivalent Enhancer	NHEK	skin
13	chr6:28753600-28754200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr6:28753600-28754200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:28753600-28754200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:28753600-28754200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:28753600-28754200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:28753600-28754200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:28753600-28754200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:28753600-28754400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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