Variant report

Variant	nsv1031495
Chromosome Location	chr9:9893071-9914486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1293 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978066	chr9:9893071-9893072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561420095	chr9:9893079-9893080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373353555	chr9:9893082-9893083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189467533	chr9:9893105-9893106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10816217	chr9:9893121-9893122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560320165	chr9:9893127-9893128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552525902	chr9:9893142-9893143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532623495	chr9:9893159-9893160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144644195	chr9:9893187-9893188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564695920	chr9:9893189-9893190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180766882	chr9:9893221-9893222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10978067	chr9:9893238-9893239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113004795	chr9:9893243-9893244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184975441	chr9:9893244-9893245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573538613	chr9:9893299-9893300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112794250	chr9:9893316-9893317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115616569	chr9:9893329-9893330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370081786	chr9:9893332-9893333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566688744	chr9:9893357-9893358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147462412	chr9:9893359-9893360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140151302	chr9:9893374-9893375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145667226	chr9:9893376-9893377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538231033	chr9:9893392-9893393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557276270	chr9:9893406-9893407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554714608	chr9:9893425-9893426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574832038	chr9:9893434-9893435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575792262	chr9:9893439-9893440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540341227	chr9:9893440-9893441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377296181	chr9:9893459-9893460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560276525	chr9:9893503-9893504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577042207	chr9:9893541-9893542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151089653	chr9:9893551-9893552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563179565	chr9:9893561-9893562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10978068	chr9:9893575-9893576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542984151	chr9:9893582-9893583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10978069	chr9:9893583-9893584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181126166	chr9:9893590-9893591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141066994	chr9:9893614-9893615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560723951	chr9:9893623-9893624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529774411	chr9:9893659-9893660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546739891	chr9:9893662-9893663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542645372	chr9:9893684-9893685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528767231	chr9:9893703-9893704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12005505	chr9:9893740-9893741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552130096	chr9:9893750-9893751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562330194	chr9:9893785-9893786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537755063	chr9:9893793-9893794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12003446	chr9:9893798-9893799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568380758	chr9:9893842-9893843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186358747	chr9:9893861-9893862	Weak transcription Enhancers	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:49 , 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	chr9:9893800-9894400	Enhancers	HMEC	breast
3	chr9:9894000-9894400	Enhancers	Placenta	Placenta
4	chr9:9895000-9897000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:9895200-9895400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:9895200-9896000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:9895400-9903800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:9895600-9895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:9896000-9897000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:9896000-9897000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:9897000-9897200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:9897000-9897400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:9897200-9904000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:9901000-9901600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:9901000-9901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:9901600-9902000	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:9901600-9904800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:9901800-9902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:9901800-9903000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:9902000-9902200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr9:9902000-9903000	Enhancers	Primary B cells from cord blood	blood
22	chr9:9902200-9902400	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:9902200-9903400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:9902400-9902600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr9:9902600-9907600	Enhancers	Primary hematopoietic stem cells	blood
26	chr9:9903000-9903200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr9:9903000-9903400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:9903000-9904000	Weak transcription	Primary B cells from cord blood	blood
29	chr9:9903200-9904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr9:9903400-9904400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:9903400-9906200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr9:9903600-9904400	Enhancers	Dnd41	blood
33	chr9:9903800-9904800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:9904000-9904400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr9:9904000-9905000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:9904000-9905200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:9904200-9904400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:9904400-9904600	Enhancers	Primary B cells from cord blood	blood
39	chr9:9904400-9907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:9904800-9907200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:9907200-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:9907600-9912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:9911000-9911600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:9911200-9911600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:9912200-9914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:9913200-9913800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:9913800-9914400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:9914400-9914600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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