Variant report

Variant	rs527550
Chromosome Location	chr11:66389040-66389041
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	chr11:66372929..66374706-chr11:66388888..66391627,2	MCF-7	breast:
2	chr11:66388804..66391779-chr11:66613540..66615544,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13897	0.89[ASN][1000 genomes]
rs17147749	0.89[ASN][1000 genomes]
rs2290463	0.89[ASN][1000 genomes]
rs3782079	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs477335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs478807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs479261	0.82[AMR][1000 genomes]
rs519380	0.86[ASN][1000 genomes]
rs55662252	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56146874	0.83[AFR][1000 genomes]
rs563344	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56680801	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56848911	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57206977	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57220229	0.91[AMR][1000 genomes]
rs573673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575797	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59057733	0.83[AFR][1000 genomes]
rs59792175	0.83[AFR][1000 genomes]
rs60084486	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60395535	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61675228	0.83[AFR][1000 genomes]
rs623022	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs639938	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs645307	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs648491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs744465	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66384200-66389200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:66386000-66390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66386200-66398400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:66386400-66391600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66386600-66390200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:66386600-66390200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:66386600-66391600	Enhancers	Stomach Mucosa	stomach
9	chr11:66386800-66389200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66386800-66389200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:66386800-66389200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:66386800-66390000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:66386800-66390200	Weak transcription	Fetal Kidney	kidney
14	chr11:66386800-66390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:66386800-66390400	Weak transcription	Aorta	Aorta
16	chr11:66386800-66391600	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr11:66386800-66393200	Weak transcription	HSMMtube	muscle
18	chr11:66386800-66393400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:66387000-66389200	Enhancers	Primary B cells from cord blood	blood
21	chr11:66387000-66389400	Genic enhancers	K562	blood
22	chr11:66387000-66390800	Genic enhancers	A549	lung
23	chr11:66387000-66391200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:66387000-66391200	Genic enhancers	Osteobl	bone
25	chr11:66387000-66391600	Enhancers	Fetal Heart	heart
26	chr11:66387000-66392600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:66387000-66393600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:66387000-66403400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:66387400-66389200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:66387400-66390000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:66387400-66390600	Enhancers	Rectal Smooth Muscle	rectum
32	chr11:66387600-66389600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:66387600-66389800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:66387600-66389800	Enhancers	Adipose Nuclei	Adipose
35	chr11:66387600-66390000	Weak transcription	Fetal Brain Male	brain
36	chr11:66387600-66390000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:66387600-66390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:66387600-66390400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:66387600-66390400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:66387600-66390600	Weak transcription	Colonic Mucosa	Colon
41	chr11:66387600-66391200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:66387600-66392400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr11:66387600-66397000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr11:66387600-66401800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:66387800-66390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:66387800-66390000	Strong transcription	Fetal Intestine Small	intestine
47	chr11:66387800-66390200	Weak transcription	NHDF-Ad	bronchial
48	chr11:66387800-66391000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:66387800-66391200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:66387800-66391200	Enhancers	Small Intestine	intestine

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