Variant report

Variant	nsv4267
Chromosome Location	chr4:21364827-21381632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:21373360..21375651-chr4:21376032..21378469,2	MCF-7	breast:
2	chr4:21372485..21375089-chr4:21376184..21378296,2	K562	blood:
3	chr4:21372485..21375089-chr4:21376184..21378296,2	K562	blood:
4	chr4:21373360..21375651-chr4:21376032..21378469,2	MCF-7	breast:

Extended variants
information (count: 306 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533578002	chr4:21364842-21364843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558109638	chr4:21364858-21364859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576552881	chr4:21364870-21364871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377646020	chr4:21364922-21364923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192840423	chr4:21364943-21364944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75356805	chr4:21364978-21364979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574528465	chr4:21364996-21364997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116148538	chr4:21365022-21365023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560436757	chr4:21365054-21365055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565578102	chr4:21365060-21365061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115267247	chr4:21365080-21365081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540657384	chr4:21365083-21365084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565248373	chr4:21365115-21365116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140876098	chr4:21365127-21365128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551050056	chr4:21365190-21365191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150175137	chr4:21365192-21365193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530361779	chr4:21365209-21365210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529800231	chr4:21365229-21365230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56044755	chr4:21365247-21365248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138721199	chr4:21365270-21365271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534194949	chr4:21365324-21365325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185380380	chr4:21365357-21365358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569386754	chr4:21365363-21365364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562735626	chr4:21365366-21365367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537068247	chr4:21365540-21365541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537550364	chr4:21365554-21365555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556270180	chr4:21365576-21365577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190102223	chr4:21365603-21365604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535671693	chr4:21365620-21365621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553660848	chr4:21365623-21365624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572391286	chr4:21365659-21365660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546082872	chr4:21365710-21365711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565285421	chr4:21365711-21365712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531066626	chr4:21365766-21365767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544273423	chr4:21365767-21365768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35727536	chr4:21365779-21365780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530115677	chr4:21365801-21365802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181829909	chr4:21365804-21365805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560448255	chr4:21365807-21365808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527988278	chr4:21365820-21365821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552406588	chr4:21365859-21365860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570805335	chr4:21365862-21365863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11931958	chr4:21365907-21365908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549495905	chr4:21365924-21365925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568173565	chr4:21365940-21365941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184849415	chr4:21365942-21365943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71607070	chr4:21365988-21365989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532259228	chr4:21366016-21366017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552059828	chr4:21366025-21366026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539643500	chr4:21366121-21366122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21363000-21365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21363400-21367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:21364000-21367400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:21364000-21368400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:21364200-21367400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:21364200-21368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:21364800-21365000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:21364800-21366000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:21365000-21367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:21366000-21366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:21366200-21367200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:21367200-21368800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:21367400-21368600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:21367400-21368800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:21367600-21368400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:21367600-21368600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:21367600-21368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:21367800-21368000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:21367800-21368600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:21368000-21368400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:21368000-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:21368400-21368800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:21368600-21368800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:21378200-21379000	Enhancers	Fetal Brain Female	brain
25	chr4:21378800-21379000	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:21379200-21379400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:21379400-21379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:21379400-21381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:21379600-21386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:21380800-21381000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:21381000-21381200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr4:21381000-21382400	Enhancers	Brain Cingulate Gyrus	brain
33	chr4:21381200-21382200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:21381200-21383200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:21381400-21382800	Enhancers	Brain Hippocampus Middle	brain

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