Variant report

Variant	rs56221247
Chromosome Location	chr11:65543168-65543169
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65463670..65466251-chr11:65542574..65544907,2	K562	blood:
2	chr11:65526354..65531692-chr11:65541770..65544711,4	K562	blood:
3	chr11:65541440..65543301-chr11:65615603..65618141,2	MCF-7	breast:
4	chr11:65542483..65544503-chr11:65618278..65620229,2	K562	blood:
5	chr11:65477516..65483320-chr11:65539054..65543224,6	MCF-7	breast:
6	chr11:65542097..65543691-chr11:65617255..65620134,2	MCF-7	breast:
7	chr11:65541717..65544570-chr11:65625545..65627140,2	MCF-7	breast:
8	chr11:65542929..65545137-chr11:65617761..65620123,2	K562	blood:
9	chr11:65541377..65543280-chr11:65554210..65556466,3	K562	blood:
10	chr11:65509847..65512521-chr11:65541079..65543934,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11823278	0.97[AFR][1000 genomes]
rs11825070	0.83[AMR][1000 genomes]
rs11826647	0.83[AMR][1000 genomes]
rs56070121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56311201	0.97[AFR][1000 genomes]
rs56335403	0.83[AMR][1000 genomes]
rs57096718	0.97[AFR][1000 genomes]
rs58260755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60917081	0.83[AMR][1000 genomes]
rs7121450	0.97[AFR][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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65532600-65544000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:65533600-65543600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:65534200-65544600	Weak transcription	Osteobl	bone
4	chr11:65534400-65543800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:65537000-65543800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:65537400-65544200	Weak transcription	NHLF	lung
7	chr11:65537400-65544400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:65537400-65544400	Weak transcription	Dnd41	blood
9	chr11:65537400-65544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:65537400-65544600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:65537400-65544600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:65537400-65544800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:65537400-65545200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:65537400-65546600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:65537400-65546600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:65537600-65544200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:65537600-65545000	Weak transcription	Aorta	Aorta
18	chr11:65537600-65546600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:65537800-65543800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:65537800-65543800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:65537800-65546800	Weak transcription	K562	blood
22	chr11:65538800-65543800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:65538800-65544400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:65539000-65544200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:65539000-65544200	Weak transcription	Gastric	stomach
26	chr11:65539000-65544400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:65539400-65543800	Weak transcription	Fetal Intestine Large	intestine
28	chr11:65539600-65543800	Weak transcription	HepG2	liver
29	chr11:65539600-65546600	Weak transcription	Stomach Mucosa	stomach
30	chr11:65540200-65544800	Weak transcription	HUVEC	blood vessel
31	chr11:65540400-65543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:65540400-65543800	Weak transcription	HSMM	muscle
33	chr11:65540600-65544200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:65540600-65545800	Weak transcription	Brain Substantia Nigra	brain
35	chr11:65540800-65544200	Weak transcription	Brain Germinal Matrix	brain
36	chr11:65541000-65544200	Weak transcription	Fetal Thymus	thymus
37	chr11:65541200-65544400	Weak transcription	Fetal Brain Female	brain
38	chr11:65541200-65544600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:65541400-65544600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:65541600-65543600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:65541600-65543800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:65541600-65544200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:65541800-65543800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:65541800-65544000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:65541800-65544800	Enhancers	Pancreas	Pancrea
46	chr11:65542000-65543800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:65542000-65544000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:65542000-65544800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:65542000-65546400	Strong transcription	Fetal Intestine Small	intestine
50	chr11:65542200-65543200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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