Variant report

Variant	esv3351385
Chromosome Location	chr9:3038702-3041100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372119940	chr9:3038707-3038708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144939652	chr9:3038724-3038725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186503232	chr9:3038725-3038726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539378467	chr9:3038876-3038877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10124397	chr9:3038913-3038914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572149009	chr9:3038924-3038925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190214043	chr9:3038927-3038928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560902105	chr9:3038940-3038941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138818265	chr9:3038958-3038959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372532327	chr9:3038965-3038966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28394220	chr9:3038979-3038980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200519847	chr9:3038991-3038992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13290269	chr9:3038992-3038993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs58705941	chr9:3039000-3039001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374390402	chr9:3039019-3039020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372962565	chr9:3039034-3039035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10969616	chr9:3039036-3039037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201215357	chr9:3039044-3039045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202075669	chr9:3039045-3039046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200641245	chr9:3039046-3039047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201644009	chr9:3039047-3039048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199741091	chr9:3039050-3039051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61066992	chr9:3039051-3039052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541851097	chr9:3039068-3039069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563755394	chr9:3039070-3039071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143199842	chr9:3039071-3039072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552631104	chr9:3039092-3039093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560084332	chr9:3039122-3039123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181760573	chr9:3039130-3039131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548215430	chr9:3039147-3039148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186112627	chr9:3039152-3039153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536768663	chr9:3039165-3039166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550627653	chr9:3039193-3039194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190877921	chr9:3039216-3039217	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs183448857	chr9:3039259-3039260	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs62533959	chr9:3039299-3039300	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs552898181	chr9:3039312-3039313	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs572805768	chr9:3039332-3039333	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs535324792	chr9:3039336-3039337	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs200477409	chr9:3039346-3039347	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs112102722	chr9:3039348-3039349	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs368308490	chr9:3039349-3039350	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs71329454	chr9:3039375-3039376	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs71507994	chr9:3039376-3039377	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs78344646	chr9:3039384-3039385	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs138702769	chr9:3039409-3039410	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs199517702	chr9:3039410-3039411	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372018437	chr9:3039411-3039412	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10969617	chr9:3039412-3039413	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140578064	chr9:3039414-3039415	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3031200-3039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:3032800-3042200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:3039200-3039400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:3039200-3039400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
5	chr9:3039200-3039600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr9:3039200-3039600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:3039400-3039600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:3039600-3040400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:3040200-3040600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:3040200-3041600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:3040400-3041400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:3040600-3043000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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