Variant report

Variant	rs13403567
Chromosome Location	chr2:190477717-190477718
allele	A/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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190477204..190481164-chr2:190482832..190486445,4	K562	blood:
2	chr2:190442674..190450266-chr2:190472603..190483585,23	K562	blood:
3	chr2:190476983..190479563-chr2:190480733..190482678,3	K562	blood:
4	chr2:190441425..190452696-chr2:190467093..190481176,34	K562	blood:
5	chr2:188410825..188412949-chr2:190475105..190477931,2	K562	blood:
6	chr2:190304755..190306689-chr2:190476838..190478787,2	K562	blood:
7	chr2:190477612..190479605-chr2:190647358..190649650,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064933	Chromatin interaction
ENSG00000138449	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000115368	Chromatin interaction

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

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

rs_ID	r²[population]
rs13384930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410922	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596205	1.00[YRI][hapmap]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190472800-190477800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:190473800-190478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:190474600-190477800	Enhancers	Fetal Heart	heart
4	chr2:190475800-190477800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:190476000-190477800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:190476800-190477800	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:190476800-190477800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:190476800-190477800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:190476800-190477800	Enhancers	NHLF	lung
10	chr2:190476800-190478600	Flanking Active TSS	Hela-S3	cervix
11	chr2:190476800-190479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:190476800-190480600	Enhancers	Placenta	Placenta
13	chr2:190477200-190477800	Enhancers	Liver	Liver
14	chr2:190477200-190477800	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:190477200-190477800	Enhancers	Fetal Kidney	kidney
16	chr2:190477200-190477800	Enhancers	Osteobl	bone
17	chr2:190477200-190478400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:190477200-190478600	Enhancers	Fetal Intestine Small	intestine
19	chr2:190477200-190478800	Enhancers	Stomach Mucosa	stomach
20	chr2:190477200-190478800	Flanking Active TSS	A549	lung
21	chr2:190477400-190477800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:190477400-190477800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:190477400-190477800	Enhancers	NH-A	brain
24	chr2:190477400-190477800	Enhancers	NHEK	skin
25	chr2:190477400-190478200	Flanking Active TSS	Fetal Lung	lung
26	chr2:190477400-190478200	Flanking Active TSS	HepG2	liver
27	chr2:190477400-190478400	Active TSS	Right Atrium	heart
28	chr2:190477400-190478600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:190477400-190478800	Enhancers	NHDF-Ad	bronchial
30	chr2:190477400-190479000	Enhancers	HSMM	muscle
31	chr2:190477600-190477800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:190477600-190477800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:190477600-190477800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:190477600-190477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:190477600-190477800	Weak transcription	Aorta	Aorta
36	chr2:190477600-190477800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:190477600-190477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:190477600-190477800	Enhancers	Fetal Muscle Leg	muscle
39	chr2:190477600-190478000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:190477600-190478000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:190477600-190478000	Flanking Active TSS	K562	blood
42	chr2:190477600-190478400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:190477600-190478400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr2:190477600-190478400	Active TSS	Ovary	ovary
45	chr2:190477600-190478400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:190477600-190478600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:190477600-190478600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:190477600-190478600	Flanking Active TSS	HUVEC	blood vessel

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