Variant report

Variant	nsv523572
Chromosome Location	chr2:21489083-21493269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs6714773	chr2:21489083-21489084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553900385	chr2:21489100-21489101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559059620	chr2:21489109-21489110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575743604	chr2:21489112-21489113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544829476	chr2:21489164-21489165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201329382	chr2:21489181-21489182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554945371	chr2:21489190-21489191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576638476	chr2:21489207-21489208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575235764	chr2:21489233-21489234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180696857	chr2:21489272-21489273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185082267	chr2:21489303-21489304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72898461	chr2:21489308-21489309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545980304	chr2:21489312-21489313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190005602	chr2:21489326-21489327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371545588	chr2:21489364-21489365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562480798	chr2:21489431-21489432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183074863	chr2:21489457-21489458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373866200	chr2:21489462-21489463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548392092	chr2:21489463-21489464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561619583	chr2:21489473-21489474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141574660	chr2:21489478-21489479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546945822	chr2:21489480-21489481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557687403	chr2:21489501-21489502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112613332	chr2:21489587-21489588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150892477	chr2:21489632-21489633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115015551	chr2:21489675-21489676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139416610	chr2:21489685-21489686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569763252	chr2:21489691-21489692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113897298	chr2:21489749-21489750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13419611	chr2:21489755-21489756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555162503	chr2:21489801-21489802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369881262	chr2:21489829-21489830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575147823	chr2:21489855-21489856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111684221	chr2:21489857-21489858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554553097	chr2:21489885-21489886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146067046	chr2:21489914-21489915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575878619	chr2:21489925-21489926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562818586	chr2:21489938-21489939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576503370	chr2:21489950-21489951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186716289	chr2:21489996-21489997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191502561	chr2:21490004-21490005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561554985	chr2:21490026-21490027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4536677	chr2:21490035-21490036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4416249	chr2:21490042-21490043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547184410	chr2:21490055-21490056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540039399	chr2:21490057-21490058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527533519	chr2:21490068-21490069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57096036	chr2:21490085-21490086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564077925	chr2:21490140-21490141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75718613	chr2:21490143-21490144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21479000-21490400	Weak transcription	Spleen	Spleen
2	chr2:21479400-21494800	Enhancers	Brain Substantia Nigra	brain
3	chr2:21479600-21489200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:21481600-21490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:21483400-21490600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:21483600-21490200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:21485000-21490400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:21487000-21489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:21488000-21489800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:21488000-21489800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:21488000-21489800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:21488800-21489800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:21488800-21489800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:21488800-21490400	Weak transcription	K562	blood
15	chr2:21488800-21490800	Weak transcription	Aorta	Aorta
16	chr2:21489000-21492600	Enhancers	Ovary	ovary
17	chr2:21489200-21489600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:21489600-21491000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:21489600-21495400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:21489800-21492000	Enhancers	Pancreas	Pancrea
21	chr2:21489800-21492200	Enhancers	Brain Hippocampus Middle	brain
22	chr2:21489800-21492400	Enhancers	Brain Angular Gyrus	brain
23	chr2:21489800-21494200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:21489800-21494600	Enhancers	Brain Anterior Caudate	brain
25	chr2:21489800-21494600	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:21489800-21495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:21490000-21490200	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:21490200-21490600	Enhancers	Fetal Lung	lung
29	chr2:21490200-21490800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:21490200-21490800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:21490200-21491200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:21490200-21494400	Enhancers	Fetal Kidney	kidney
33	chr2:21490400-21490800	Enhancers	K562	blood
34	chr2:21490400-21491600	Enhancers	Right Atrium	heart
35	chr2:21490400-21492200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:21490400-21492200	Enhancers	Spleen	Spleen
37	chr2:21490400-21493800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:21490600-21490800	Enhancers	Left Ventricle	heart
39	chr2:21490600-21491400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:21490600-21492400	Weak transcription	Fetal Lung	lung
41	chr2:21490600-21494000	Enhancers	Fetal Intestine Large	intestine
42	chr2:21490600-21494200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:21490800-21491600	Enhancers	Aorta	Aorta
44	chr2:21490800-21491800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:21490800-21491800	Weak transcription	Left Ventricle	heart
46	chr2:21490800-21492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:21490800-21493200	Weak transcription	K562	blood
48	chr2:21491000-21491200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:21491200-21491400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:21491200-21492000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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