Variant report

Variant	rs9387475
Chromosome Location	chr6:117763568-117763569
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	MAX	chr6:117762991-117763605	A549	lung:	n/a	n/a
2	SP1	chr6:117761688-117763617	A549	lung:	n/a	n/a
3	MAX	chr6:117762948-117763619	A549	lung:	n/a	n/a
4	TCF12	chr6:117761585-117763733	A549	lung:	n/a	n/a
5	GATA3	chr6:117761550-117763737	A549	lung:	n/a	chr6:117762884-117762893
6	EP300	chr6:117761608-117763725	A549	lung:	n/a	chr6:117763160-117763174
7	MAX	chr6:117762988-117763622	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:117762824-117763571	HepG2	liver:	n/a	chr6:117763260-117763272
9	YY1	chr6:117763563-117763720	K562	blood:	n/a	n/a
10	MYC	chr6:117762958-117763875	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr6:117762890-117763576	HepG2	liver:	n/a	chr6:117763160-117763174
12	EP300	chr6:117761753-117763605	A549	lung:	n/a	chr6:117763160-117763174
13	POLR2A	chr6:117760533-117764140	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr6:117761855-117763902	MCF10A-Er-Src	breast:	n/a	n/a
15	MYBL2	chr6:117762918-117763603	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:117760973-117764365	MCF10A-Er-Src	breast:	n/a	n/a
17	MYBL2	chr6:117762873-117763640	HepG2	liver:	n/a	n/a
18	SP1	chr6:117762857-117763617	A549	lung:	n/a	n/a
19	FOXA2	chr6:117762715-117763812	HepG2	liver:	n/a	chr6:117763260-117763272

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117763172..117766100-chr6:117768265..117771221,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221434	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17079279	1.00[EUR][1000 genomes]
rs9374664	1.00[AFR][1000 genomes]
rs9387477	0.87[EUR][1000 genomes]
rs9387480	1.00[EUR][1000 genomes]
rs9387485	1.00[EUR][1000 genomes]
rs9401008	1.00[AFR][1000 genomes];1.00[EUR][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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv966655	chr6:117758375-117766294	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117761600-117763800	Enhancers	NHEK	skin
2	chr6:117761800-117763600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:117762000-117763800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:117762000-117764600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:117762000-117767800	Enhancers	Osteobl	bone
6	chr6:117762400-117764400	Enhancers	Hela-S3	cervix
7	chr6:117762600-117763600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:117762600-117763600	Active TSS	A549	lung
9	chr6:117762600-117763800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:117762600-117764200	Enhancers	HepG2	liver
11	chr6:117762800-117763800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:117762800-117764200	Enhancers	HSMM	muscle
13	chr6:117762800-117765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:117763000-117772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:117763200-117763600	Enhancers	Liver	Liver
16	chr6:117763200-117763600	Enhancers	Stomach Mucosa	stomach
17	chr6:117763200-117764200	Enhancers	HMEC	breast
18	chr6:117763400-117764000	Weak transcription	NHLF	lung
19	chr6:117763400-117764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:117763400-117765800	Weak transcription	NHDF-Ad	bronchial
21	chr6:117763400-117767200	Weak transcription	HSMMtube	muscle
22	chr6:117763400-117767800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:117763400-117767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:117763400-117767800	Weak transcription	NH-A	brain

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