Variant report

Variant	nsv829147
Chromosome Location	chr22:28639636-28640341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181184825	chr22:28639641-28639642	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs558076284	chr22:28639643-28639644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs186892765	chr22:28639661-28639662	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571517830	chr22:28639685-28639686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs554926497	chr22:28639722-28639723	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs188883030	chr22:28639746-28639747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537252785	chr22:28639776-28639777	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs142435367	chr22:28639786-28639787	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs16986193	chr22:28639829-28639830	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182009627	chr22:28639877-28639878	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs186246767	chr22:28639883-28639884	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572134279	chr22:28639920-28639921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs76447725	chr22:28639940-28639941	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs116771910	chr22:28639958-28639959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs531842502	chr22:28640046-28640047	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs79601539	chr22:28640093-28640094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs553996941	chr22:28640202-28640203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs537475703	chr22:28640209-28640210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs35425482	chr22:28640243-28640244	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs190707462	chr22:28640309-28640310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs151301038	chr22:28640331-28640332	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:28628600-28640800	Weak transcription	NHLF	lung
5	chr22:28631400-28640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:28632200-28640200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:28632400-28640800	Weak transcription	Aorta	Aorta
8	chr22:28633600-28640800	Weak transcription	HSMMtube	muscle
9	chr22:28634200-28640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:28635600-28650800	Weak transcription	Dnd41	blood
11	chr22:28636400-28640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:28638400-28642000	Enhancers	K562	blood
13	chr22:28639000-28640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:28639200-28639800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:28639200-28639800	Enhancers	Left Ventricle	heart
16	chr22:28639400-28640200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr22:28639400-28641200	Enhancers	Fetal Brain Male	brain
18	chr22:28639400-28642200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:28639400-28643200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:28639400-28643600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:28639400-28643800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:28639400-28644200	Enhancers	Osteobl	bone
24	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
25	chr22:28639600-28639800	Enhancers	Adipose Nuclei	Adipose
26	chr22:28639600-28639800	Enhancers	Brain Hippocampus Middle	brain
27	chr22:28639600-28639800	Enhancers	Gastric	stomach
28	chr22:28639600-28639800	Enhancers	Right Ventricle	heart
29	chr22:28639600-28639800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr22:28639600-28639800	Enhancers	Stomach Mucosa	stomach
31	chr22:28639600-28639800	Enhancers	A549	lung
32	chr22:28639600-28640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:28639600-28640000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:28639600-28640000	Enhancers	NHEK	skin
35	chr22:28639600-28640600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:28639600-28640800	Enhancers	Ovary	ovary
37	chr22:28639600-28641000	Enhancers	Fetal Kidney	kidney
38	chr22:28639600-28641000	Enhancers	Right Atrium	heart
39	chr22:28639600-28641200	Enhancers	Psoas Muscle	Psoas
40	chr22:28639600-28641800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:28639600-28641800	Enhancers	NHDF-Ad	bronchial
42	chr22:28639600-28642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr22:28639600-28642800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:28639600-28643200	Enhancers	HSMM	muscle
45	chr22:28639600-28644000	Enhancers	NH-A	brain
46	chr22:28639800-28640400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr22:28639800-28640800	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:28639800-28640800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:28639800-28640800	Weak transcription	Stomach Mucosa	stomach
50	chr22:28639800-28640800	Weak transcription	A549	lung

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