Variant report

Variant	rs58758475
Chromosome Location	chr6:142735660-142735661
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	POLR2A	chr6:142735629-142735710	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:142735600-142735951	MCF-7	breast:	n/a	n/a
3	CEBPB	chr6:142735549-142735973	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:142735252-142736340	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:142734245..142735957-chr6:142740878..142742479,2	MCF-7	breast:
2	chr6:142733339..142736237-chr6:142747446..142749492,2	MCF-7	breast:
3	chr6:142733840..142736279-chr6:142738480..142740069,2	MCF-7	breast:

Variant related genes	Relation type
GPR126	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs56674756	1.00[AFR][1000 genomes]
rs59051385	0.94[AFR][1000 genomes]
rs60150871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60185388	1.00[AFR][1000 genomes]
rs60199449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60259179	0.84[AFR][1000 genomes]
rs60625761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60888502	0.84[AFR][1000 genomes]
rs61231068	0.82[AFR][1000 genomes]
rs73578337	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578347	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580474	1.00[AFR][1000 genomes]
rs73582544	1.00[AFR][1000 genomes]
rs73582555	1.00[AFR][1000 genomes]
rs73582556	1.00[AFR][1000 genomes]
rs73582558	1.00[AFR][1000 genomes]
rs73582562	1.00[AFR][1000 genomes]
rs73582566	1.00[AFR][1000 genomes]
rs73582567	1.00[AFR][1000 genomes]
rs73582568	1.00[AFR][1000 genomes]
rs73582569	0.94[AFR][1000 genomes]
rs73582571	0.94[AFR][1000 genomes]
rs73582577	0.94[AFR][1000 genomes]
rs73584564	0.84[AFR][1000 genomes]
rs73586382	0.82[AFR][1000 genomes]
rs73586385	0.84[AFR][1000 genomes]
rs73586390	0.84[AFR][1000 genomes]
rs73586391	0.84[AFR][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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:142720600-142736800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:142721600-142749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:142722000-142743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:142726200-142736000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:142726600-142737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:142726800-142738000	Weak transcription	Stomach Mucosa	stomach
8	chr6:142727000-142743400	Strong transcription	HepG2	liver
9	chr6:142728400-142736800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:142729200-142743200	Strong transcription	Liver	Liver
11	chr6:142730200-142747600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:142730400-142738200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:142731200-142737000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:142731600-142737600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:142732600-142737000	Weak transcription	Primary T cells from cord blood	blood
16	chr6:142733000-142738600	Enhancers	NHDF-Ad	bronchial
17	chr6:142733200-142735800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:142733200-142735800	Enhancers	NHEK	skin
19	chr6:142733200-142736000	Enhancers	NHLF	lung
20	chr6:142733400-142735800	Enhancers	NH-A	brain
21	chr6:142733400-142737600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:142733400-142739200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:142733400-142739200	Enhancers	Osteobl	bone
24	chr6:142733600-142735800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:142733600-142735800	Enhancers	HMEC	breast
26	chr6:142733600-142736800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:142733600-142737800	Enhancers	HSMMtube	muscle
28	chr6:142733800-142736800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:142733800-142736800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:142733800-142736800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:142733800-142736800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:142733800-142738600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:142733800-142758000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:142734200-142737000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:142734200-142739200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:142734600-142735800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:142734600-142738200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:142734800-142735800	Enhancers	Aorta	Aorta
39	chr6:142734800-142736800	Strong transcription	Fetal Lung	lung
40	chr6:142734800-142738800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:142734800-142743200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:142735000-142735800	Enhancers	Fetal Brain Male	brain
43	chr6:142735000-142736000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:142735000-142736200	Genic enhancers	HSMM	muscle
45	chr6:142735000-142736600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:142735000-142737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:142735200-142736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:142735200-142736800	Weak transcription	Placenta	Placenta
49	chr6:142735200-142738400	Genic enhancers	A549	lung
50	chr6:142735200-142760200	Weak transcription	Esophagus	oesophagus

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