Variant report

Variant	nsv1008816
Chromosome Location	chr4:21360039-21376839
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: 341 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:341 , 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	rs559866163	chr4:21360601-21360602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190194583	chr4:21360665-21360666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558002021	chr4:21360669-21360670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576265857	chr4:21360683-21360684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71189692	chr4:21360714-21360715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398092226	chr4:21360718-21360719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141374606	chr4:21360822-21360823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555746641	chr4:21360935-21360936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182632279	chr4:21360971-21360972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371097647	chr4:21360972-21360973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188319880	chr4:21361022-21361023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375398900	chr4:21361073-21361074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560264921	chr4:21361101-21361102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547606954	chr4:21361116-21361117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572524137	chr4:21361117-21361118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567514922	chr4:21361126-21361127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545856941	chr4:21361145-21361146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193195804	chr4:21361175-21361176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531742778	chr4:21361187-21361188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549956279	chr4:21361195-21361196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562442396	chr4:21361196-21361197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529541986	chr4:21361230-21361231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547393850	chr4:21361261-21361262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565507299	chr4:21361264-21361265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183645526	chr4:21361273-21361274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207464380	chr4:21361361-21361362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189086588	chr4:21361500-21361501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192191291	chr4:21361520-21361521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536499959	chr4:21361605-21361606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs36012574	chr4:21361664-21361665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537282903	chr4:21361682-21361683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16870916	chr4:21361694-21361695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375585215	chr4:21361700-21361701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12501359	chr4:21361701-21361702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183871970	chr4:21361709-21361710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188384754	chr4:21361725-21361726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572307740	chr4:21361738-21361739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545893654	chr4:21361765-21361766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563001969	chr4:21361772-21361773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146985610	chr4:21361789-21361790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191718804	chr4:21361791-21361792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543640050	chr4:21361836-21361837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184312085	chr4:21361855-21361856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538233635	chr4:21361878-21361879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529609456	chr4:21361898-21361899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116456790	chr4:21361907-21361908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559305342	chr4:21362009-21362010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533006658	chr4:21362014-21362015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551387836	chr4:21362163-21362164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569802579	chr4:21362184-21362185	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21360600-21360800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:21360800-21362000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:21361600-21364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:21362000-21362800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:21362000-21363400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:21362000-21364000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:21362200-21362400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:21362200-21362600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:21362600-21363400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:21362800-21363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:21362800-21364400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:21363000-21365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:21363200-21364200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:21363400-21363600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:21363400-21367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:21363600-21363800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:21363800-21364000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:21364000-21364800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:21364000-21367400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:21364000-21368400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:21364200-21367400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:21364200-21368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:21364400-21364800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:21364800-21365000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:21364800-21366000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:21365000-21367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:21366000-21366200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:21366200-21367200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:21367200-21368800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:21367400-21368600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:21367400-21368800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:21367600-21368400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:21367600-21368600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:21367600-21368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:21367800-21368000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:21367800-21368600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:21368000-21368400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:21368000-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:21368400-21368800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:21368600-21368800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links