Variant report

Variant	rs59333215
Chromosome Location	chr2:134262869-134262870
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:134193206..134195489-chr2:134262827..134264976,2	MCF-7	breast:
2	chr2:134250274..134251222-chr2:134262111..134262982,5	MCF-7	breast:
3	chr2:134250271..134251246-chr2:134262119..134262954,2	MCF-7	breast:
4	chr2:134019056..134021492-chr2:134262374..134264487,2	MCF-7	breast:
5	chr2:134089345..134089856-chr2:134262223..134263005,2	MCF-7	breast:
6	chr2:134250215..134251119-chr2:134262111..134263140,7	MCF-7	breast:
7	chr2:134262296..134264688-chr2:134267619..134270356,2	MCF-7	breast:
8	chr2:134253868..134259578-chr2:134259579..134266138,12	MCF-7	breast:
9	chr2:134089010..134089877-chr2:134262426..134263057,3	MCF-7	breast:
10	chr2:134250267..134251079-chr2:134262506..134263278,3	MCF-7	breast:
11	chr2:133339903..133340611-chr2:134262125..134263083,2	MCF-7	breast:
12	chr2:133428056..133430073-chr2:134262695..134265949,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150551	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10928453	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1432284	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56949683	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59817257	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736284	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6755702	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2830192	chr2:134259612-134311713	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134259000-134265600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134260200-134263800	Enhancers	Brain Hippocampus Middle	brain
3	chr2:134260400-134265200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:134260400-134265400	Enhancers	Fetal Heart	heart
5	chr2:134260600-134264000	Enhancers	Brain Substantia Nigra	brain
6	chr2:134261400-134263200	Enhancers	Fetal Brain Female	brain
7	chr2:134261400-134263400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:134261400-134263400	Enhancers	Left Ventricle	heart
9	chr2:134261400-134263600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:134261400-134263800	Enhancers	HMEC	breast
11	chr2:134261400-134264000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:134261400-134265000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:134261400-134265800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:134261400-134265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:134261600-134263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:134261800-134263200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:134261800-134263400	Enhancers	Brain Anterior Caudate	brain
18	chr2:134261800-134263800	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:134262000-134263400	Enhancers	Fetal Lung	lung
20	chr2:134262000-134263400	Enhancers	NH-A	brain
21	chr2:134262000-134263800	Enhancers	Brain Angular Gyrus	brain
22	chr2:134262000-134263800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:134262000-134265000	Enhancers	NHEK	skin
24	chr2:134262000-134265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:134262000-134267600	Enhancers	Brain Germinal Matrix	brain
26	chr2:134262200-134263000	Enhancers	Fetal Brain Male	brain
27	chr2:134262200-134263200	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:134262200-134263200	Enhancers	Lung	lung
29	chr2:134262400-134263200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:134262400-134263200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:134262400-134263200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:134262400-134263400	Enhancers	Gastric	stomach
33	chr2:134262400-134263400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:134262400-134263600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:134262600-134265000	Weak transcription	Fetal Intestine Small	intestine
36	chr2:134262600-134267000	Weak transcription	Placenta	Placenta
37	chr2:134262600-134267400	Weak transcription	Esophagus	oesophagus
38	chr2:134262800-134264000	Weak transcription	Right Atrium	heart
39	chr2:134262800-134264000	Weak transcription	Right Ventricle	heart

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