Variant report

Variant	rs13030462
Chromosome Location	chr2:55131780-55131781
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55127373..55130135-chr2:55130954..55133199,2	K562	blood:
2	chr2:55130649..55133566-chr2:55214516..55217293,2	K562	blood:
3	chr2:55010731..55013685-chr2:55129900..55132615,2	K562	blood:
4	chr2:55129551..55132200-chr2:55194668..55197954,3	MCF-7	breast:
5	chr2:55129798..55133385-chr2:55275223..55278848,4	MCF-7	breast:
6	chr2:55130704..55133111-chr2:55237252..55238774,2	MCF-7	breast:
7	chr2:55130491..55133378-chr2:55191719..55193881,2	MCF-7	breast:
8	chr2:55130679..55134331-chr2:55179003..55183555,6	MCF-7	breast:
9	chr2:55129480..55132018-chr2:55180693..55183896,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11677099	1.00[CHB][hapmap]
rs11696046	1.00[CHB][hapmap]
rs13021245	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13033042	0.85[CHB][hapmap]
rs2165007	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55127000-55132400	Weak transcription	Fetal Brain Male	brain
3	chr2:55127600-55133400	Weak transcription	Fetal Brain Female	brain
4	chr2:55127800-55133400	Weak transcription	Brain Substantia Nigra	brain
5	chr2:55127800-55133600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:55128000-55133400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:55128000-55133400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:55128000-55133800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:55129200-55133600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:55130200-55133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:55130400-55133800	Enhancers	Fetal Intestine Large	intestine
12	chr2:55130600-55131800	Flanking Active TSS	A549	lung
13	chr2:55130600-55131800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:55130600-55132200	Enhancers	HSMMtube	muscle
15	chr2:55130600-55132200	Enhancers	HUVEC	blood vessel
16	chr2:55130600-55133200	Enhancers	NHLF	lung
17	chr2:55130800-55131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:55130800-55131800	Flanking Active TSS	Hela-S3	cervix
19	chr2:55130800-55132000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:55130800-55132000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:55130800-55132000	Enhancers	K562	blood
22	chr2:55130800-55132400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:55130800-55132400	Enhancers	Adipose Nuclei	Adipose
24	chr2:55130800-55132400	Flanking Active TSS	NHEK	skin
25	chr2:55130800-55133600	Enhancers	Fetal Intestine Small	intestine
26	chr2:55131000-55131800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:55131000-55131800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:55131000-55132000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr2:55131000-55132000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr2:55131000-55132200	Enhancers	Stomach Mucosa	stomach
31	chr2:55131000-55133000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:55131000-55134200	Enhancers	Fetal Muscle Leg	muscle
33	chr2:55131200-55131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:55131200-55131800	Enhancers	HSMM	muscle
35	chr2:55131200-55132000	Flanking Active TSS	Liver	Liver
36	chr2:55131200-55132200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:55131200-55132200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:55131200-55132200	Enhancers	NH-A	brain
39	chr2:55131200-55132400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:55131400-55131800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:55131400-55131800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55131400-55131800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:55131400-55131800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:55131400-55131800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:55131400-55132000	Enhancers	Fetal Thymus	thymus
46	chr2:55131400-55132000	Enhancers	Pancreas	Pancrea
47	chr2:55131400-55132000	Enhancers	Psoas Muscle	Psoas
48	chr2:55131400-55132000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr2:55131400-55132000	Flanking Active TSS	Osteobl	bone
50	chr2:55131400-55132400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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