Variant report

Variant	rs12386479
Chromosome Location	chr5:150949887-150949888
allele	A/G
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	POLR2A	chr5:150949609-150951629	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr5:150948291-150951634	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr5:150948263-150950666	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr5:150949647-150950033	MCF10A-Er-Src	breast:	n/a	chr5:150949821-150949833 chr5:150949816-150949827 chr5:150949823-150949831
5	MYC	chr5:150949605-150950007	MCF10A-Er-Src	breast:	n/a	chr5:150949823-150949832
6	FOXM1	chr5:150949683-150950669	ECC-1	luminal epithelium:	n/a	n/a
7	E2F4	chr5:150949669-150949899	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr5:150949663-150950556	ECC-1	luminal epithelium:	n/a	n/a
9	STAT3	chr5:150949642-150950035	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:150949605-150950035	MCF10A-Er-Src	breast:	n/a	chr5:150949821-150949833 chr5:150949816-150949827 chr5:150949823-150949831
11	POLR2A	chr5:150948108-150950740	ECC-1	luminal epithelium:	n/a	n/a
12	SP1	chr5:150949694-150950695	HCT-116	colon:	n/a	chr5:150950169-150950178 chr5:150950150-150950164
13	STAT3	chr5:150949735-150949974	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr5:150949571-150951459	ECC-1	luminal epithelium:	n/a	chr5:150950813-150950822 chr5:150949823-150949832
15	TEAD4	chr5:150949603-150950635	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr5:150949674-150950017	MCF10A-Er-Src	breast:	n/a	chr5:150949821-150949833 chr5:150949816-150949827 chr5:150949823-150949831
17	STAT3	chr5:150949688-150950006	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:150949575-150949891	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr5:150949723-150949979	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr5:150948287-150951635	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165 chr5:150951194-150951201
21	TCF12	chr5:150949513-150950738	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165
22	EP300	chr5:150948268-150951579	ECC-1	luminal epithelium:	n/a	n/a
23	FOS	chr5:150949644-150950033	MCF10A-Er-Src	breast:	n/a	chr5:150949821-150949833 chr5:150949816-150949827 chr5:150949823-150949831

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	chr5:150949333..150952291-chr5:151000084..151002404,2	MCF-7	breast:
4	chr5:150949275..150951752-chr5:151137668..151139701,2	K562	blood:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10035812	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10044879	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10059380	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10064935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10074311	0.84[ASN][1000 genomes]
rs10476989	1.00[CHB][hapmap]
rs13359319	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13361506	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2304023	1.00[CHB][hapmap]
rs28393159	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464529	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28506125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28556596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736662	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58108509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58297526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395047	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58733181	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59016671	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59412412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60673682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860179	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860376	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860421	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881602	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73273970	0.81[AMR][1000 genomes];0.84[ASN][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	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150948000-150950200	Weak transcription	Spleen	Spleen
2	chr5:150948400-150950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:150948400-150951200	Enhancers	Esophagus	oesophagus
4	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus
6	chr5:150948600-150951000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr5:150948600-150951400	Enhancers	Placenta	Placenta
8	chr5:150948600-150952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:150949000-150950200	Enhancers	Fetal Heart	heart
10	chr5:150949000-150951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:150949400-150950200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:150949400-150950200	Enhancers	Left Ventricle	heart
13	chr5:150949600-150950200	Enhancers	Right Ventricle	heart
14	chr5:150949600-150950200	Enhancers	HMEC	breast
15	chr5:150949600-150950800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:150949600-150951600	Flanking Active TSS	NHEK	skin
17	chr5:150949800-150950600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:150949800-150950600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr5:150949800-150951000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:150949800-150951200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr5:150949800-150951200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:150949800-150951400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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