Variant report

Variant	nsv979672
Chromosome Location	chr22:33105500-33109433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32211896-32215168..22:33105668-33108370	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000236132	chromatin interactions
ENSG00000100150	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558162202	chr22:33105507-33105508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370090685	chr22:33105511-33105512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77187389	chr22:33105540-33105541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578258778	chr22:33105588-33105589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561575641	chr22:33105591-33105592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200497488	chr22:33105683-33105684	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566417943	chr22:33105686-33105687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140544942	chr22:33105691-33105692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs5845018	chr22:33105692-33105693	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190516367	chr22:33105809-33105810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs5754227	chr22:33105817-33105818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548628429	chr22:33105857-33105858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543168922	chr22:33105893-33105894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182747331	chr22:33105958-33105959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373885259	chr22:33105976-33105977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs5754228	chr22:33105987-33105988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs147396581	chr22:33106031-33106032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200544829	chr22:33106047-33106048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35298184	chr22:33106048-33106049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201328705	chr22:33106059-33106060	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199962064	chr22:33106060-33106061	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558883904	chr22:33106061-33106062	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569152203	chr22:33106076-33106077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs9619299	chr22:33106082-33106083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71320948	chr22:33106084-33106085	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs199920106	chr22:33106085-33106086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs59671458	chr22:33106086-33106087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201068329	chr22:33106095-33106096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs71320949	chr22:33106097-33106098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs57006066	chr22:33106098-33106099	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9621541	chr22:33106099-33106100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12106555	chr22:33106103-33106104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12106556	chr22:33106105-33106106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55824039	chr22:33106118-33106119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs531181718	chr22:33106124-33106125	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544849417	chr22:33106133-33106134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564725571	chr22:33106207-33106208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62234578	chr22:33106232-33106233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11703778	chr22:33106269-33106270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187077234	chr22:33106274-33106275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113887120	chr22:33106339-33106340	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146584680	chr22:33106344-33106345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529655783	chr22:33106419-33106420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs540313688	chr22:33106490-33106491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549785990	chr22:33106509-33106510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191573386	chr22:33106510-33106511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11089590	chr22:33106533-33106534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552813616	chr22:33106538-33106539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs143348208	chr22:33106584-33106585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs374305805	chr22:33106602-33106603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33103000-33113600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33103400-33106200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33103600-33105600	Enhancers	HMEC	breast
4	chr22:33103600-33106000	Enhancers	NHDF-Ad	bronchial
5	chr22:33103600-33106000	Enhancers	Osteobl	bone
6	chr22:33103800-33105600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:33103800-33105600	Enhancers	Adipose Nuclei	Adipose
8	chr22:33104000-33106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:33104200-33107200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:33104400-33105800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33104600-33105800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:33105000-33106200	Weak transcription	Right Atrium	heart
14	chr22:33105000-33108400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:33105000-33108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:33105000-33108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr22:33105200-33107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:33105200-33107800	Weak transcription	Placenta	Placenta
19	chr22:33105200-33107800	Weak transcription	Spleen	Spleen
20	chr22:33105200-33108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:33105200-33108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:33105200-33108400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:33105200-33110000	Weak transcription	Fetal Lung	lung
24	chr22:33105200-33110800	Weak transcription	HSMMtube	muscle
25	chr22:33105200-33113400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:33105200-33113800	Weak transcription	NH-A	brain
27	chr22:33105400-33108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:33105400-33108600	Weak transcription	Fetal Muscle Leg	muscle
29	chr22:33105400-33110000	Weak transcription	Fetal Stomach	stomach
30	chr22:33105600-33108400	Weak transcription	Adipose Nuclei	Adipose
31	chr22:33105800-33108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:33105800-33108800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr22:33106000-33108000	Weak transcription	NHDF-Ad	bronchial
34	chr22:33106000-33108000	Weak transcription	Osteobl	bone
35	chr22:33106200-33106400	Enhancers	Right Atrium	heart
36	chr22:33106200-33108200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:33106400-33109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr22:33107200-33107800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:33107600-33109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr22:33107600-33110400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr22:33107800-33108200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr22:33107800-33109000	Enhancers	Spleen	Spleen
43	chr22:33107800-33110600	Enhancers	Placenta	Placenta
44	chr22:33107800-33111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:33108000-33108800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:33108000-33110400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:33108000-33110400	Enhancers	NHDF-Ad	bronchial
48	chr22:33108000-33111400	Enhancers	Osteobl	bone
49	chr22:33108200-33109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:33108200-33109400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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