Variant report

Variant	rs58352880
Chromosome Location	chr11:73023448-73023449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73023357-73023480	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73017816..73020717-chr11:73023250..73027680,5	K562	blood:

Variant related genes	Relation type
ENSG00000257038	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000257038	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57132806	1.00[AFR][1000 genomes]
rs57422730	0.93[AFR][1000 genomes]
rs57661356	0.93[AFR][1000 genomes]
rs57903912	1.00[AFR][1000 genomes]
rs59000654	0.90[AFR][1000 genomes]
rs60148500	0.93[AFR][1000 genomes]
rs60848410	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73018800-73026200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:73019800-73024600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:73020600-73024800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
4	chr11:73020600-73025000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:73020600-73025000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
6	chr11:73020600-73025200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr11:73020600-73026400	Flanking Active TSS	HepG2	liver
8	chr11:73020600-73026600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:73020800-73023600	Flanking Active TSS	Right Ventricle	heart
10	chr11:73020800-73024600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:73020800-73024600	Flanking Active TSS	Ovary	ovary
12	chr11:73020800-73024600	Weak transcription	Small Intestine	intestine
13	chr11:73020800-73024600	Weak transcription	NHEK	skin
14	chr11:73020800-73024800	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr11:73020800-73028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:73021000-73024400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:73021000-73025000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:73021000-73026200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
19	chr11:73021000-73027200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:73021200-73023600	Transcr. at gene 5' and 3'	NHLF	lung
21	chr11:73021200-73023800	Weak transcription	Liver	Liver
22	chr11:73021200-73024200	Active TSS	Duodenum Mucosa	Duodenum
23	chr11:73021200-73025000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:73021200-73025600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
25	chr11:73021600-73024400	Flanking Active TSS	Right Atrium	heart
26	chr11:73021800-73023600	Active TSS	Brain Hippocampus Middle	brain
27	chr11:73021800-73025200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:73022000-73024200	Weak transcription	Stomach Mucosa	stomach
29	chr11:73022000-73025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:73022200-73023800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:73022200-73023800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:73022200-73024000	Active TSS	Colonic Mucosa	Colon
33	chr11:73022200-73024000	Active TSS	Psoas Muscle	Psoas
34	chr11:73022200-73024800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:73022200-73025000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr11:73022200-73025200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:73022200-73026000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:73022200-73026400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:73022200-73026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:73022400-73025200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr11:73022400-73025200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:73022400-73026000	Flanking Active TSS	NH-A	brain
43	chr11:73022600-73023800	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:73022600-73023800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:73022600-73024000	Active TSS	Brain Angular Gyrus	brain
46	chr11:73022600-73024200	Flanking Active TSS	Fetal Lung	lung
47	chr11:73022600-73024200	Flanking Active TSS	Hela-S3	cervix
48	chr11:73022600-73024200	Flanking Active TSS	HMEC	breast
49	chr11:73022600-73024400	Active TSS	Fetal Kidney	kidney
50	chr11:73022600-73024600	Flanking Active TSS	Fetal Heart	heart

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