Variant report

Variant	rs1465396
Chromosome Location	chr5:118639839-118639840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118625535..118627698-chr5:118638238..118640476,2	MCF-7	breast:
2	chr5:118624542..118627216-chr5:118638693..118640326,2	MCF-7	breast:
3	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519579	1.00[EUR][1000 genomes]
rs13153732	1.00[EUR][1000 genomes]
rs13164306	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172935	1.00[EUR][1000 genomes]
rs13180238	0.84[EUR][1000 genomes]
rs13189229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1394630	1.00[EUR][1000 genomes]
rs17145124	1.00[EUR][1000 genomes]
rs17145129	1.00[EUR][1000 genomes]
rs17145142	1.00[EUR][1000 genomes]
rs2012594	1.00[EUR][1000 genomes]
rs34016408	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34207529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34692285	1.00[EUR][1000 genomes]
rs34902535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067404	1.00[EUR][1000 genomes]
rs35113297	1.00[EUR][1000 genomes]
rs35263427	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35605034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623432	0.90[EUR][1000 genomes]
rs35834554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35956442	1.00[EUR][1000 genomes]
rs35981322	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810506	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56840858	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57001486	0.95[EUR][1000 genomes]
rs58196366	1.00[EUR][1000 genomes]
rs59085117	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60474651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61366292	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61643326	1.00[EUR][1000 genomes]
rs6595180	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540474	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874081	1.00[EUR][1000 genomes]
rs6897744	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71585210	0.95[EUR][1000 genomes]
rs71585211	0.84[EUR][1000 genomes]
rs73252330	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73791001	1.00[ASN][1000 genomes]
rs7705109	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999275	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:118635600-118640800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:118635800-118640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:118635800-118641000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:118635800-118641400	Enhancers	Thymus	Thymus
7	chr5:118636000-118640000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:118636000-118640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:118636000-118641400	Enhancers	NHEK	skin
10	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:118636200-118640200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:118636400-118640800	Enhancers	NHDF-Ad	bronchial
14	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:118636600-118641400	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:118636800-118640000	Enhancers	Primary B cells from cord blood	blood
18	chr5:118636800-118641800	Enhancers	HMEC	breast
19	chr5:118637000-118640000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:118637000-118640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:118637000-118640600	Enhancers	HSMM	muscle
22	chr5:118637000-118641200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:118637200-118641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118637600-118641000	Enhancers	NH-A	brain
26	chr5:118637800-118640000	Enhancers	HUVEC	blood vessel
27	chr5:118637800-118640200	Enhancers	NHLF	lung
28	chr5:118637800-118640400	Enhancers	Aorta	Aorta
29	chr5:118637800-118640600	Enhancers	Stomach Mucosa	stomach
30	chr5:118638200-118640200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:118638200-118640200	Enhancers	Fetal Intestine Large	intestine
32	chr5:118638200-118640400	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:118638200-118640400	Enhancers	Fetal Intestine Small	intestine
34	chr5:118638200-118640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:118638200-118640600	Genic enhancers	Dnd41	blood
36	chr5:118638200-118640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:118638400-118640000	Enhancers	GM12878-XiMat	blood
38	chr5:118638400-118640200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:118638400-118640600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:118638600-118640400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr5:118638800-118640000	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr5:118638800-118640400	Enhancers	Adipose Nuclei	Adipose
43	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:118639000-118640000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:118639000-118640200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:118639000-118640400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:118639000-118640400	Genic enhancers	Fetal Thymus	thymus
48	chr5:118639200-118640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:118639200-118641400	Weak transcription	Esophagus	oesophagus
50	chr5:118639200-118641600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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