Variant report

Variant	nsv471277
Chromosome Location	chr9:9897866-9912826
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	chr9:9909349..9911001-chr9:9913324..9915741,2	MCF-7	breast:
2	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:

Extended variants
information (count: 913 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:913 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978072	chr9:9897866-9897867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74509005	chr9:9897873-9897874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192664929	chr9:9897891-9897892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184450854	chr9:9897894-9897895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536170516	chr9:9897898-9897899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554577410	chr9:9897902-9897903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189532598	chr9:9897906-9897907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540264501	chr9:9897909-9897910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559980837	chr9:9897920-9897921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576916853	chr9:9897928-9897929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545630795	chr9:9897948-9897949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376800532	chr9:9897985-9897986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561116080	chr9:9897989-9897990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562710469	chr9:9898007-9898008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139729508	chr9:9898014-9898015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144035843	chr9:9898089-9898090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146463675	chr9:9898097-9898098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181134816	chr9:9898144-9898145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78122825	chr9:9898154-9898155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570855840	chr9:9898166-9898167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377294266	chr9:9898216-9898217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184202649	chr9:9898229-9898230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139799919	chr9:9898231-9898232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371529517	chr9:9898248-9898249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570284188	chr9:9898267-9898268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536082427	chr9:9898280-9898281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78891698	chr9:9898308-9898309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189069543	chr9:9898320-9898321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369796802	chr9:9898337-9898338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142046027	chr9:9898357-9898358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553729229	chr9:9898368-9898369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576821195	chr9:9898376-9898377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553835001	chr9:9898404-9898405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554484313	chr9:9898424-9898425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530464310	chr9:9898436-9898437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139685503	chr9:9898469-9898470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151147101	chr9:9898505-9898506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16930518	chr9:9898526-9898527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116370971	chr9:9898538-9898539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569969762	chr9:9898547-9898548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12238709	chr9:9898548-9898549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541019834	chr9:9898549-9898550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564515802	chr9:9898569-9898570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533240138	chr9:9898576-9898577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10759095	chr9:9898577-9898578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573270048	chr9:9898581-9898582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76500629	chr9:9898603-9898604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140358266	chr9:9898624-9898625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150376735	chr9:9898644-9898645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181734803	chr9:9898696-9898697	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:9895400-9903800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9897200-9904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:9901000-9901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:9901000-9901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9901600-9902000	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:9901600-9904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:9901800-9902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:9901800-9903000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:9902000-9902200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr9:9902000-9903000	Enhancers	Primary B cells from cord blood	blood
12	chr9:9902200-9902400	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:9902200-9903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:9902400-9902600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:9903000-9903200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:9903000-9903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:9903000-9904000	Weak transcription	Primary B cells from cord blood	blood
19	chr9:9903200-9904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:9903400-9904400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:9903600-9904400	Enhancers	Dnd41	blood
23	chr9:9903800-9904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:9904000-9904400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr9:9904000-9905000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:9904200-9904400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr9:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
29	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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