Variant report

Variant	nsv1011732
Chromosome Location	chr2:21822998-21857207
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	chr2:21850970..21852650-chr2:21854430..21855981,2	MCF-7	breast:
2	chr2:21850970..21852650-chr2:21854430..21855981,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APOB-5	chr2:21853698-21853815	NONHSAT069498
2	lnc-APOB-4	chr2:21853420-21853815	ENSG00000235537
3	lnc-APOB-5	chr2:21852296-21852867	NONHSAT069498

Extended variants
information (count: 742 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1991126	chr2:21822998-21822999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544514416	chr2:21829444-21829445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550959192	chr2:21829486-21829487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186009825	chr2:21829505-21829506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189295561	chr2:21829537-21829538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561078686	chr2:21829563-21829564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530128194	chr2:21829575-21829576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547056955	chr2:21829588-21829589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566881285	chr2:21829688-21829689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369819123	chr2:21829694-21829695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182035804	chr2:21829802-21829803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143802499	chr2:21829805-21829806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568922296	chr2:21829807-21829808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538077184	chr2:21829819-21829820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114697088	chr2:21829919-21829920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574441532	chr2:21829987-21829988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185913780	chr2:21829997-21829998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116601242	chr2:21830021-21830022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553313550	chr2:21830119-21830120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576433175	chr2:21830161-21830162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540333446	chr2:21830185-21830186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374305159	chr2:21830191-21830192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1991127	chr2:21830196-21830197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368714660	chr2:21830230-21830231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76887322	chr2:21830281-21830282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544835776	chr2:21830294-21830295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531953795	chr2:21830318-21830319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138309135	chr2:21830338-21830339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543516805	chr2:21830340-21830341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190832622	chr2:21830366-21830367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1991128	chr2:21830377-21830378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs552373598	chr2:21830381-21830382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569361090	chr2:21830395-21830396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183149189	chr2:21830406-21830407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76713116	chr2:21830429-21830430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143792091	chr2:21830443-21830444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186264950	chr2:21830460-21830461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553675495	chr2:21830471-21830472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190379816	chr2:21830494-21830495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113066439	chr2:21830505-21830506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147273311	chr2:21830530-21830531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373610602	chr2:21830533-21830534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112846630	chr2:21830534-21830535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76123152	chr2:21830567-21830568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371202636	chr2:21830596-21830597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555150932	chr2:21830610-21830611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183000755	chr2:21830619-21830620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1476119	chr2:21830629-21830630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs565362904	chr2:21830651-21830652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55828438	chr2:21830720-21830721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21822400-21823000	Enhancers	Fetal Kidney	kidney
2	chr2:21829400-21831000	Enhancers	Brain Germinal Matrix	brain
3	chr2:21830600-21830800	Enhancers	Aorta	Aorta
4	chr2:21830600-21831400	Enhancers	Left Ventricle	heart
5	chr2:21832800-21833400	Enhancers	Liver	Liver
6	chr2:21840000-21841200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:21840200-21841400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:21840800-21841200	Enhancers	Ovary	ovary
9	chr2:21840800-21841400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:21841000-21841400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:21841200-21842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:21841200-21844600	Weak transcription	Ovary	ovary
13	chr2:21841400-21843000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:21842800-21844200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:21843000-21844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:21843200-21843800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:21843800-21855400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:21844600-21845200	Enhancers	Ovary	ovary
19	chr2:21845200-21846200	Weak transcription	Ovary	ovary
20	chr2:21846200-21846600	Enhancers	Ovary	ovary
21	chr2:21846600-21871200	Weak transcription	Aorta	Aorta
22	chr2:21850800-21851200	Enhancers	Fetal Brain Female	brain
23	chr2:21851200-21852000	Enhancers	NHLF	lung
24	chr2:21851200-21855600	Weak transcription	Fetal Brain Female	brain
25	chr2:21852600-21852800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:21852800-21856000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:21855400-21855800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:21855400-21856800	Enhancers	Brain Germinal Matrix	brain
29	chr2:21855600-21856800	Enhancers	Fetal Brain Female	brain
30	chr2:21855800-21856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:21856000-21856600	Enhancers	Fetal Brain Male	brain
32	chr2:21856000-21857200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:21856200-21856800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:21856400-21856800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:21856600-21856800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:21856800-21862200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:21857200-21865600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links