Variant report

Variant	nsv1049390
Chromosome Location	chr9:72168645-72185751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72170921..72173288-chr9:72491881..72494788,2	MCF-7	breast:

Extended variants
information (count: 616 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183985413	chr9:72168655-72168656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552680872	chr9:72168696-72168697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570991824	chr9:72168718-72168719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188144909	chr9:72168788-72168789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546497441	chr9:72168791-72168792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568295466	chr9:72168834-72168835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58638129	chr9:72168847-72168848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557262168	chr9:72168902-72168903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568512287	chr9:72168910-72168911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539076421	chr9:72168917-72168918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557418694	chr9:72168988-72168989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377508011	chr9:72169009-72169010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370386895	chr9:72169032-72169033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572622058	chr9:72169067-72169068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541586667	chr9:72169082-72169083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12380859	chr9:72169108-72169109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553295250	chr9:72169116-72169117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532607624	chr9:72169138-72169139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575037490	chr9:72169172-72169173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574852840	chr9:72169222-72169223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374785591	chr9:72169223-72169224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542151376	chr9:72169234-72169235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552842131	chr9:72169235-72169236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564036558	chr9:72169249-72169250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192673570	chr9:72169260-72169261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184466667	chr9:72169293-72169294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546235250	chr9:72169323-72169324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564543613	chr9:72169361-72169362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112429262	chr9:72169400-72169401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113961251	chr9:72169439-72169440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528596896	chr9:72169451-72169452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189549475	chr9:72169465-72169466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181820640	chr9:72169490-72169491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12000908	chr9:72169491-72169492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529135261	chr9:72169497-72169498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550581896	chr9:72169517-72169518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568850041	chr9:72169519-72169520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536575051	chr9:72169592-72169593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539015519	chr9:72169627-72169628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563618898	chr9:72169707-72169708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201782992	chr9:72169708-72169709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535365085	chr9:72169724-72169725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550984219	chr9:72169753-72169754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11793862	chr9:72169803-72169804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62567256	chr9:72169810-72169811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9886884	chr9:72169822-72169823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566183975	chr9:72169852-72169853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111435450	chr9:72169899-72169900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184953369	chr9:72169900-72169901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555480922	chr9:72169925-72169926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72163200-72185600	Weak transcription	Aorta	Aorta
2	chr9:72164400-72169400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:72164400-72169400	Weak transcription	Osteobl	bone
4	chr9:72164400-72171000	Weak transcription	Brain Substantia Nigra	brain
5	chr9:72164400-72172400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:72164400-72172400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:72164600-72169600	Weak transcription	Brain Angular Gyrus	brain
8	chr9:72164800-72169800	Weak transcription	Liver	Liver
9	chr9:72169400-72170000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:72169400-72170400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:72169400-72170600	Enhancers	NH-A	brain
12	chr9:72169400-72171200	Enhancers	Osteobl	bone
13	chr9:72169600-72170200	Enhancers	Adipose Nuclei	Adipose
14	chr9:72169600-72170400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:72169600-72171400	Enhancers	Brain Angular Gyrus	brain
16	chr9:72169800-72170000	Enhancers	Fetal Kidney	kidney
17	chr9:72169800-72170200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:72169800-72170200	Enhancers	Ovary	ovary
19	chr9:72169800-72170200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:72169800-72170200	Enhancers	HSMMtube	muscle
21	chr9:72169800-72170200	Enhancers	NHDF-Ad	bronchial
22	chr9:72169800-72170400	Enhancers	HSMM	muscle
23	chr9:72169800-72170400	Enhancers	NHEK	skin
24	chr9:72169800-72170600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:72169800-72170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:72169800-72170600	Enhancers	Liver	Liver
27	chr9:72170000-72170400	Enhancers	NHLF	lung
28	chr9:72170000-72171200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:72170200-72171200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:72170200-72184200	Weak transcription	Ovary	ovary
31	chr9:72170400-72171800	Weak transcription	NHEK	skin
32	chr9:72170400-72176000	Weak transcription	Fetal Kidney	kidney
33	chr9:72170600-72171000	Weak transcription	NH-A	brain
34	chr9:72170600-72171200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:72170600-72171200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:72170600-72175200	Weak transcription	Liver	Liver
37	chr9:72171000-72171400	Enhancers	NH-A	brain
38	chr9:72171000-72171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:72171000-72171600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:72171000-72171600	Enhancers	Brain Substantia Nigra	brain
41	chr9:72171000-72172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:72171200-72171400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:72171200-72171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr9:72171200-72171400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:72171200-72171400	Enhancers	Right Atrium	heart
46	chr9:72171200-72171400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:72171400-72172000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:72171400-72172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:72171400-72180000	Weak transcription	Right Atrium	heart
50	chr9:72171800-72172600	Enhancers	NHEK	skin

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