Variant report

Variant	rs10039591
Chromosome Location	chr5:150951368-150951369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:150949609-150951629	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr5:150950712-150951521	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr5:150949934-150951424	ECC-1	luminal epithelium:	n/a	chr5:150950813-150950822
4	NFIC	chr5:150948291-150951634	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr5:150949571-150951459	ECC-1	luminal epithelium:	n/a	chr5:150950813-150950822 chr5:150949823-150949832
6	TCF12	chr5:150950744-150951547	ECC-1	luminal epithelium:	n/a	chr5:150951194-150951201
7	TCF12	chr5:150948287-150951635	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165 chr5:150951194-150951201
8	ESR1	chr5:150950928-150951375	ECC-1	luminal epithelium:	n/a	n/a
9	CCNT2	chr5:150951260-150951384	K562	blood:	n/a	n/a
10	EP300	chr5:150948268-150951579	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:150949470..150952211-chr5:150958873..150961683,3	MCF-7	breast:
2	chr5:150948647..150952629-chr5:150970748..150974404,4	MCF-7	breast:
3	chr5:150950232..150951828-chr5:150992759..150995006,2	MCF-7	breast:
4	chr5:150951358..150953690-chr5:150997302..150999283,2	MCF-7	breast:
5	chr5:150951137..150953808-chr5:151149761..151151549,2	K562	blood:
6	chr5:150949333..150952291-chr5:151000084..151002404,2	MCF-7	breast:
7	chr5:150949275..150951752-chr5:151137668..151139701,2	K562	blood:
8	chr5:150947375..150949317-chr5:150951116..150952783,2	K562	blood:

No data

Variant related genes	Relation type
FAT2	TF binding region
ENSG00000086570	Chromatin interaction
ENSG00000145907	Chromatin interaction
ENSG00000177556	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10044120	0.83[ASN][1000 genomes]
rs10054406	0.88[ASN][1000 genomes]
rs10069540	0.88[ASN][1000 genomes]
rs10069901	0.88[ASN][1000 genomes]
rs10071034	0.83[ASN][1000 genomes]
rs10072841	0.83[ASN][1000 genomes]
rs10079712	0.83[ASN][1000 genomes]
rs10085060	0.87[ASN][1000 genomes]
rs11746958	0.83[ASN][1000 genomes]
rs11750312	0.83[ASN][1000 genomes]
rs13158643	0.88[ASN][1000 genomes]
rs13166858	0.83[ASN][1000 genomes]
rs13167092	0.83[ASN][1000 genomes]
rs13187324	0.83[ASN][1000 genomes]
rs1432862	0.89[ASN][1000 genomes]
rs1432866	0.83[ASN][1000 genomes]
rs1541909	0.81[ASN][1000 genomes]
rs1835944	0.83[ASN][1000 genomes]
rs2163769	0.89[ASN][1000 genomes]
rs2304054	0.88[ASN][1000 genomes]
rs28449749	0.88[ASN][1000 genomes]
rs34335300	0.88[ASN][1000 genomes]
rs34346367	0.88[ASN][1000 genomes]
rs35908499	0.88[ASN][1000 genomes]
rs35957412	0.88[ASN][1000 genomes]
rs3734055	0.87[ASN][1000 genomes]
rs3734057	0.87[ASN][1000 genomes]
rs3734058	0.82[ASN][1000 genomes]
rs3734059	0.89[ASN][1000 genomes]
rs3734060	0.88[ASN][1000 genomes]
rs4314387	0.83[ASN][1000 genomes]
rs4320248	0.87[ASN][1000 genomes]
rs4376256	0.83[ASN][1000 genomes]
rs4416593	0.83[ASN][1000 genomes]
rs4416594	0.83[ASN][1000 genomes]
rs4416595	0.81[ASN][1000 genomes]
rs4452546	0.83[ASN][1000 genomes]
rs6859217	0.87[ASN][1000 genomes]
rs6878528	0.87[ASN][1000 genomes]
rs6878532	0.87[ASN][1000 genomes]
rs6878556	0.87[ASN][1000 genomes]
rs6878627	0.87[ASN][1000 genomes]
rs6883153	0.87[ASN][1000 genomes]
rs6883216	0.87[ASN][1000 genomes]
rs7709576	0.81[ASN][1000 genomes]
rs7710596	0.82[ASN][1000 genomes]
rs7719117	0.83[ASN][1000 genomes]
rs7726769	0.90[ASN][1000 genomes]
rs7727173	0.90[ASN][1000 genomes]
rs7732813	0.81[ASN][1000 genomes]
rs7737011	0.83[ASN][1000 genomes]
rs7737419	0.83[ASN][1000 genomes]
rs9324698	0.87[ASN][1000 genomes]
rs9324699	0.88[ASN][1000 genomes]
rs9324700	0.89[ASN][1000 genomes]
rs9918229	0.83[ASN][1000 genomes]
rs9918283	0.83[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	esv20633	chr5:150941705-150955343	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv600038	chr5:150950853-150955127	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus
3	chr5:150948600-150951400	Enhancers	Placenta	Placenta
4	chr5:150948600-150952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:150949000-150951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:150949600-150951600	Flanking Active TSS	NHEK	skin
7	chr5:150949800-150951400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
8	chr5:150950800-150951600	Enhancers	Primary B cells from cord blood	blood
9	chr5:150950800-150951600	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:150951000-150951400	Enhancers	Colon Smooth Muscle	Colon
11	chr5:150951200-150951400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:150951200-150951400	Enhancers	Lung	lung
13	chr5:150951200-150951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:150951200-150952000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:150951200-150952200	Enhancers	HMEC	breast
16	chr5:150951200-150953600	Weak transcription	Esophagus	oesophagus
17	chr5:150951200-150960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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