Variant report

Variant	rs73576305
Chromosome Location	chr6:142620378-142620379
allele	C/T
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	CEBPB	chr6:142620241-142620568	HepG2	liver:	n/a	chr6:142620377-142620388
2	CEBPB	chr6:142620271-142620509	A549	lung:	n/a	chr6:142620377-142620388
3	POLR2A	chr6:142620339-142620413	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr6:142620347-142620537	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:142616393..142621187-chr6:142621251..142624872,10	MCF-7	breast:
2	chr6:142616863..142618821-chr6:142620050..142622053,2	K562	blood:
3	chr6:142617568..142620556-chr6:142699575..142701431,2	MCF-7	breast:
4	chr6:142619918..142621591-chr6:142650811..142653503,2	MCF-7	breast:
5	chr6:142546061..142548979-chr6:142618829..142620603,2	MCF-7	breast:
6	chr6:142619429..142621317-chr6:142736367..142738692,2	MCF-7	breast:
7	chr6:142614542..142616316-chr6:142618256..142620564,2	K562	blood:

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs57244265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59280767	0.92[AMR][1000 genomes]
rs59648555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60258191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61299002	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6905012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920468	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6920602	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6926685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576325	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73576330	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142616400-142621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:142618000-142620400	Flanking Active TSS	HepG2	liver
3	chr6:142618200-142621800	Enhancers	HMEC	breast
4	chr6:142618400-142620400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:142618400-142620400	Enhancers	NHLF	lung
6	chr6:142618400-142620600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:142618400-142621600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:142618400-142621600	Enhancers	NHEK	skin
9	chr6:142618600-142620400	Enhancers	HUVEC	blood vessel
10	chr6:142618600-142620600	Enhancers	HSMM	muscle
11	chr6:142618600-142621800	Weak transcription	Stomach Mucosa	stomach
12	chr6:142618800-142621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:142618800-142622000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:142619200-142620400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:142619200-142622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:142619400-142621800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:142619400-142622000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:142619400-142622000	Enhancers	Placenta	Placenta
19	chr6:142619600-142620800	Enhancers	A549	lung
20	chr6:142619600-142621400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:142619600-142621600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:142619600-142621600	Weak transcription	Fetal Lung	lung
23	chr6:142619600-142622200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:142619600-142622200	Weak transcription	NHDF-Ad	bronchial
25	chr6:142619800-142620400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:142619800-142621600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:142619800-142621800	Weak transcription	Fetal Heart	heart
28	chr6:142619800-142622000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:142619800-142622000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:142619800-142622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:142619800-142622000	Weak transcription	NH-A	brain
32	chr6:142620000-142621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:142620000-142621800	Weak transcription	Osteobl	bone
34	chr6:142620000-142622000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:142620000-142622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:142620200-142620400	Enhancers	HSMMtube	muscle

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