Variant report

Variant	rs519287
Chromosome Location	chr11:58945863-58945864
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58945073..58946911-chr11:58949178..58951087,3	K562	blood:
2	chr11:58944511..58946573-chr11:58949510..58951087,2	K562	blood:
3	chr11:58939445..58943273-chr11:58944616..58948860,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110042	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2096585	1.00[AMR][1000 genomes]
rs2844343	1.00[AMR][1000 genomes]
rs56963795	1.00[AMR][1000 genomes]
rs58024146	1.00[AMR][1000 genomes]
rs58355571	1.00[AMR][1000 genomes]
rs58599185	1.00[AMR][1000 genomes]
rs60845282	1.00[AMR][1000 genomes]
rs61149043	1.00[AMR][1000 genomes]
rs61178453	1.00[AMR][1000 genomes]
rs679460	0.91[AFR][1000 genomes]
rs73474706	1.00[AMR][1000 genomes]
rs73476916	1.00[AMR][1000 genomes]
rs73476930	1.00[AMR][1000 genomes]
rs73476938	1.00[AMR][1000 genomes]
rs73476939	1.00[AMR][1000 genomes]
rs73485212	1.00[AMR][1000 genomes]
rs73485235	1.00[AMR][1000 genomes]
rs73487315	1.00[AMR][1000 genomes]
rs73487322	1.00[AMR][1000 genomes]
rs73487327	1.00[AMR][1000 genomes]
rs73487334	1.00[AMR][1000 genomes]
rs73489468	1.00[AMR][1000 genomes]
rs73489478	1.00[AMR][1000 genomes]
rs73489480	1.00[AMR][1000 genomes]
rs73489486	1.00[AMR][1000 genomes]
rs73489493	1.00[AMR][1000 genomes]
rs73489497	1.00[AMR][1000 genomes]
rs73491310	1.00[AMR][1000 genomes]
rs73491319	1.00[AMR][1000 genomes]
rs73491327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58941200-58949200	Weak transcription	Aorta	Aorta
2	chr11:58941200-58949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:58941600-58964000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:58942000-58950000	Enhancers	Brain Substantia Nigra	brain
5	chr11:58942200-58946400	Enhancers	Brain Hippocampus Middle	brain
6	chr11:58942200-58949400	Weak transcription	NHLF	lung
7	chr11:58942200-58951600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:58942400-58946400	Enhancers	Fetal Lung	lung
9	chr11:58942400-58951000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:58942600-58947000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:58942600-58948000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:58942600-58949000	Weak transcription	Spleen	Spleen
13	chr11:58942600-58951000	Weak transcription	Esophagus	oesophagus
14	chr11:58942800-58946400	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:58942800-58949200	Weak transcription	Brain Germinal Matrix	brain
16	chr11:58943000-58946200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:58943000-58947800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:58943200-58946400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:58943200-58947000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:58943200-58947800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:58943200-58949000	Weak transcription	Gastric	stomach
22	chr11:58943200-58949200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:58943400-58947000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:58943400-58949000	Weak transcription	HSMM	muscle
25	chr11:58943400-58949400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:58943400-58950200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:58943400-58952600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:58943400-58954800	Weak transcription	Hela-S3	cervix
29	chr11:58943600-58946000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:58943600-58947000	Weak transcription	HMEC	breast
31	chr11:58943600-58947400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr11:58943600-58949200	Weak transcription	Colonic Mucosa	Colon
33	chr11:58943600-58975400	Weak transcription	NHEK	skin
34	chr11:58943800-58946200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:58943800-58949200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:58943800-58950200	Strong transcription	Fetal Stomach	stomach
37	chr11:58944000-58950000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:58944200-58946400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:58944200-58946800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:58944200-58949800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:58944200-58950000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr11:58944200-58950200	Weak transcription	Small Intestine	intestine
43	chr11:58944400-58946000	Enhancers	Fetal Kidney	kidney
44	chr11:58944400-58947600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:58944400-58947600	Weak transcription	Stomach Mucosa	stomach
46	chr11:58944600-58947600	Weak transcription	Fetal Brain Male	brain
47	chr11:58944800-58946800	Enhancers	HSMMtube	muscle
48	chr11:58944800-58947200	Weak transcription	Lung	lung
49	chr11:58944800-58949000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:58944800-58949000	Weak transcription	Adipose Nuclei	Adipose

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