Variant report

Variant	rs56254718
Chromosome Location	chr11:34931808-34931809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34930292..34932707-chr11:35355903..35358489,2	K562	blood:
2	chr11:34927454..34929735-chr11:34930952..34932783,2	K562	blood:
3	chr11:34928718..34934554-chr11:34935181..34939232,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149089	Chromatin interaction
ENSG00000110435	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56104047	1.00[AMR][1000 genomes]
rs56105539	1.00[AMR][1000 genomes]
rs56168947	1.00[AMR][1000 genomes]
rs56204451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56406221	1.00[AMR][1000 genomes]
rs57951883	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58208535	1.00[AMR][1000 genomes]
rs58295829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864846	1.00[AMR][1000 genomes]
rs58907934	1.00[AMR][1000 genomes]
rs59184525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60295827	1.00[AMR][1000 genomes]
rs60766133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34920000-34935800	Weak transcription	Fetal Heart	heart
2	chr11:34922400-34936600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:34922400-34936600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:34922600-34936200	Weak transcription	Right Ventricle	heart
5	chr11:34922600-34936600	Weak transcription	NHEK	skin
6	chr11:34922800-34936600	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:34923000-34934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:34923000-34934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:34923000-34936000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:34923000-34936800	Weak transcription	Colonic Mucosa	Colon
11	chr11:34923200-34936600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:34923200-34936600	Weak transcription	NHLF	lung
13	chr11:34923400-34935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:34923400-34935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:34923600-34935200	Weak transcription	NHDF-Ad	bronchial
16	chr11:34923600-34936200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:34923600-34937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:34923800-34932200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:34924200-34932400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:34924200-34936200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:34925000-34936600	Weak transcription	Fetal Kidney	kidney
22	chr11:34925000-34937000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:34925200-34934400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:34925200-34936600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:34925200-34936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:34925600-34934400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:34925600-34936600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:34925600-34937000	Weak transcription	Ovary	ovary
29	chr11:34926200-34936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34926400-34935400	Weak transcription	Dnd41	blood
31	chr11:34926400-34935600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:34928400-34932000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:34928800-34934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:34929200-34937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:34929400-34933000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:34929400-34933200	Enhancers	HepG2	liver
37	chr11:34929400-34936600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:34929400-34936600	Weak transcription	Osteobl	bone
39	chr11:34929800-34932200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:34929800-34932400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:34929800-34932800	Genic enhancers	K562	blood
42	chr11:34929800-34933200	Enhancers	Thymus	Thymus
43	chr11:34929800-34936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:34930000-34932600	Enhancers	Small Intestine	intestine
45	chr11:34930000-34932800	Enhancers	Psoas Muscle	Psoas
46	chr11:34930000-34932800	Enhancers	Stomach Mucosa	stomach
47	chr11:34930000-34933400	Enhancers	Pancreas	Pancrea
48	chr11:34930000-34934600	Enhancers	Adipose Nuclei	Adipose
49	chr11:34930200-34932400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:34930200-34934200	Weak transcription	Fetal Intestine Small	intestine

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