Variant report

Variant	rs10519581
Chromosome Location	chr5:118639499-118639500
allele	A/G
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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10519575	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519576	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17145135	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56319623	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58131651	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60599743	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67186626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879962	1.00[CEU][hapmap];0.90[JPT][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892980	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897511	0.82[JPT][hapmap]
rs72786106	1.00[ASN][1000 genomes]
rs72786107	0.95[EUR][1000 genomes]
rs72786113	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786116	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786118	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786120	1.00[ASN][1000 genomes]
rs72786122	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786125	0.93[EUR][1000 genomes]
rs73248971	0.93[EUR][1000 genomes]
rs73794107	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73794110	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7701688	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][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:84 , 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	chr5:118637600-118639600	Flanking Active TSS	A549	lung
26	chr5:118637600-118641000	Enhancers	NH-A	brain
27	chr5:118637800-118639800	Enhancers	Fetal Heart	heart
28	chr5:118637800-118640000	Enhancers	HUVEC	blood vessel
29	chr5:118637800-118640200	Enhancers	NHLF	lung
30	chr5:118637800-118640400	Enhancers	Aorta	Aorta
31	chr5:118637800-118640600	Enhancers	Stomach Mucosa	stomach
32	chr5:118638000-118639600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr5:118638200-118640200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:118638200-118640200	Enhancers	Fetal Intestine Large	intestine
35	chr5:118638200-118640400	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:118638200-118640400	Enhancers	Fetal Intestine Small	intestine
37	chr5:118638200-118640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:118638200-118640600	Genic enhancers	Dnd41	blood
39	chr5:118638200-118640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:118638400-118639600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:118638400-118639600	Enhancers	Fetal Lung	lung
42	chr5:118638400-118640000	Enhancers	GM12878-XiMat	blood
43	chr5:118638400-118640200	Enhancers	Colon Smooth Muscle	Colon
44	chr5:118638400-118640600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:118638600-118639600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:118638600-118640400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr5:118638800-118639600	Flanking Active TSS	HepG2	liver
48	chr5:118638800-118640000	Genic enhancers	Primary hematopoietic stem cells	blood
49	chr5:118638800-118640400	Enhancers	Adipose Nuclei	Adipose
50	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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