Variant report

Variant	esv2759668
Chromosome Location	chr9:10639445-10680025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:10656522..10658673-chr9:10675612..10678102,2	K562	blood:
2	chr9:10656522..10658673-chr9:10675612..10678102,2	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143898388	chr9:10640447-10640448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530527249	chr9:10640482-10640483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs984119	chr9:10640526-10640527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554366643	chr9:10640531-10640532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566943483	chr9:10640549-10640550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146864409	chr9:10640558-10640559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189799143	chr9:10640591-10640592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112967905	chr9:10640595-10640596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555479015	chr9:10640600-10640601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538871169	chr9:10640647-10640648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377286188	chr9:10640718-10640719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558475457	chr9:10640720-10640721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140722574	chr9:10640771-10640772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538358763	chr9:10640773-10640774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182468141	chr9:10640783-10640784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574916289	chr9:10640786-10640787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16926225	chr9:10648878-10648879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541172758	chr9:10648890-10648891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1923439	chr9:10648898-10648899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533244629	chr9:10648901-10648902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142009666	chr9:10648927-10648928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563321729	chr9:10648941-10648942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571188269	chr9:10648968-10648969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376801422	chr9:10648993-10648994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529581736	chr9:10649043-10649044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536984164	chr9:10649064-10649065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556729189	chr9:10649068-10649069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549617923	chr9:10649089-10649090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538892842	chr9:10649093-10649094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566149831	chr9:10649105-10649106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528637466	chr9:10649152-10649153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551999063	chr9:10649180-10649181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557413679	chr9:10649191-10649192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570599231	chr9:10649199-10649200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539522764	chr9:10649299-10649300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1322303	chr9:10649309-10649310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569602375	chr9:10649369-10649370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535396515	chr9:10649376-10649377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1998341	chr9:10649385-10649386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572248457	chr9:10649496-10649497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114364399	chr9:10649595-10649596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557514659	chr9:10649616-10649617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2208707	chr9:10649660-10649661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs78188559	chr9:10649751-10649752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563356738	chr9:10649807-10649808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529247146	chr9:10649814-10649815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542955120	chr9:10649870-10649871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62537582	chr9:10649873-10649874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74906141	chr9:10649911-10649912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552035913	chr9:10649968-10649969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Renal cell carcinoma	21215367	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10640400-10640800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:10648800-10650000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:10661200-10662200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:10661400-10662400	Enhancers	Fetal Heart	heart
5	chr9:10673800-10675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:10674800-10675200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:10675800-10676000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:10675800-10676000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr9:10676000-10677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:10678400-10679000	Enhancers	NH-A	brain

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