Variant report

Variant	nsv878782
Chromosome Location	chr4:28624265-28706757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28654800..28656998-chr4:28661413..28663386,2	MCF-7	breast:
2	chr4:28690061..28692565-chr4:28693804..28695877,2	K562	blood:
3	chr4:28642172..28644284-chr4:28671364..28674142,2	MCF-7	breast:
4	chr4:28699826..28702524-chr4:28704115..28706351,2	MCF-7	breast:
5	chr4:28642172..28644284-chr4:28671364..28674142,2	MCF-7	breast:
6	chr4:28666962..28669631-chr4:28671140..28674094,2	K562	blood:
7	chr4:28464145..28465046-chr4:28688173..28688894,2	MCF-7	breast:
8	chr4:28690061..28692565-chr4:28693804..28695877,2	K562	blood:
9	chr4:28619270..28620926-chr4:28622787..28624765,2	MCF-7	breast:
10	chr4:28699826..28702524-chr4:28704115..28706351,2	MCF-7	breast:
11	chr2:19310340..19311108-chr4:28646906..28647846,2	MCF-7	breast:
12	chr4:28683044..28685145-chr4:28691951..28693893,2	K562	blood:
13	chr4:28654800..28656998-chr4:28661413..28663386,2	MCF-7	breast:
14	chr4:28683044..28685145-chr4:28691951..28693893,2	K562	blood:
15	chr4:28666962..28669631-chr4:28671140..28674094,2	K562	blood:

No data

Extended variants
information (count: 1287 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4368591	chr4:28624265-28624266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538135866	chr4:28624273-28624274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182713931	chr4:28624280-28624281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4368592	chr4:28624379-28624380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539946349	chr4:28624381-28624382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112557860	chr4:28624433-28624434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144709630	chr4:28624447-28624448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7664755	chr4:28624472-28624473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375669029	chr4:28624475-28624476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188847382	chr4:28624478-28624479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144694598	chr4:28624512-28624513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs207464440	chr4:28624520-28624521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148504413	chr4:28624529-28624530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561865390	chr4:28624573-28624574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561445653	chr4:28624574-28624575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4280716	chr4:28624594-28624595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4373152	chr4:28624612-28624613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374752060	chr4:28624626-28624627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535278434	chr4:28624653-28624654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386672877	chr4:28624674-28624675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539101894	chr4:28624678-28624679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552324590	chr4:28624690-28624691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4374613	chr4:28624698-28624699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142763750	chr4:28624723-28624724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193215112	chr4:28624757-28624758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568326741	chr4:28624759-28624760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534167030	chr4:28624760-28624761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182890467	chr4:28624833-28624834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551096527	chr4:28624851-28624852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545846916	chr4:28624866-28624867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555906706	chr4:28624878-28624879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151123015	chr4:28624907-28624908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374227595	chr4:28624921-28624922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141379896	chr4:28624922-28624923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544464083	chr4:28624924-28624925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10805276	chr4:28624925-28624926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540896807	chr4:28625013-28625014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564291549	chr4:28625035-28625036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372305140	chr4:28625048-28625049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532514512	chr4:28625050-28625051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552613828	chr4:28625059-28625060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115052304	chr4:28625060-28625061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187349704	chr4:28625073-28625074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73807333	chr4:28625089-28625090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568464888	chr4:28625102-28625103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4593119	chr4:28625230-28625231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559893431	chr4:28625232-28625233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570993467	chr4:28625246-28625247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539161146	chr4:28625247-28625248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556181513	chr4:28625248-28625249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28623800-28641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28629800-28630200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:28632800-28641400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:28641200-28641400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:28641400-28641600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:28655800-28656400	Enhancers	HMEC	breast
7	chr4:28655800-28656600	Enhancers	HUVEC	blood vessel
8	chr4:28656000-28656600	Enhancers	NHEK	skin
9	chr4:28661600-28662200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:28669600-28669800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:28673200-28674000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:28673400-28673800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:28673800-28674800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:28675000-28675200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:28676800-28677000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:28678200-28678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:28678600-28679200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:28678800-28682000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:28679200-28679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:28679200-28679800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:28679400-28680000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:28679600-28679800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:28679600-28679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:28679600-28680400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:28679800-28680000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:28680000-28681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:28680000-28682600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:28680400-28681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:28681600-28684400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:28681600-28684400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:28681800-28684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:28682000-28682800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:28682000-28682800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr4:28682200-28682800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:28682200-28684400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:28682200-28685400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:28682400-28682800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:28682400-28684200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:28682600-28683200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:28682800-28683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:28682800-28683800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:28682800-28684800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:28682800-28685200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:28683000-28683200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:28683200-28684400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:28683200-28685000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:28683800-28684200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:28683800-28684200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:28684000-28684200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:28684000-28684800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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