Variant report

Variant	nsv521249
Chromosome Location	chr22:33737243-33740860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:164 , 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	rs5998887	chr22:33737243-33737244	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567618412	chr22:33737248-33737249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536286384	chr22:33737260-33737261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144282269	chr22:33737302-33737303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148773190	chr22:33737309-33737310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144776850	chr22:33737342-33737343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16992180	chr22:33737376-33737377	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140155014	chr22:33737389-33737390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577766593	chr22:33737400-33737401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540297384	chr22:33737422-33737423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560022802	chr22:33737443-33737444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569919837	chr22:33737490-33737491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528091296	chr22:33737508-33737509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145637375	chr22:33737532-33737533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79331772	chr22:33737554-33737555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67699521	chr22:33737589-33737590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398081746	chr22:33737591-33737592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185672335	chr22:33737623-33737624	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150943542	chr22:33737685-33737686	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117307140	chr22:33737689-33737690	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541833738	chr22:33737717-33737718	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190039999	chr22:33737746-33737747	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527893331	chr22:33737749-33737750	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547855826	chr22:33737761-33737762	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567685092	chr22:33737786-33737787	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374032089	chr22:33737810-33737811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541084278	chr22:33737837-33737838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556638426	chr22:33737842-33737843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180785489	chr22:33737857-33737858	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140694450	chr22:33737924-33737925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186543481	chr22:33737945-33737946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191106276	chr22:33737946-33737947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78593091	chr22:33737961-33737962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149694914	chr22:33737969-33737970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60122905	chr22:33737992-33737993	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs36086510	chr22:33738010-33738011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577857795	chr22:33738020-33738021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113252257	chr22:33738032-33738033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8141790	chr22:33738037-33738038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115555141	chr22:33738042-33738043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111808157	chr22:33738046-33738047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145413488	chr22:33738058-33738059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565475296	chr22:33738067-33738068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146481266	chr22:33738076-33738077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141145123	chr22:33738080-33738081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561426658	chr22:33738124-33738125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542161915	chr22:33738135-33738136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561708293	chr22:33738142-33738143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527670746	chr22:33738168-33738169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183755889	chr22:33738175-33738176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
4	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:33723200-33739600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
7	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:33731200-33738800	Strong transcription	Fetal Stomach	stomach
10	chr22:33731200-33746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:33732200-33746600	Weak transcription	Fetal Intestine Large	intestine
14	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
15	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
16	chr22:33732800-33750400	Weak transcription	Liver	Liver
17	chr22:33733600-33737800	Weak transcription	Adipose Nuclei	Adipose
18	chr22:33733600-33741400	Weak transcription	Fetal Heart	heart
19	chr22:33733600-33744600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:33733600-33745000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:33733800-33737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:33733800-33738400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:33733800-33739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:33733800-33745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33733800-33746800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:33733800-33751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:33733800-33754000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:33734000-33741000	Weak transcription	Fetal Intestine Small	intestine
30	chr22:33734000-33754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
32	chr22:33734200-33744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:33734200-33745000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr22:33734200-33745000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:33734200-33745200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:33734400-33739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:33734400-33757400	Weak transcription	Gastric	stomach
38	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr22:33734800-33737600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:33734800-33750600	Weak transcription	Spleen	Spleen
42	chr22:33735200-33738000	Enhancers	HepG2	liver
43	chr22:33735600-33746600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr22:33735600-33746600	Weak transcription	Left Ventricle	heart
45	chr22:33735600-33754400	Weak transcription	Ovary	ovary
46	chr22:33737600-33737800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr22:33737800-33738000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:33738800-33746400	Weak transcription	Fetal Stomach	stomach

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