Variant report

Variant	esv3481917
Chromosome Location	chr9:10447007-10451921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533785373	chr9:10447016-10447017	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112523644	chr9:10447021-10447022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570926053	chr9:10447079-10447080	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74445718	chr9:10447085-10447086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10511546	chr9:10447115-10447116	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372826135	chr9:10447124-10447125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369245674	chr9:10447131-10447132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141008296	chr9:10447157-10447158	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73408148	chr9:10447177-10447178	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186065483	chr9:10447213-10447214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73408151	chr9:10447249-10447250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs16926043	chr9:10447286-10447287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs78458165	chr9:10447302-10447303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532258020	chr9:10447318-10447319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545449667	chr9:10447329-10447330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386732550	chr9:10447330-10447331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114445018	chr9:10447332-10447333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190482142	chr9:10447339-10447340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73408153	chr9:10447340-10447341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527445279	chr9:10447364-10447365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547590504	chr9:10447375-10447376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570821368	chr9:10447380-10447381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539906135	chr9:10447385-10447386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570934719	chr9:10447386-10447387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73408154	chr9:10447402-10447403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367564222	chr9:10447412-10447413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183053412	chr9:10447419-10447420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146581327	chr9:10447463-10447464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556053433	chr9:10447498-10447499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188665909	chr9:10447535-10447536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192361512	chr9:10447572-10447573	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10445200-10447200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:10445800-10447200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:10446000-10447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:10446200-10447400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:10446600-10447200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr9:10446600-10447200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:10446600-10447600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:10446800-10447200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr9:10447000-10447200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:10447000-10447600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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