Variant report

Variant	rs7243917
Chromosome Location	chr18:12599042-12599043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12598216..12599917-chr18:12611119..12613294,2	MCF-7	breast:
2	chr18:12594070..12599084-chr18:12599553..12605396,7	K562	blood:
3	chr18:12548166..12550496-chr18:12597358..12599512,2	MCF-7	breast:
4	chr18:12596844..12599084-chr18:12603896..12607483,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11874912	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875046	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876168	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155734	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45460897	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503307	1.00[CHB][hapmap]
rs529538	1.00[CHB][hapmap]
rs558090	1.00[CHB][hapmap]
rs55857671	1.00[ASN][1000 genomes]
rs55914043	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089701	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132337	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152190	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271712	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359953	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56392324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56792052	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56909423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573390	1.00[CHB][hapmap]
rs58011896	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61470666	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226376	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7244345	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12590800-12599200	Weak transcription	Liver	Liver
2	chr18:12594600-12600400	Enhancers	HepG2	liver
3	chr18:12595400-12599400	Enhancers	Fetal Heart	heart
4	chr18:12595400-12600400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr18:12595600-12600400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12595600-12600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:12595600-12600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:12595800-12600600	Enhancers	HMEC	breast
9	chr18:12596000-12599200	Enhancers	Fetal Lung	lung
10	chr18:12596000-12599600	Enhancers	Fetal Kidney	kidney
11	chr18:12596200-12599200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:12596600-12600000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:12596800-12599200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:12596800-12599600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:12596800-12599800	Enhancers	Fetal Brain Female	brain
16	chr18:12596800-12600400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:12596800-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:12596800-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:12596800-12600600	Enhancers	NHDF-Ad	bronchial
21	chr18:12596800-12600600	Enhancers	NHEK	skin
22	chr18:12597000-12599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:12597000-12600200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr18:12597000-12605800	Weak transcription	Gastric	stomach
25	chr18:12597000-12605800	Weak transcription	K562	blood
26	chr18:12597000-12606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr18:12597200-12600000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:12597200-12600400	Enhancers	NHLF	lung
29	chr18:12597400-12599800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:12597400-12600400	Enhancers	Primary T cells from cord blood	blood
31	chr18:12597600-12600400	Enhancers	HSMM	muscle
32	chr18:12597800-12610800	Weak transcription	Right Ventricle	heart
33	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
34	chr18:12598000-12599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:12598000-12600000	Enhancers	A549	lung
36	chr18:12598000-12600400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:12598000-12600400	Enhancers	Osteobl	bone
38	chr18:12598000-12600600	Enhancers	HSMMtube	muscle
39	chr18:12598000-12601800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:12598000-12601800	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:12598000-12601800	Weak transcription	Fetal Thymus	thymus
42	chr18:12598000-12606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:12598000-12607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:12598000-12607200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr18:12598000-12610000	Weak transcription	Lung	lung
46	chr18:12598200-12600400	Enhancers	Primary hematopoietic stem cells	blood
47	chr18:12598200-12606800	Weak transcription	Brain Anterior Caudate	brain
48	chr18:12598600-12600000	Enhancers	Pancreas	Pancrea
49	chr18:12598600-12608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr18:12598800-12599600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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