Variant report

Variant	rs11133473
Chromosome Location	chr4:57904663-57904664
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57903912..57904882-chr4:58024067..58025032,10	MCF-7	breast:
2	chr4:57826172..57827120-chr4:57904247..57904761,2	MCF-7	breast:
3	chr20:46292549..46293115-chr4:57904251..57904779,2	MCF-7	breast:
4	chr4:57842421..57844216-chr4:57903330..57905315,2	K562	blood:
5	chr4:57903844..57905210-chr4:58029367..58030801,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11133472	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11133474	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11573111	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3755906	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4865172	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11133473	RP11-738E22.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
3	chr4:57890400-57905600	Strong transcription	Osteobl	bone
4	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
7	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
8	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
9	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
11	chr4:57898000-57905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
14	chr4:57898200-57910000	Weak transcription	Lung	lung
15	chr4:57898400-57905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
17	chr4:57898800-57905400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:57898800-57908000	Weak transcription	NHDF-Ad	bronchial
19	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
21	chr4:57899400-57905400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:57899400-57905600	Weak transcription	Placenta	Placenta
23	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:57899600-57905400	Weak transcription	NHLF	lung
26	chr4:57899600-57909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:57899600-57913000	Weak transcription	Fetal Intestine Small	intestine
28	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:57899800-57906400	Weak transcription	Adipose Nuclei	Adipose
30	chr4:57899800-57906600	Weak transcription	Fetal Kidney	kidney
31	chr4:57899800-57909400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:57900000-57905200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:57900000-57905800	Weak transcription	Right Ventricle	heart
34	chr4:57900000-57906400	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:57900000-57906400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:57900000-57906400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:57900000-57906600	Weak transcription	Ovary	ovary
38	chr4:57901400-57905200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:57901600-57905200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:57902200-57907200	Strong transcription	HUVEC	blood vessel
41	chr4:57902600-57905400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:57902600-57905600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr4:57902600-57908400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:57902800-57905200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:57902800-57907200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:57903000-57905400	Weak transcription	HSMM	muscle
47	chr4:57903400-57905400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:57903600-57905600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:57903600-57909000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:57903800-57905600	Strong transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links