Variant report

Variant	rs73480945
Chromosome Location	chr11:64971766-64971767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64971660-64971810	HBMEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:64971446-64971892	K562	blood:	n/a	n/a
3	POLR2A	chr11:64971470-64972939	GM12878	blood:	n/a	n/a
4	CTCF	chr11:64971660-64971810	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:64971761-64972389	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64936336..64940512-chr11:64971358..64975789,6	K562	blood:
2	chr11:64971260..64972815-chr11:64980929..64982967,2	MCF-7	breast:
3	chr11:64899593..64901908-chr11:64970549..64972656,2	MCF-7	breast:
4	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
5	chr11:64893476..64896205-chr11:64971626..64973618,2	MCF-7	breast:
6	chr11:64970739..64974089-chr11:64974208..64977287,3	MCF-7	breast:
7	chr11:64971476..64974012-chr11:65120745..65123474,2	K562	blood:
8	chr11:64901611..64904567-chr11:64970669..64973165,2	MCF-7	breast:
9	chr11:64971026..64972779-chr11:65020201..65021719,2	MCF-7	breast:
10	chr11:64971230..64973268-chr11:64975378..64976956,2	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000014216	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000173825	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000254614	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17880641	1.00[AMR][1000 genomes]
rs17881255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884545	1.00[AMR][1000 genomes]
rs17886562	1.00[AMR][1000 genomes]
rs73480936	1.00[AMR][1000 genomes]
rs9333584	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950400-64973200	Weak transcription	Fetal Kidney	kidney
2	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
3	chr11:64951000-64973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64951000-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:64951200-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:64951400-64979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:64951600-64976400	Weak transcription	Fetal Brain Male	brain
8	chr11:64951600-64979600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64952400-64972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64952400-64980200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:64952400-64992800	Weak transcription	Fetal Heart	heart
12	chr11:64952800-64978000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64953600-64971800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:64953600-64978600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:64954600-64973400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:64955200-64973000	Weak transcription	Stomach Mucosa	stomach
17	chr11:64957400-64973200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:64957600-64973000	Weak transcription	Brain Angular Gyrus	brain
19	chr11:64957600-64975600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:64958000-64972200	Weak transcription	HepG2	liver
21	chr11:64958000-64972400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:64958000-64972600	Weak transcription	Brain Anterior Caudate	brain
23	chr11:64958000-64972600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:64958000-64973200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:64958000-64973800	Weak transcription	Psoas Muscle	Psoas
26	chr11:64958200-64972000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:64958600-64973000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:64959800-64972600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:64960000-64972600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:64960400-64971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:64961200-64972000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:64961800-64972000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:64962400-64971800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:64962400-64972600	Weak transcription	Hela-S3	cervix
35	chr11:64962400-64972800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:64962600-64972600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:64962800-64976800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:64963000-64973400	Weak transcription	Small Intestine	intestine
39	chr11:64963000-64975400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:64963200-64974200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:64963400-64972200	Weak transcription	K562	blood
42	chr11:64963400-64972400	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:64964200-64980000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:64964400-64972000	Strong transcription	Fetal Intestine Large	intestine
45	chr11:64964400-64979800	Strong transcription	Fetal Stomach	stomach
46	chr11:64964400-64981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:64964600-64972600	Weak transcription	NH-A	brain
48	chr11:64965000-64972000	Strong transcription	Fetal Intestine Small	intestine
49	chr11:64965000-64975800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:64965600-64975000	Strong transcription	Lung	lung

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