Variant report

Variant	esv2761273
Chromosome Location	chr9:9880593-9886503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113189611	chr9:9880599-9880600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183466638	chr9:9880610-9880611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569395711	chr9:9880672-9880673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186658185	chr9:9880708-9880709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10117699	chr9:9880755-9880756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79423927	chr9:9880781-9880782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542234475	chr9:9880866-9880867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141257793	chr9:9880909-9880910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572584731	chr9:9880916-9880917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192725506	chr9:9880926-9880927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10978058	chr9:9880954-9880955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530629510	chr9:9880973-9880974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545078468	chr9:9880985-9880986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544462402	chr9:9880991-9880992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561189572	chr9:9880993-9880994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530045864	chr9:9881001-9881002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7865655	chr9:9881015-9881016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs566912277	chr9:9881044-9881045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532636092	chr9:9881051-9881052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10978059	chr9:9881068-9881069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs573379488	chr9:9881111-9881112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569391957	chr9:9881153-9881154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182780722	chr9:9881173-9881174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188445678	chr9:9881176-9881177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548834294	chr9:9881180-9881181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568391250	chr9:9881184-9881185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16930479	chr9:9881232-9881233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552538965	chr9:9881277-9881278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572511186	chr9:9881286-9881287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7852681	chr9:9881291-9881292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545026829	chr9:9881310-9881311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139002269	chr9:9881317-9881318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192880687	chr9:9881324-9881325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200740089	chr9:9881382-9881383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544055160	chr9:9881383-9881384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575626490	chr9:9881401-9881402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184447004	chr9:9881426-9881427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74809515	chr9:9881431-9881432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532576317	chr9:9881472-9881473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560478766	chr9:9881487-9881488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12343379	chr9:9881493-9881494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10978060	chr9:9881511-9881512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561115069	chr9:9881515-9881516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142263937	chr9:9881522-9881523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531859044	chr9:9881562-9881563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548355603	chr9:9881570-9881571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17301615	chr9:9881590-9881591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs16930482	chr9:9881605-9881606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547697755	chr9:9881624-9881625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10115439	chr9:9881629-9881630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9880400-9881600	Weak transcription	Placenta	Placenta
2	chr9:9881400-9882000	Enhancers	HMEC	breast
3	chr9:9881600-9881800	Enhancers	Placenta	Placenta
4	chr9:9884400-9908200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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