Variant report

Variant	nsv544688
Chromosome Location	chr22:33875165-33911764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
2	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
3	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 1597 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1597 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535215486	chr22:33875186-33875187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555021651	chr22:33875226-33875227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574927895	chr22:33875234-33875235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543771287	chr22:33875235-33875236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564646424	chr22:33875265-33875266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578159877	chr22:33875266-33875267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190479296	chr22:33875299-33875300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16992419	chr22:33875365-33875366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs193208248	chr22:33875396-33875397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117140814	chr22:33875425-33875426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562957273	chr22:33875449-33875450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531757221	chr22:33875473-33875474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551725781	chr22:33875495-33875496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371084807	chr22:33875501-33875502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539678517	chr22:33875576-33875577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184372331	chr22:33875638-33875639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543945028	chr22:33875663-33875664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61200784	chr22:33875665-33875666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370226769	chr22:33875725-33875726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35004846	chr22:33875731-33875732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546488980	chr22:33875732-33875733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188903059	chr22:33875738-33875739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5749618	chr22:33875762-33875763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555057429	chr22:33875802-33875803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181362184	chr22:33875841-33875842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537444969	chr22:33875972-33875973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149062618	chr22:33876010-33876011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185391730	chr22:33876046-33876047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540966102	chr22:33876047-33876048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550417913	chr22:33876084-33876085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372223048	chr22:33876090-33876091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376499060	chr22:33876091-33876092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368597728	chr22:33876120-33876121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143062659	chr22:33876155-33876156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562996061	chr22:33876160-33876161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17803678	chr22:33876161-33876162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545082980	chr22:33876199-33876200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148252500	chr22:33876210-33876211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527683550	chr22:33876213-33876214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546906083	chr22:33876232-33876233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371457072	chr22:33876233-33876234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374509120	chr22:33876246-33876247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141273765	chr22:33876272-33876273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189601990	chr22:33876312-33876313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374899525	chr22:33876389-33876390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs5845086	chr22:33876406-33876407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397809587	chr22:33876408-33876409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568617761	chr22:33876421-33876422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369036209	chr22:33876459-33876460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537982880	chr22:33876460-33876461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
3	chr22:33864000-33888200	Weak transcription	Ovary	ovary
4	chr22:33869000-33876400	Weak transcription	HSMMtube	muscle
5	chr22:33871800-33875200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:33873000-33875200	Enhancers	Psoas Muscle	Psoas
7	chr22:33873000-33878200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:33873000-33883400	Weak transcription	Gastric	stomach
9	chr22:33873000-33888000	Weak transcription	Pancreas	Pancrea
10	chr22:33873000-33888200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33873000-33888200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:33874000-33878400	Weak transcription	Right Atrium	heart
13	chr22:33874000-33882200	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:33874000-33882400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:33874000-33883200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:33874200-33888200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33874400-33888200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:33874600-33876200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:33874600-33879400	Weak transcription	Fetal Heart	heart
20	chr22:33874800-33876000	Weak transcription	HepG2	liver
21	chr22:33874800-33876200	Weak transcription	Fetal Intestine Small	intestine
22	chr22:33875000-33875200	Enhancers	Left Ventricle	heart
23	chr22:33875000-33875200	Enhancers	Right Ventricle	heart
24	chr22:33875000-33883000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:33875200-33878400	Weak transcription	Left Ventricle	heart
26	chr22:33875200-33878800	Weak transcription	Right Ventricle	heart
27	chr22:33875200-33888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:33876000-33876200	Enhancers	HepG2	liver
29	chr22:33876200-33876600	Enhancers	Fetal Intestine Large	intestine
30	chr22:33876200-33876600	Enhancers	Fetal Intestine Small	intestine
31	chr22:33876200-33876800	Enhancers	Fetal Lung	lung
32	chr22:33877400-33878200	Enhancers	Liver	Liver
33	chr22:33878400-33879600	Enhancers	Right Atrium	heart
34	chr22:33878400-33880000	Enhancers	Left Ventricle	heart
35	chr22:33878400-33884400	Weak transcription	Fetal Brain Female	brain
36	chr22:33878800-33880000	Enhancers	Right Ventricle	heart
37	chr22:33879400-33880200	Enhancers	Fetal Heart	heart
38	chr22:33879400-33885000	Weak transcription	Aorta	Aorta
39	chr22:33879600-33883400	Weak transcription	Right Atrium	heart
40	chr22:33879800-33880000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:33880000-33880600	Weak transcription	Left Ventricle	heart
42	chr22:33880000-33883400	Weak transcription	Right Ventricle	heart
43	chr22:33880200-33887800	Weak transcription	Fetal Heart	heart
44	chr22:33880600-33880800	Enhancers	Left Ventricle	heart
45	chr22:33880800-33882000	Weak transcription	Left Ventricle	heart
46	chr22:33881600-33883600	Enhancers	Brain Anterior Caudate	brain
47	chr22:33882000-33882400	Enhancers	Left Ventricle	heart
48	chr22:33882000-33882400	Enhancers	GM12878-XiMat	blood
49	chr22:33882000-33882600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:33882000-33884400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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