Variant report

Variant	rs550610266
Chromosome Location	chr2:114042479-114042480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv961872	chr2:114041837-114061641	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114036600-114043800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114037400-114043600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114037600-114043800	Enhancers	HMEC	breast
4	chr2:114038200-114043800	Enhancers	Fetal Intestine Large	intestine
5	chr2:114038400-114043600	Enhancers	Fetal Intestine Small	intestine
6	chr2:114038600-114043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114038600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:114039000-114043800	Enhancers	HSMM	muscle
9	chr2:114039400-114043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:114039400-114043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114039400-114043200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:114039600-114042600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:114039600-114043400	Enhancers	Osteobl	bone
14	chr2:114039600-114043600	Enhancers	HSMMtube	muscle
15	chr2:114039600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:114039800-114043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:114040000-114042600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:114040200-114042600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:114040400-114042800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:114040600-114043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:114040600-114043600	Enhancers	Colon Smooth Muscle	Colon
22	chr2:114040600-114043600	Enhancers	NHDF-Ad	bronchial
23	chr2:114040600-114047000	Enhancers	Liver	Liver
24	chr2:114040600-114047800	Weak transcription	Gastric	stomach
25	chr2:114040800-114043400	Enhancers	NHLF	lung
26	chr2:114041000-114042600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:114041000-114043600	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:114041200-114042800	Enhancers	Fetal Stomach	stomach
29	chr2:114041200-114043600	Enhancers	NHEK	skin
30	chr2:114041400-114042600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:114041400-114042800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:114041400-114043800	Enhancers	A549	lung
33	chr2:114041600-114042600	Enhancers	Spleen	Spleen
34	chr2:114041600-114042600	Enhancers	HepG2	liver
35	chr2:114041600-114043400	Enhancers	Lung	lung
36	chr2:114041600-114043600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:114041800-114042600	Enhancers	Fetal Kidney	kidney
38	chr2:114041800-114042600	Enhancers	Ovary	ovary
39	chr2:114041800-114042800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr2:114042200-114043200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:114042200-114043400	Weak transcription	Pancreas	Pancrea
42	chr2:114042200-114044200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:114042200-114045400	Weak transcription	Stomach Mucosa	stomach
44	chr2:114042200-114046000	Weak transcription	Brain Anterior Caudate	brain
45	chr2:114042200-114046200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:114042400-114042600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:114042400-114043600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:114042400-114043600	Enhancers	NH-A	brain
49	chr2:114042400-114044600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:114042400-114045000	Weak transcription	Brain Inferior Temporal Lobe	brain

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