Variant report

Variant	rs1490999
Chromosome Location	chr2:180053223-180053224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6742744	0.95[ASN][1000 genomes]
rs6757681	0.95[ASN][1000 genomes]
rs873023	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180005800-180053600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:180006800-180054600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:180015000-180054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:180015000-180056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:180015000-180060600	Weak transcription	Lung	lung
8	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
9	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:180016000-180054200	Weak transcription	NHDF-Ad	bronchial
11	chr2:180016200-180054000	Weak transcription	Osteobl	bone
12	chr2:180030400-180055400	Weak transcription	Thymus	Thymus
13	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:180041000-180054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:180041200-180056000	Weak transcription	Fetal Thymus	thymus
18	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
19	chr2:180041200-180058800	Weak transcription	Ovary	ovary
20	chr2:180043200-180055200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:180043600-180058800	Weak transcription	Gastric	stomach
22	chr2:180044600-180054800	Weak transcription	Fetal Lung	lung
23	chr2:180045000-180054800	Weak transcription	Fetal Kidney	kidney
24	chr2:180046000-180054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:180046200-180053400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:180046200-180054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:180046200-180054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:180046400-180053600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:180046400-180053800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:180047000-180054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:180047800-180054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:180049600-180053800	Weak transcription	Small Intestine	intestine
35	chr2:180049800-180054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:180051400-180054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:180051800-180053600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:180052200-180054200	Weak transcription	Fetal Intestine Large	intestine
41	chr2:180052200-180054200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:180052200-180056400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:180052400-180056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:180052600-180053800	Genic enhancers	HepG2	liver
45	chr2:180052600-180055800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr2:180052600-180056400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:180052800-180053600	Strong transcription	Fetal Heart	heart
48	chr2:180052800-180055600	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr2:180053000-180053400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:180053000-180053400	ZNF genes & repeats	Dnd41	blood

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