Variant report

Variant	nsv1009747
Chromosome Location	chr4:44967004-45006323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
3	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
4	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Extended variants
information (count: 1486 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1486 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4535368	chr4:44967004-44967005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4634257	chr4:44967018-44967019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4447893	chr4:44967042-44967043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149072624	chr4:44967074-44967075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77912092	chr4:44967075-44967076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549553568	chr4:44967078-44967079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151212762	chr4:44967092-44967093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568159816	chr4:44967094-44967095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535497409	chr4:44967113-44967114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180691411	chr4:44967156-44967157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543592549	chr4:44967209-44967210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5857981	chr4:44967215-44967216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570234851	chr4:44967216-44967217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371069021	chr4:44967219-44967220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572643026	chr4:44967225-44967226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186109953	chr4:44967257-44967258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5857982	chr4:44967295-44967296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36030683	chr4:44967296-44967297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35278185	chr4:44967298-44967299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370438352	chr4:44967319-44967320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576704412	chr4:44967378-44967379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543796297	chr4:44967383-44967384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146323122	chr4:44967457-44967458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139177866	chr4:44967476-44967477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191926604	chr4:44967489-44967490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143101244	chr4:44967495-44967496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375379519	chr4:44967514-44967515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527463852	chr4:44967525-44967526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73244692	chr4:44967529-44967530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150468877	chr4:44967543-44967544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531557248	chr4:44967553-44967554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113722651	chr4:44967578-44967579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567911653	chr4:44967595-44967596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35677903	chr4:44967606-44967607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138274162	chr4:44967625-44967626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149604872	chr4:44967626-44967627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528912773	chr4:44967637-44967638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547818253	chr4:44967638-44967639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559747062	chr4:44967639-44967640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7690335	chr4:44967640-44967641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565813827	chr4:44967641-44967642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112308429	chr4:44967642-44967643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374370403	chr4:44967643-44967644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558114318	chr4:44967644-44967645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570232067	chr4:44967649-44967650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57010074	chr4:44967664-44967665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566042373	chr4:44967666-44967667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537303953	chr4:44967761-44967762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73244693	chr4:44967793-44967794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs73244694	chr4:44967805-44967806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:44966800-44967200	Weak transcription	HMEC	breast
4	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:44967200-44969400	Enhancers	HMEC	breast
6	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
9	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:44984200-44984400	Enhancers	HMEC	breast
12	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:44984400-44985400	Weak transcription	HMEC	breast
15	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44985400-44988000	Enhancers	HMEC	breast
18	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
19	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:44996800-44997400	Enhancers	HMEC	breast
25	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr4:45006200-45008400	Enhancers	HMEC	breast
31	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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