Variant report

Variant	nsv613356
Chromosome Location	chr9:9882950-9926888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
2	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
3	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:
4	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:

Extended variants
information (count: 2315 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183005837	chr9:9884433-9884434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140693693	chr9:9884462-9884463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559162686	chr9:9884468-9884469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528381960	chr9:9884484-9884485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532794599	chr9:9884488-9884489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551386412	chr9:9884503-9884504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150495660	chr9:9884511-9884512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16930490	chr9:9884526-9884527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551025433	chr9:9884547-9884548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10117984	chr9:9884561-9884562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138266598	chr9:9884562-9884563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149623942	chr9:9884584-9884585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550633093	chr9:9884603-9884604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562777128	chr9:9884621-9884622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554281738	chr9:9884628-9884629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559003848	chr9:9884720-9884721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187907565	chr9:9884737-9884738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529915293	chr9:9884777-9884778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191525436	chr9:9884786-9884787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12552585	chr9:9884790-9884791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548186163	chr9:9884813-9884814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573392448	chr9:9884832-9884833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542360903	chr9:9884857-9884858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568078389	chr9:9884860-9884861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182591180	chr9:9884870-9884871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143940920	chr9:9884886-9884887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572958853	chr9:9884897-9884898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187246279	chr9:9884898-9884899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565053404	chr9:9884922-9884923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138706563	chr9:9884961-9884962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60188068	chr9:9884967-9884968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115172193	chr9:9884968-9884969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548694725	chr9:9884977-9884978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576590971	chr9:9884982-9884983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73400655	chr9:9884992-9884993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567021217	chr9:9885001-9885002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538885045	chr9:9885004-9885005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571097885	chr9:9885006-9885007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114192639	chr9:9885007-9885008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192116021	chr9:9885022-9885023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556536126	chr9:9885044-9885045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142759380	chr9:9885068-9885069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184704400	chr9:9885132-9885133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116891837	chr9:9885166-9885167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74500091	chr9:9885175-9885176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189224807	chr9:9885179-9885180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147341693	chr9:9885205-9885206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565129697	chr9:9885215-9885216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78158837	chr9:9885229-9885230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575099578	chr9:9885249-9885250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:9888400-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:9889600-9890000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:9893800-9894400	Enhancers	HMEC	breast
7	chr9:9894000-9894400	Enhancers	Placenta	Placenta
8	chr9:9895000-9897000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:9895200-9895400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:9895200-9896000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:9895400-9903800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:9895600-9895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:9896000-9897000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:9896000-9897000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:9897000-9897200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr9:9897000-9897400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:9897200-9904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:9901000-9901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:9901000-9901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:9901600-9902000	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:9901600-9904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:9901800-9902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:9901800-9903000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:9902000-9902200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr9:9902000-9903000	Enhancers	Primary B cells from cord blood	blood
26	chr9:9902200-9902400	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:9902200-9903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:9902400-9902600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:9903000-9903200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:9903000-9903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:9903000-9904000	Weak transcription	Primary B cells from cord blood	blood
33	chr9:9903200-9904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:9903400-9904400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:9903600-9904400	Enhancers	Dnd41	blood
37	chr9:9903800-9904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr9:9904000-9904400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr9:9904000-9905000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:9904200-9904400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr9:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
43	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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