Variant report

Variant	nsv1065776
Chromosome Location	chr22:33860774-33934464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
2	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:
3	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:
4	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
5	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
6	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
7	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
8	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3304 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3304 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549713016	chr22:33860779-33860780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28535690	chr22:33860824-33860825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4821147	chr22:33860825-33860826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117477370	chr22:33860828-33860829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202201648	chr22:33860833-33860834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12160235	chr22:33860840-33860841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552350041	chr22:33860846-33860847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565760828	chr22:33860848-33860849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59812925	chr22:33860870-33860871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386820830	chr22:33860876-33860877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200292395	chr22:33860877-33860878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370322122	chr22:33860878-33860879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71187268	chr22:33860879-33860880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28482051	chr22:33860881-33860882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28462387	chr22:33860888-33860889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374062074	chr22:33860892-33860893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398036951	chr22:33860893-33860894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13054751	chr22:33860894-33860895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12160205	chr22:33860895-33860896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568678589	chr22:33860900-33860901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537700608	chr22:33860901-33860902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557280395	chr22:33860906-33860907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577407843	chr22:33860909-33860910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4820105	chr22:33860913-33860914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12160290	chr22:33860917-33860918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12160462	chr22:33860924-33860925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12160240	chr22:33860930-33860931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28546318	chr22:33860932-33860933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12160494	chr22:33860936-33860937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572967646	chr22:33860998-33860999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77182445	chr22:33861007-33861008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542019460	chr22:33861009-33861010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78425400	chr22:33861037-33861038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529955528	chr22:33861045-33861046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543743641	chr22:33861048-33861049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189943296	chr22:33861057-33861058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56380223	chr22:33861060-33861061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147350375	chr22:33861075-33861076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565793673	chr22:33861108-33861109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528163319	chr22:33861123-33861124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548209250	chr22:33861134-33861135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568007584	chr22:33861189-33861190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549317407	chr22:33861198-33861199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536632792	chr22:33861199-33861200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557680920	chr22:33861228-33861229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369474741	chr22:33861243-33861244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4821148	chr22:33861275-33861276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs567855835	chr22:33861305-33861306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536484924	chr22:33861330-33861331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73882233	chr22:33861340-33861341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33848600-33860800	Weak transcription	Fetal Lung	lung
2	chr22:33852200-33860800	Weak transcription	Pancreas	Pancrea
3	chr22:33856000-33863200	Weak transcription	Ovary	ovary
4	chr22:33856800-33860800	Weak transcription	Right Ventricle	heart
5	chr22:33857000-33860800	Weak transcription	Left Ventricle	heart
6	chr22:33857000-33860800	Weak transcription	Psoas Muscle	Psoas
7	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:33858400-33861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:33860600-33862200	Enhancers	Fetal Heart	heart
11	chr22:33860800-33861000	Enhancers	Fetal Lung	lung
12	chr22:33860800-33861000	Enhancers	Pancreas	Pancrea
13	chr22:33860800-33861000	Enhancers	Psoas Muscle	Psoas
14	chr22:33860800-33862200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr22:33860800-33862200	Enhancers	Right Ventricle	heart
16	chr22:33860800-33862400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:33860800-33864200	Enhancers	Right Atrium	heart
18	chr22:33860800-33864400	Enhancers	Left Ventricle	heart
19	chr22:33861000-33861600	Weak transcription	Pancreas	Pancrea
20	chr22:33861000-33862400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr22:33861000-33862600	Enhancers	Adipose Nuclei	Adipose
22	chr22:33861000-33863000	Weak transcription	Fetal Lung	lung
23	chr22:33861000-33863800	Weak transcription	Psoas Muscle	Psoas
24	chr22:33861200-33861400	Enhancers	Rectal Smooth Muscle	rectum
25	chr22:33861200-33861800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr22:33861200-33862200	Enhancers	Brain Cingulate Gyrus	brain
27	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:33861400-33861800	Enhancers	Aorta	Aorta
29	chr22:33861400-33861800	Enhancers	Brain Anterior Caudate	brain
30	chr22:33861400-33861800	Enhancers	Brain Hippocampus Middle	brain
31	chr22:33861400-33861800	Enhancers	Stomach Smooth Muscle	stomach
32	chr22:33861400-33862000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:33861400-33862000	Enhancers	Brain Substantia Nigra	brain
34	chr22:33861400-33862200	Enhancers	Brain Angular Gyrus	brain
35	chr22:33861400-33868800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:33861600-33861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:33861600-33861800	Enhancers	Lung	lung
38	chr22:33861600-33861800	Enhancers	Pancreas	Pancrea
39	chr22:33861600-33861800	Enhancers	GM12878-XiMat	blood
40	chr22:33861800-33862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:33861800-33862800	Weak transcription	Lung	lung
42	chr22:33861800-33866200	Weak transcription	GM12878-XiMat	blood
43	chr22:33861800-33868800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
45	chr22:33862000-33862200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:33862200-33863200	Weak transcription	Right Ventricle	heart
47	chr22:33862200-33866400	Weak transcription	Fetal Heart	heart
48	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:33862400-33863600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:33862400-33867600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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