Variant report

Variant	nsv528269
Chromosome Location	chr9:110402957-110410888
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	chr9:110398297..110401226-chr9:110410750..110413610,2	MCF-7	breast:

Extended variants
information (count: 319 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:319 , 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	rs10978958	chr9:110402957-110402958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543349320	chr9:110402965-110402966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79510708	chr9:110402988-110402989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182101775	chr9:110402989-110402990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531939256	chr9:110403026-110403027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573349255	chr9:110403031-110403032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568736425	chr9:110403044-110403045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540857924	chr9:110403045-110403046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536066100	chr9:110403051-110403052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73653614	chr9:110403117-110403118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12352880	chr9:110403148-110403149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184851827	chr9:110403153-110403154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117082639	chr9:110403168-110403169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570013486	chr9:110403244-110403245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188000479	chr9:110403253-110403254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369157461	chr9:110403287-110403288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180862968	chr9:110403322-110403323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574343049	chr9:110403357-110403358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373205838	chr9:110403358-110403359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553540129	chr9:110403379-110403380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531549775	chr9:110403385-110403386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576544697	chr9:110403386-110403387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545861323	chr9:110403389-110403390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563997479	chr9:110403407-110403408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531353596	chr9:110403410-110403411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139008342	chr9:110403448-110403449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562372060	chr9:110403450-110403451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529611893	chr9:110403491-110403492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185356027	chr9:110403511-110403512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141574418	chr9:110403556-110403557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191248855	chr9:110403599-110403600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551865286	chr9:110403632-110403633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570009801	chr9:110403688-110403689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181541291	chr9:110403690-110403691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562145759	chr9:110403694-110403695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555336079	chr9:110403731-110403732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568053039	chr9:110403749-110403750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529687641	chr9:110403793-110403794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80308593	chr9:110403802-110403803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553578847	chr9:110403808-110403809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572227419	chr9:110403824-110403825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545645429	chr9:110403840-110403841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560430415	chr9:110403862-110403863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186670943	chr9:110403886-110403887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13284777	chr9:110403887-110403888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551548513	chr9:110403893-110403894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147110297	chr9:110403916-110403917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556209610	chr9:110403917-110403918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543491080	chr9:110403977-110403978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138594232	chr9:110403983-110403984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110400600-110407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:110401200-110406800	Weak transcription	Placenta	Placenta
3	chr9:110401400-110407600	Weak transcription	Psoas Muscle	Psoas
4	chr9:110401600-110410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:110401800-110407000	Weak transcription	HUVEC	blood vessel
6	chr9:110402000-110406800	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:110402000-110407000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:110402000-110407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:110402000-110407200	Weak transcription	Adipose Nuclei	Adipose
10	chr9:110402000-110407200	Weak transcription	Fetal Stomach	stomach
11	chr9:110402000-110407400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:110402000-110407400	Weak transcription	Fetal Lung	lung
13	chr9:110402000-110407400	Weak transcription	Lung	lung
14	chr9:110402000-110407400	Weak transcription	Ovary	ovary
15	chr9:110402000-110407400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:110402000-110407400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:110402000-110407400	Weak transcription	Stomach Mucosa	stomach
18	chr9:110402000-110407600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:110402200-110406200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:110402200-110406600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:110402200-110407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:110402400-110406800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:110402400-110406800	Weak transcription	Fetal Thymus	thymus
24	chr9:110402400-110407000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:110402400-110407400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:110402400-110407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:110406200-110408800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr9:110406600-110407400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr9:110406800-110407800	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:110406800-110407800	Enhancers	Fetal Thymus	thymus
31	chr9:110406800-110408000	Enhancers	Fetal Muscle Leg	muscle
32	chr9:110406800-110408000	Enhancers	Placenta	Placenta
33	chr9:110406800-110408000	Enhancers	Left Ventricle	heart
34	chr9:110406800-110408200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:110407000-110407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:110407000-110408000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr9:110407000-110408000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:110407000-110408000	Enhancers	Liver	Liver
39	chr9:110407000-110408000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:110407000-110408200	Enhancers	HUVEC	blood vessel
41	chr9:110407200-110407800	Enhancers	Brain Anterior Caudate	brain
42	chr9:110407200-110407800	Enhancers	Fetal Stomach	stomach
43	chr9:110407200-110408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:110407200-110408200	Enhancers	Adipose Nuclei	Adipose
45	chr9:110407400-110407600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:110407400-110407600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:110407400-110407600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:110407400-110407600	Enhancers	HSMM	muscle
49	chr9:110407400-110407600	Enhancers	NHDF-Ad	bronchial
50	chr9:110407400-110407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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