Variant report

Variant	nsv4264
Chromosome Location	chr4:21138131-21199262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
2	chr4:21186540..21187139-chr4:21470730..21471606,2	MCF-7	breast:
3	chr4:21186139..21187069-chr4:21470759..21471732,3	MCF-7	breast:
4	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:

Extended variants
information (count: 798 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16870439	chr4:21138156-21138157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56052027	chr4:21138192-21138193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191221060	chr4:21138193-21138194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547882402	chr4:21138219-21138220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183726874	chr4:21138264-21138265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188262187	chr4:21138286-21138287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370224667	chr4:21138299-21138300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34878637	chr4:21138305-21138306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1433483	chr4:21138339-21138340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570003931	chr4:21138362-21138363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537394950	chr4:21138374-21138375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386672387	chr4:21138382-21138383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1433482	chr4:21138383-21138384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs145161519	chr4:21138410-21138411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192791527	chr4:21138428-21138429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73805017	chr4:21138431-21138432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142302220	chr4:21138457-21138458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574883983	chr4:21138471-21138472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563523933	chr4:21138479-21138480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530781567	chr4:21138528-21138529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185127647	chr4:21138535-21138536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146819751	chr4:21138536-21138537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529307967	chr4:21138628-21138629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190009243	chr4:21138675-21138676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566149960	chr4:21138699-21138700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181814877	chr4:21138707-21138708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11360206	chr4:21138732-21138733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551555947	chr4:21138738-21138739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73107431	chr4:21138749-21138750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537314988	chr4:21138763-21138764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538045700	chr4:21152082-21152083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545934791	chr4:21152118-21152119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145532822	chr4:21152132-21152133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576254933	chr4:21152167-21152168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557970420	chr4:21152173-21152174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577869091	chr4:21152188-21152189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543764771	chr4:21152215-21152216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561994474	chr4:21152216-21152217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191617063	chr4:21152225-21152226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540546631	chr4:21152366-21152367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548644120	chr4:21152374-21152375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140338315	chr4:21152390-21152391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527787704	chr4:21152409-21152410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377472686	chr4:21152410-21152411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6854413	chr4:21152422-21152423	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs113506265	chr4:21152470-21152471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538076518	chr4:21152485-21152486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550045480	chr4:21152499-21152500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573936494	chr4:21152617-21152618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552336108	chr4:21152633-21152634	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	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	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	22183965	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21137000-21138800	Enhancers	HUVEC	blood vessel
2	chr4:21152000-21153600	Enhancers	HepG2	liver
3	chr4:21160800-21161200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:21166400-21169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:21175200-21175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:21175200-21176000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:21177000-21179200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:21181400-21181600	Enhancers	Fetal Lung	lung
9	chr4:21181600-21182600	Weak transcription	Fetal Lung	lung
10	chr4:21182600-21183800	Enhancers	Fetal Lung	lung
11	chr4:21185400-21186400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:21186000-21186600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:21186400-21187800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:21187800-21188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:21189000-21189400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:21189200-21192400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:21192400-21192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:21192400-21193400	Enhancers	Fetal Brain Female	brain
19	chr4:21192400-21193600	Enhancers	Brain Germinal Matrix	brain
20	chr4:21193600-21194800	Weak transcription	Brain Germinal Matrix	brain
21	chr4:21194800-21195200	Enhancers	Brain Germinal Matrix	brain

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