Variant report

Variant	nsv967981
Chromosome Location	chr4:28272442-28281577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:28269997..28271505-chr4:28276294..28277941,2	MCF-7	breast:
2	chr4:28278989..28281392-chr4:28295542..28298353,2	MCF-7	breast:
3	chr4:28279196..28281864-chr4:28281921..28283988,2	MCF-7	breast:

Extended variants
information (count: 312 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs576238142	chr4:28272489-28272490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542181304	chr4:28272500-28272501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374464756	chr4:28272535-28272536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534017985	chr4:28272607-28272608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77546494	chr4:28272660-28272661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535121181	chr4:28272667-28272668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540684101	chr4:28272683-28272684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181737049	chr4:28272691-28272692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186810138	chr4:28272734-28272735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188733183	chr4:28272735-28272736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569261607	chr4:28272820-28272821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79632807	chr4:28272823-28272824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73113837	chr4:28272843-28272844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568310082	chr4:28272880-28272881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534127285	chr4:28272898-28272899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79610460	chr4:28272899-28272900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574115354	chr4:28272913-28272914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557950681	chr4:28272954-28272955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570467599	chr4:28273045-28273046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1497715	chr4:28273059-28273060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555872121	chr4:28273111-28273112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1497714	chr4:28273118-28273119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78541313	chr4:28273177-28273178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181162315	chr4:28273185-28273186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560475080	chr4:28273203-28273204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185615838	chr4:28273216-28273217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114128046	chr4:28273251-28273252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200170428	chr4:28273259-28273260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141587231	chr4:28273301-28273302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546312115	chr4:28273333-28273334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1909051	chr4:28273352-28273353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545260947	chr4:28273392-28273393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2132972	chr4:28273395-28273396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373635081	chr4:28273397-28273398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139702864	chr4:28273404-28273405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562051389	chr4:28273484-28273485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13149813	chr4:28273580-28273581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367933301	chr4:28273590-28273591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144349263	chr4:28273591-28273592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547655078	chr4:28273602-28273603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6448569	chr4:28273624-28273625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113095628	chr4:28273703-28273704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182782913	chr4:28273710-28273711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550756768	chr4:28273754-28273755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371711726	chr4:28273773-28273774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564706438	chr4:28273829-28273830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187399917	chr4:28273897-28273898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535452529	chr4:28273920-28273921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58576909	chr4:28273974-28273975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572393611	chr4:28273980-28273981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28235000-28279200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28270400-28272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:28271000-28272600	Enhancers	A549	lung
4	chr4:28272600-28279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:28278400-28278600	Enhancers	Brain Angular Gyrus	brain
6	chr4:28278400-28278600	Enhancers	Brain Anterior Caudate	brain
7	chr4:28278400-28278600	Enhancers	Brain Substantia Nigra	brain
8	chr4:28278600-28280000	Weak transcription	Brain Anterior Caudate	brain
9	chr4:28278600-28280200	Weak transcription	Brain Substantia Nigra	brain
10	chr4:28278800-28280000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:28279000-28280200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:28279200-28282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:28279400-28280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:28279400-28282400	Enhancers	NHEK	skin
15	chr4:28279600-28280000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:28279600-28280400	Enhancers	Stomach Mucosa	stomach
17	chr4:28279600-28280400	Enhancers	HSMM	muscle
18	chr4:28279600-28281400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:28279600-28282000	Enhancers	Brain Hippocampus Middle	brain
20	chr4:28279600-28282000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:28279600-28282200	Enhancers	HMEC	breast
22	chr4:28279600-28282400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:28279600-28282600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:28279800-28280800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:28279800-28281000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:28279800-28281800	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:28280000-28280200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr4:28280000-28280600	Enhancers	Brain Angular Gyrus	brain
29	chr4:28280000-28282600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:28280000-28282600	Enhancers	Brain Anterior Caudate	brain
31	chr4:28280200-28280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:28280200-28281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:28280200-28281200	Enhancers	Brain Substantia Nigra	brain
34	chr4:28280200-28281400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:28280400-28280600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:28280400-28280800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:28280400-28280800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:28280400-28280800	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr4:28280600-28280800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:28280600-28280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:28280600-28281600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:28280600-28283400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:28280800-28283800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:28280800-28284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:28280800-28289600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:28280800-28293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:28281000-28282000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:28281200-28282200	Weak transcription	Brain Substantia Nigra	brain

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