Variant report

Variant	esv1832542
Chromosome Location	chr9:11401387-11430659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 864 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2382295	chr9:11401387-11401388	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376014584	chr9:11401396-11401397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549085648	chr9:11401414-11401415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2382296	chr9:11401425-11401426	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139518155	chr9:11401438-11401439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10959769	chr9:11401471-11401472	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557784080	chr9:11401508-11401509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76956041	chr9:11401510-11401511	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547246015	chr9:11401526-11401527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539240948	chr9:11401542-11401543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556074790	chr9:11401560-11401561	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs117690180	chr9:11401571-11401572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73405296	chr9:11401572-11401573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145470620	chr9:11401573-11401574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187013712	chr9:11401574-11401575	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10959772	chr9:11402429-11402430	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74420382	chr9:11402433-11402434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567546871	chr9:11402450-11402451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10121493	chr9:11402453-11402454	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534630508	chr9:11402455-11402456	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557807983	chr9:11402492-11402493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs58669772	chr9:11402493-11402494	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537152868	chr9:11402499-11402500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145962465	chr9:11402507-11402508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs4593654	chr9:11402513-11402514	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375989239	chr9:11402535-11402536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543191121	chr9:11402588-11402589	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375836586	chr9:11402603-11402604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4483254	chr9:11402619-11402620	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138797586	chr9:11402623-11402624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4560889	chr9:11402624-11402625	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4483255	chr9:11402634-11402635	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182298638	chr9:11402649-11402650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371045161	chr9:11402718-11402719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186616636	chr9:11402776-11402777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs530485658	chr9:11413201-11413202	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550769451	chr9:11413218-11413219	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567471559	chr9:11413219-11413220	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536592032	chr9:11413235-11413236	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553381568	chr9:11413295-11413296	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566892393	chr9:11413316-11413317	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538634151	chr9:11413342-11413343	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147756008	chr9:11413348-11413349	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372818247	chr9:11413349-11413350	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575825759	chr9:11413353-11413354	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112061456	chr9:11413359-11413360	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557196109	chr9:11413360-11413361	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573877865	chr9:11413361-11413362	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192110049	chr9:11413365-11413366	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183904202	chr9:11413367-11413368	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
abnormal development	18461090	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
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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11401200-11401600	Active TSS	Fetal Brain Male	brain
2	chr9:11402400-11402800	Active TSS	Fetal Heart	heart
3	chr9:11413200-11413600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:11413200-11414600	ZNF genes & repeats	Spleen	Spleen
5	chr9:11413600-11413800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:11413600-11414000	ZNF genes & repeats	Pancreas	Pancrea
7	chr9:11414000-11421000	Weak transcription	Pancreas	Pancrea
8	chr9:11416800-11418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:11417800-11425800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:11425800-11426000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:11426200-11426600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:11426600-11431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:11427600-11428800	Enhancers	Fetal Heart	heart
14	chr9:11428800-11429200	Weak transcription	Fetal Heart	heart
15	chr9:11429200-11429400	Enhancers	Fetal Heart	heart
16	chr9:11429400-11432400	Weak transcription	Fetal Heart	heart

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