Variant report

Variant	nsv613355
Chromosome Location	chr9:9859571-9962204
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:
4	chr9:9910391..9912203-chr9:9917426..9920377,2	K562	blood:

Extended variants
information (count: 4123 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:4123 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10125513	chr9:9859571-9859572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149748800	chr9:9859575-9859576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527979328	chr9:9859594-9859595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115798597	chr9:9859666-9859667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78334041	chr9:9859695-9859696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35518260	chr9:9859702-9859703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185544267	chr9:9859738-9859739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13284005	chr9:9859750-9859751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1570594	chr9:9859772-9859773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562356730	chr9:9859773-9859774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567498969	chr9:9859778-9859779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527995445	chr9:9859787-9859788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546152158	chr9:9859794-9859795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145542373	chr9:9859839-9859840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532007029	chr9:9859846-9859847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534508035	chr9:9859849-9859850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568900129	chr9:9859852-9859853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533395491	chr9:9859978-9859979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62533747	chr9:9859981-9859982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568311198	chr9:9860002-9860003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138235052	chr9:9860013-9860014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577837845	chr9:9860025-9860026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142338438	chr9:9860050-9860051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10978042	chr9:9860052-9860053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528825668	chr9:9860066-9860067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116218022	chr9:9860075-9860076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539885050	chr9:9860116-9860117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556656762	chr9:9860184-9860185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190650901	chr9:9860229-9860230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576466109	chr9:9860255-9860256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146827652	chr9:9860269-9860270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574847659	chr9:9860295-9860296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555694815	chr9:9860302-9860303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572633269	chr9:9860322-9860323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541302794	chr9:9860333-9860334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140488556	chr9:9860341-9860342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145624386	chr9:9860358-9860359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138230906	chr9:9860373-9860374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72692713	chr9:9860395-9860396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10978043	chr9:9860402-9860403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141076460	chr9:9860404-9860405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75190884	chr9:9860411-9860412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76619232	chr9:9860416-9860417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113406158	chr9:9860455-9860456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534625888	chr9:9860509-9860510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192174697	chr9:9860543-9860544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117187522	chr9:9860626-9860627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117421056	chr9:9860654-9860655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556302939	chr9:9860692-9860693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16874	chr9:9860735-9860736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9855600-9861000	Weak transcription	Dnd41	blood
2	chr9:9856200-9860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:9856200-9862400	Weak transcription	Fetal Thymus	thymus
4	chr9:9860200-9861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:9860800-9861600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9861000-9862200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:9861000-9862200	Enhancers	Dnd41	blood
8	chr9:9861400-9862600	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:9861600-9862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:9862000-9863000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:9862200-9862400	Active TSS	Thymus	Thymus
12	chr9:9862200-9862600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:9862200-9862800	Flanking Active TSS	Dnd41	blood
14	chr9:9862400-9862800	Enhancers	Primary T cells from cord blood	blood
15	chr9:9862400-9862800	Flanking Active TSS	Thymus	Thymus
16	chr9:9862400-9863000	Enhancers	Fetal Thymus	thymus
17	chr9:9862600-9862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:9862800-9863600	Enhancers	Thymus	Thymus
19	chr9:9862800-9863800	Enhancers	Dnd41	blood
20	chr9:9863000-9863400	Weak transcription	Fetal Thymus	thymus
21	chr9:9863400-9863600	Enhancers	Fetal Thymus	thymus
22	chr9:9863600-9867800	Weak transcription	Fetal Thymus	thymus
23	chr9:9863600-9867800	Weak transcription	Thymus	Thymus
24	chr9:9863800-9867800	Weak transcription	Dnd41	blood
25	chr9:9867800-9868200	Enhancers	Fetal Thymus	thymus
26	chr9:9867800-9868200	Enhancers	Thymus	Thymus
27	chr9:9867800-9868200	Enhancers	Dnd41	blood
28	chr9:9873400-9874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:9874000-9874800	Enhancers	Primary hematopoietic stem cells	blood
30	chr9:9874200-9874600	Enhancers	Dnd41	blood
31	chr9:9874200-9874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:9874600-9879200	Weak transcription	Dnd41	blood
33	chr9:9877600-9878400	Enhancers	Placenta	Placenta
34	chr9:9878400-9880000	Weak transcription	Placenta	Placenta
35	chr9:9879200-9880200	Enhancers	Dnd41	blood
36	chr9:9879600-9880000	Enhancers	Primary T cells from cord blood	blood
37	chr9:9879600-9880200	Enhancers	Fetal Thymus	thymus
38	chr9:9879600-9880200	Enhancers	Thymus	Thymus
39	chr9:9880000-9880400	Enhancers	Placenta	Placenta
40	chr9:9880400-9881600	Weak transcription	Placenta	Placenta
41	chr9:9881400-9882000	Enhancers	HMEC	breast
42	chr9:9881600-9881800	Enhancers	Placenta	Placenta
43	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:9888200-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:9888400-9888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:9889600-9890000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:9893800-9894400	Enhancers	HMEC	breast
49	chr9:9894000-9894400	Enhancers	Placenta	Placenta
50	chr9:9895000-9897000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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