Variant report

Variant	rs7242404
Chromosome Location	chr18:12741267-12741268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12740701..12743210-chr18:12882198..12885032,2	MCF-7	breast:
2	chr18:12740652..12742323-chr18:12932968..12935148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11080598	0.86[ASN][1000 genomes]
rs11080599	0.85[ASN][1000 genomes]
rs11660234	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11660242	0.81[ASN][1000 genomes]
rs11660496	0.85[ASN][1000 genomes]
rs11662231	0.85[ASN][1000 genomes]
rs11664306	0.84[ASN][1000 genomes]
rs11665591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457255	0.84[ASN][1000 genomes]
rs12958395	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12959287	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12964137	0.84[ASN][1000 genomes]
rs12970808	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17655374	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1833325	0.85[ASN][1000 genomes]
rs2096863	0.83[ASN][1000 genomes]
rs2105665	0.83[ASN][1000 genomes]
rs34114998	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34946503	0.85[ASN][1000 genomes]
rs7232246	0.82[ASN][1000 genomes]
rs888262	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv909405	chr18:12727224-12750499	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv909406	chr18:12727224-12761498	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12723000-12748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12727000-12745800	Weak transcription	Thymus	Thymus
3	chr18:12738600-12744600	Strong transcription	Dnd41	blood
4	chr18:12739600-12742000	Enhancers	Osteobl	bone
5	chr18:12740400-12741800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:12740400-12744800	Enhancers	NHEK	skin
7	chr18:12740600-12741400	Enhancers	HMEC	breast
8	chr18:12740600-12741400	Enhancers	NHLF	lung
9	chr18:12740600-12743800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:12740800-12741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12740800-12741600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:12740800-12741800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:12740800-12741800	Flanking Active TSS	A549	lung
14	chr18:12740800-12741800	Enhancers	NH-A	brain
15	chr18:12740800-12742000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:12740800-12746200	Enhancers	NHDF-Ad	bronchial
17	chr18:12741000-12741600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr18:12741000-12741800	Enhancers	K562	blood
19	chr18:12741000-12742400	Genic enhancers	Fetal Thymus	thymus
20	chr18:12741000-12742600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:12741200-12741400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:12741200-12741400	Enhancers	HSMM	muscle
23	chr18:12741200-12741600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:12741200-12741800	Flanking Active TSS	Hela-S3	cervix
25	chr18:12741200-12741800	Flanking Active TSS	HepG2	liver
26	chr18:12741200-12742400	Enhancers	Placenta	Placenta
27	chr18:12741200-12749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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