Variant report

Variant	nsv1021508
Chromosome Location	chr9:10101315-10131581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1267 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:1267 , 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	rs541103077	chr9:10104619-10104620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183047308	chr9:10104667-10104668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577387585	chr9:10104670-10104671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1876854	chr9:10104705-10104706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4741008	chr9:10104728-10104729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187722425	chr9:10104762-10104763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542683667	chr9:10104767-10104768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529257675	chr9:10104829-10104830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74351581	chr9:10104847-10104848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193292255	chr9:10104850-10104851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551825989	chr9:10104864-10104865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113839082	chr9:10104877-10104878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147658762	chr9:10104880-10104881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551189552	chr9:10104897-10104898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371594416	chr9:10104919-10104920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4741009	chr9:10104924-10104925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369536976	chr9:10104929-10104930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548734447	chr9:10104954-10104955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142354474	chr9:10104957-10104958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534440424	chr9:10104990-10104991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1876855	chr9:10105033-10105034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566101146	chr9:10105056-10105057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557383579	chr9:10105090-10105091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577423567	chr9:10105114-10105115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536893239	chr9:10105138-10105139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146875754	chr9:10105152-10105153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187971794	chr9:10105167-10105168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs291313	chr9:10105185-10105186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72694861	chr9:10105205-10105206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192648861	chr9:10105217-10105218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545184187	chr9:10105231-10105232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35365665	chr9:10105246-10105247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531021720	chr9:10105272-10105273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72694862	chr9:10105279-10105280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531116895	chr9:10105338-10105339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372683916	chr9:10105355-10105356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184730401	chr9:10105359-10105360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530340867	chr9:10105377-10105378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115675674	chr9:10105402-10105403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376979524	chr9:10105406-10105407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188621754	chr9:10105430-10105431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534569954	chr9:10105441-10105442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191928050	chr9:10105452-10105453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556608029	chr9:10105459-10105460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147959135	chr9:10105475-10105476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369387098	chr9:10105486-10105487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571039680	chr9:10105492-10105493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72694863	chr9:10105514-10105515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556755663	chr9:10105568-10105569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72694864	chr9:10105587-10105588	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
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10104600-10105400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:10104800-10105000	Enhancers	Fetal Brain Female	brain
3	chr9:10105400-10107000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:10107000-10107200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr9:10107200-10107400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:10107400-10108000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:10107600-10108800	Weak transcription	Fetal Brain Female	brain
8	chr9:10108000-10111600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr9:10108200-10109000	Enhancers	Fetal Heart	heart
10	chr9:10108800-10109000	Enhancers	Fetal Brain Female	brain
11	chr9:10109000-10109800	Flanking Active TSS	Fetal Heart	heart
12	chr9:10109000-10112000	Weak transcription	Fetal Brain Female	brain
13	chr9:10109800-10110400	Enhancers	Fetal Lung	lung
14	chr9:10109800-10110800	Enhancers	Fetal Heart	heart
15	chr9:10110000-10110400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:10110200-10110600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:10110800-10111800	Weak transcription	Fetal Heart	heart
18	chr9:10111600-10111800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:10111800-10114200	Enhancers	Fetal Heart	heart
20	chr9:10111800-10119000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:10112000-10112800	Enhancers	Fetal Brain Female	brain
22	chr9:10112400-10113200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:10112800-10113400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:10113800-10114400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:10114000-10114400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:10114400-10115400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:10115400-10115600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr9:10119000-10119400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr9:10122800-10123200	Enhancers	Fetal Heart	heart
30	chr9:10123200-10135600	Weak transcription	Fetal Heart	heart
31	chr9:10128400-10128600	Bivalent Enhancer	Aorta	Aorta
32	chr9:10128600-10128800	Flanking Bivalent TSS/Enh	Aorta	Aorta
33	chr9:10129600-10131200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:10130200-10131600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:10130400-10131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:10130800-10131400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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