Variant report

Variant	rs73831583
Chromosome Location	chr3:48593327-48593328
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48540167..48542954-chr3:48592530..48594484,3	MCF-7	breast:
2	chr3:48514328..48516205-chr3:48592157..48594449,2	K562	blood:
3	chr3:48485360..48488247-chr3:48592326..48594026,2	K562	blood:
4	chr3:48588396..48589916-chr3:48592677..48594221,2	K562	blood:
5	chr3:48484123..48488497-chr3:48591865..48597132,6	K562	blood:
6	chr3:48228556..48231473-chr3:48592024..48594297,2	K562	blood:
7	chr3:48507541..48509747-chr3:48593128..48595485,2	MCF-7	breast:
8	chr3:48584950..48588174-chr3:48591529..48594760,3	K562	blood:
9	chr3:48593030..48597118-chr3:48698507..48702121,6	MCF-7	breast:
10	chr3:48510260..48512404-chr3:48592890..48595693,2	MCF-7	breast:
11	chr3:48481270..48483185-chr3:48591513..48595174,3	MCF-7	breast:
12	chr3:48228234..48229903-chr3:48593105..48594708,2	K562	blood:
13	chr3:48586074..48587895-chr3:48593005..48594952,2	MCF-7	breast:
14	chr3:48282593..48284828-chr3:48592710..48595263,2	K562	blood:
15	chr2:106800399..106802309-chr3:48592258..48594170,2	MCF-7	breast:
16	chr3:48592800..48598084-chr3:48598125..48603493,9	MCF-7	breast:
17	chr3:48592797..48594664-chr3:48671142..48674033,2	MCF-7	breast:
18	chr3:48280347..48282561-chr3:48591932..48593845,2	K562	blood:
19	chr3:48592861..48595715-chr3:48598424..48603731,6	K562	blood:
20	chr3:48591611..48596652-chr3:48640512..48642956,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164053	Chromatin interaction
ENSG00000010256	Chromatin interaction
ENSG00000114270	Chromatin interaction
ENSG00000145040	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000213689	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000164048	Chromatin interaction
ENSG00000164045	Chromatin interaction
ENSG00000008300	Chromatin interaction
ENSG00000225697	Chromatin interaction
ENSG00000164051	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2098101	1.00[EUR][1000 genomes]
rs28391653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4075800	1.00[EUR][1000 genomes]
rs55952796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56073014	1.00[EUR][1000 genomes]
rs56841797	1.00[EUR][1000 genomes]
rs61368683	0.87[AFR][1000 genomes]
rs6786152	1.00[EUR][1000 genomes]
rs6787988	1.00[EUR][1000 genomes]
rs73831580	1.00[EUR][1000 genomes]
rs9866124	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48573600-48593400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:48576000-48594000	Weak transcription	Small Intestine	intestine
3	chr3:48578000-48593400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:48581000-48593600	Weak transcription	Right Atrium	heart
5	chr3:48581200-48593600	Weak transcription	Right Ventricle	heart
6	chr3:48581200-48593800	Weak transcription	Ovary	ovary
7	chr3:48584200-48593800	Weak transcription	Aorta	Aorta
8	chr3:48584800-48593600	Weak transcription	NH-A	brain
9	chr3:48585000-48593400	Weak transcription	HSMM	muscle
10	chr3:48585200-48593400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:48585200-48593600	Weak transcription	Osteobl	bone
12	chr3:48585800-48593400	Weak transcription	NHLF	lung
13	chr3:48586400-48593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:48586400-48593400	Enhancers	Pancreas	Pancrea
15	chr3:48586400-48593600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:48586600-48593400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:48586600-48593400	Weak transcription	Adipose Nuclei	Adipose
18	chr3:48586600-48593400	Weak transcription	Brain Angular Gyrus	brain
19	chr3:48586600-48593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:48587200-48593400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:48587400-48593600	Enhancers	Placenta	Placenta
22	chr3:48588000-48593400	Weak transcription	Fetal Stomach	stomach
23	chr3:48589600-48594000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:48590000-48593400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:48590000-48593400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:48590000-48593400	Weak transcription	HSMMtube	muscle
27	chr3:48590400-48593400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:48590400-48593600	Weak transcription	Stomach Mucosa	stomach
29	chr3:48591000-48593400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:48591400-48593400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:48591600-48593400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:48591600-48593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:48591600-48593400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:48591600-48593400	Enhancers	Brain Germinal Matrix	brain
35	chr3:48591600-48593600	Enhancers	Fetal Brain Male	brain
36	chr3:48591800-48593400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:48591800-48593400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:48592000-48593400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:48592000-48593600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:48592000-48593800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:48592200-48593600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:48592400-48593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:48592400-48593600	Weak transcription	Gastric	stomach
44	chr3:48592400-48594000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:48592400-48594200	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr3:48592600-48593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:48592600-48593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:48592600-48593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:48592600-48593400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:48592600-48593400	Enhancers	Brain Hippocampus Middle	brain

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