Variant report

Variant	rs58364325
Chromosome Location	chr11:73054469-73054470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10898917	0.96[ASN][1000 genomes]
rs11235729	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11820037	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	0.96[ASN][1000 genomes]
rs11823923	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824050	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827650	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275766	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293998	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	0.92[ASN][1000 genomes]
rs2027763	0.96[ASN][1000 genomes]
rs2298807	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741149	0.96[ASN][1000 genomes]
rs55771351	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.96[ASN][1000 genomes]
rs56397594	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.81[EUR][1000 genomes]
rs57592318	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs60700454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.96[ASN][1000 genomes]
rs7115605	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122560	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125978	0.96[ASN][1000 genomes]
rs7131383	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725103	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930880	0.96[ASN][1000 genomes]
rs7933754	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936102	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944099	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949364	0.96[ASN][1000 genomes]
rs876480	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947837	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3341893	chr11:73052929-73055477	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73051400-73055400	Weak transcription	HMEC	breast
10	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:73052600-73056000	Enhancers	Fetal Heart	heart
12	chr11:73052800-73054800	Enhancers	Liver	Liver
13	chr11:73052800-73056200	Enhancers	Lung	lung
14	chr11:73053000-73055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73053200-73056200	Enhancers	NHDF-Ad	bronchial
16	chr11:73053200-73056800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:73053400-73054600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:73053400-73055000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:73053400-73055000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:73053400-73055000	Enhancers	Esophagus	oesophagus
21	chr11:73053400-73055800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:73053400-73055800	Enhancers	Brain Substantia Nigra	brain
23	chr11:73053400-73055800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:73053400-73057200	Enhancers	Spleen	Spleen
25	chr11:73053600-73054600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73053600-73054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:73053600-73054600	Active TSS	Fetal Brain Female	brain
28	chr11:73053600-73054600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:73053600-73055800	Enhancers	NH-A	brain
30	chr11:73053600-73056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:73053800-73054600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:73053800-73054600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:73053800-73054600	Active TSS	Brain Angular Gyrus	brain
34	chr11:73053800-73054800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:73053800-73054800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:73053800-73055000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:73053800-73055400	Enhancers	Fetal Lung	lung
38	chr11:73053800-73056200	Weak transcription	HepG2	liver
39	chr11:73053800-73056200	Genic enhancers	NHLF	lung
40	chr11:73053800-73058200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:73053800-73058200	Weak transcription	Gastric	stomach
42	chr11:73053800-73064400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:73053800-73065800	Weak transcription	Fetal Kidney	kidney
44	chr11:73053800-73070000	Weak transcription	HUVEC	blood vessel
45	chr11:73054000-73054600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:73054000-73054600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:73054200-73054600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:73054200-73054600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73054200-73054600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr11:73054200-73054800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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