Variant report

Variant	rs58196703
Chromosome Location	chr2:11829100-11829101
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
2	chr2:11683416..11684960-chr2:11826998..11829843,2	MCF-7	breast:
3	chr2:11827607..11830089-chr2:11831192..11833222,2	K562	blood:
4	chr2:11828369..11829399-chr2:11919036..11920400,7	MCF-7	breast:
5	chr2:11622770..11625345-chr2:11826653..11829595,2	MCF-7	breast:
6	chr2:11828699..11830318-chr2:11834371..11836055,2	K562	blood:
7	chr2:11827642..11829503-chr2:11889193..11891335,2	MCF-7	breast:
8	chr2:11827483..11829689-chr2:11917659..11919451,2	MCF-7	breast:
9	chr2:11828589..11830504-chr2:11831137..11833222,3	K562	blood:
10	chr2:11794181..11796094-chr2:11829058..11830881,2	K562	blood:
11	chr2:11617820..11619664-chr2:11828813..11830346,2	MCF-7	breast:
12	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:
13	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
14	chr2:11827992..11829682-chr2:11882728..11885708,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230790	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10164822	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10182021	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10206665	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10209047	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13386239	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13387137	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390584	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13398067	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13407243	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13407481	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13420573	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13426765	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13428600	0.83[AMR][1000 genomes]
rs13431864	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13432334	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4622687	0.81[EUR][1000 genomes]
rs55773509	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57281558	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6432232	0.90[EUR][1000 genomes]
rs6432233	0.90[EUR][1000 genomes]
rs66763856	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6708244	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6716051	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6716192	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6725991	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6736015	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6748533	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7560325	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7570592	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7573725	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7580112	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7588803	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7591517	0.86[AMR][1000 genomes];0.88[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv527025	chr2:11823585-11833459	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11827600-11829400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr2:11827800-11829200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:11827800-11829200	Enhancers	Placenta	Placenta
4	chr2:11827800-11829400	Enhancers	Brain Substantia Nigra	brain
5	chr2:11827800-11829600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr2:11828000-11829200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:11828000-11829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:11828000-11829200	Enhancers	Liver	Liver
9	chr2:11828000-11829400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:11828000-11829400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:11828200-11829200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:11828200-11829200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:11828200-11829200	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:11828200-11829200	Enhancers	Primary T cells from cord blood	blood
15	chr2:11828200-11829200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:11828200-11829200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:11828200-11829200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:11828200-11829200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:11828200-11829200	Enhancers	Fetal Intestine Large	intestine
20	chr2:11828200-11829200	Enhancers	Fetal Lung	lung
21	chr2:11828200-11829200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr2:11828200-11829200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:11828200-11829200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:11828200-11829200	Flanking Active TSS	K562	blood
25	chr2:11828200-11829400	Enhancers	Primary B cells from cord blood	blood
26	chr2:11828400-11829200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:11828400-11829200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr2:11828400-11829200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:11828400-11829200	Flanking Active TSS	Right Ventricle	heart
30	chr2:11828600-11829200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:11828600-11829200	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:11828600-11829200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:11828600-11829200	Enhancers	HSMM	muscle
34	chr2:11828600-11829200	Flanking Active TSS	Osteobl	bone
35	chr2:11828600-11829400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:11828600-11829400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:11828600-11829400	Enhancers	Fetal Heart	heart
38	chr2:11828800-11829200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:11828800-11829200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:11828800-11829200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:11828800-11829200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:11828800-11829200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:11828800-11829200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:11828800-11829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:11828800-11829200	Flanking Active TSS	GM12878-XiMat	blood
46	chr2:11828800-11829200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr2:11828800-11829200	Flanking Active TSS	NHEK	skin
48	chr2:11828800-11829400	Enhancers	Ovary	ovary
49	chr2:11828800-11829400	Flanking Active TSS	Hela-S3	cervix
50	chr2:11828800-11829600	Enhancers	Pancreatic Islets	Pancreatic Islet

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