Variant report

Variant	esv3366152
Chromosome Location	chr9:1556001-1583510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 427 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs771925	chr9:1556018-1556019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7873915	chr9:1556054-1556055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551195924	chr9:1556064-1556065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73388011	chr9:1556087-1556088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533718677	chr9:1556103-1556104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371928684	chr9:1556121-1556122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56336264	chr9:1556151-1556152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532344941	chr9:1556160-1556161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564574611	chr9:1556170-1556171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577125391	chr9:1556175-1556176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536811505	chr9:1556176-1556177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74781559	chr9:1556179-1556180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187484105	chr9:1556181-1556182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373791917	chr9:1556182-1556183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192291073	chr9:1556191-1556192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534033882	chr9:1556195-1556196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552678151	chr9:1556206-1556207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111268415	chr9:1556212-1556213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562569529	chr9:1556245-1556246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185467176	chr9:1556251-1556252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190722836	chr9:1556253-1556254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79634394	chr9:1556281-1556282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78897668	chr9:1556282-1556283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548291028	chr9:1556293-1556294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369793824	chr9:1556296-1556297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561716993	chr9:1556328-1556329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192172382	chr9:1556343-1556344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58064970	chr9:1556369-1556370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372529924	chr9:1556371-1556372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201638720	chr9:1556372-1556373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116836337	chr9:1556377-1556378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533444564	chr9:1556402-1556403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145310651	chr9:1556418-1556419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566848163	chr9:1556454-1556455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372953036	chr9:1556483-1556484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs771926	chr9:1556487-1556488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530617824	chr9:1556492-1556493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368913340	chr9:1556504-1556505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75295734	chr9:1556510-1556511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569002458	chr9:1556514-1556515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184492418	chr9:1556544-1556545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138290982	chr9:1556569-1556570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs771927	chr9:1556594-1556595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114552953	chr9:1556601-1556602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553204339	chr9:1556602-1556603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573175414	chr9:1556603-1556604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189365297	chr9:1556638-1556639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570812212	chr9:1556656-1556657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555441154	chr9:1556676-1556677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181170725	chr9:1556692-1556693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
8	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood

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