Variant report

Variant	rs59911600
Chromosome Location	chr14:72986859-72986860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72985322..72986876-chr14:72989675..72992463,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10131083	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10138138	0.84[EUR][1000 genomes]
rs10147108	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1017082	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1017083	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11158960	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11620663	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621407	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11621791	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11622246	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11622509	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11623039	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11623448	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11623449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11626185	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11628539	0.85[AMR][1000 genomes]
rs11628659	0.84[EUR][1000 genomes]
rs11629448	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11844952	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17180712	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1859475	0.85[EUR][1000 genomes]
rs2023957	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238171	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2238174	0.86[EUR][1000 genomes]
rs2238175	0.85[EUR][1000 genomes]
rs2238176	0.85[EUR][1000 genomes]
rs2286072	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28499014	0.86[EUR][1000 genomes]
rs28698186	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28788858	0.92[EUR][1000 genomes]
rs3784043	0.85[AMR][1000 genomes]
rs3784044	0.92[EUR][1000 genomes]
rs4346151	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4419001	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4617784	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4617785	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5008274	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56989014	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57126808	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58049100	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7144114	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7144560	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7161138	0.86[EUR][1000 genomes]
rs7161176	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7161290	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7161351	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73300706	0.85[EUR][1000 genomes]
rs7493857	0.88[EUR][1000 genomes]
rs757654	0.99[EUR][1000 genomes]
rs8008812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009340	0.84[EUR][1000 genomes]
rs8009343	0.91[EUR][1000 genomes]
rs8010440	0.82[EUR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72982800-72987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:72983400-72987200	Enhancers	Fetal Thymus	thymus
4	chr14:72983600-72987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
6	chr14:72983800-72987000	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:72984000-72994800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:72984200-72990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:72984200-72994400	Weak transcription	Fetal Stomach	stomach
10	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:72984600-72988800	Weak transcription	Fetal Lung	lung
12	chr14:72984800-72987000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:72984800-72989400	Weak transcription	Liver	Liver
14	chr14:72984800-72989600	Weak transcription	Ovary	ovary
15	chr14:72984800-72995400	Weak transcription	Osteobl	bone
16	chr14:72985000-72988800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:72985600-72987000	Weak transcription	HSMM	muscle
18	chr14:72985600-72990000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:72985800-72987000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:72985800-72989800	Weak transcription	Adipose Nuclei	Adipose
21	chr14:72985800-72990000	Weak transcription	Spleen	Spleen
22	chr14:72986000-72987400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:72986000-72987800	Enhancers	Primary B cells from cord blood	blood
24	chr14:72986200-72987600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:72986200-72988800	Weak transcription	Fetal Heart	heart
26	chr14:72986400-72995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:72986600-72987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:72986600-72987000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr14:72986600-72987800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:72986600-72990600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:72986600-72990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:72986600-72990800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:72986600-72990800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:72986600-72991000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:72986800-72989000	ZNF genes & repeats	GM12878-XiMat	blood
36	chr14:72986800-72989200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr14:72986800-72990200	Weak transcription	Primary T cells from cord blood	blood
38	chr14:72986800-72990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:72986800-72996200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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