Variant report

Variant	rs11133372
Chromosome Location	chr4:56213804-56213805
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
5	chr4:56211857..56214149-chr4:56223596..56225330,2	K562	blood:
6	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
7	chr4:56212201..56215605-chr4:56218401..56220453,4	MCF-7	breast:
8	chr4:56211245..56214093-chr4:56502603..56505420,3	K562	blood:
9	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
10	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
11	chr4:56213251..56215609-chr4:56227634..56229656,2	MCF-7	breast:
12	chr4:56212775..56214508-chr4:56411805..56414678,2	K562	blood:
13	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
14	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
15	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
16	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203615	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000109255	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7673512	0.83[AFR][1000 genomes]
rs7690827	0.84[AFR][1000 genomes]
rs7692806	0.81[AFR][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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56212000-56214000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:56212800-56214400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:56213000-56214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:56213000-56214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:56213000-56214400	Flanking Active TSS	K562	blood
6	chr4:56213000-56215000	Flanking Active TSS	Dnd41	blood
7	chr4:56213200-56214000	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr4:56213200-56214000	Flanking Active TSS	Hela-S3	cervix
9	chr4:56213200-56214200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:56213200-56214200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:56213200-56214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:56213200-56214600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
15	chr4:56213400-56214000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:56213400-56214000	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:56213400-56214000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:56213400-56214000	Enhancers	Liver	Liver
19	chr4:56213400-56214000	Enhancers	Colonic Mucosa	Colon
20	chr4:56213400-56214000	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:56213400-56214000	Enhancers	Fetal Muscle Leg	muscle
22	chr4:56213400-56214000	Weak transcription	A549	lung
23	chr4:56213400-56214400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:56213400-56214400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:56213400-56214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:56213400-56214600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:56213400-56214800	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:56213400-56215000	Enhancers	HUVEC	blood vessel
29	chr4:56213400-56215200	Enhancers	Fetal Lung	lung
30	chr4:56213400-56215200	Enhancers	Stomach Mucosa	stomach
31	chr4:56213400-56215200	Enhancers	NHDF-Ad	bronchial
32	chr4:56213400-56215200	Enhancers	Osteobl	bone
33	chr4:56213400-56215400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:56213400-56217000	Weak transcription	Fetal Stomach	stomach
35	chr4:56213400-56217200	Weak transcription	Lung	lung
36	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
37	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
38	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
39	chr4:56213600-56214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:56213600-56214000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:56213600-56214000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:56213600-56214000	Enhancers	Fetal Thymus	thymus
43	chr4:56213600-56214000	Enhancers	Thymus	Thymus
44	chr4:56213600-56214000	Weak transcription	NHLF	lung
45	chr4:56213600-56214200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr4:56213600-56214200	Enhancers	Adipose Nuclei	Adipose
47	chr4:56213600-56214200	Enhancers	Colon Smooth Muscle	Colon
48	chr4:56213600-56214200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:56213600-56214400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:56213600-56214400	Enhancers	GM12878-XiMat	blood

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