Variant report

Variant	esv1820605
Chromosome Location	chr9:11624272-11660547
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	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
2	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:

Extended variants
information (count: 349 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564836670	chr9:11625826-11625827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2244547	chr9:11625854-11625855	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538775551	chr9:11625884-11625885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558261283	chr9:11625888-11625889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73643982	chr9:11625890-11625891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574879116	chr9:11625921-11625922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs564924954	chr9:11625933-11625934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554862757	chr9:11625951-11625952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574656107	chr9:11626006-11626007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540702366	chr9:11626030-11626031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376766570	chr9:11626037-11626038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs370900013	chr9:11626039-11626040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374051778	chr9:11626046-11626047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527633996	chr9:11626057-11626058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576922529	chr9:11626077-11626078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546318311	chr9:11626078-11626079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187630507	chr9:11626100-11626101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576386188	chr9:11626101-11626102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1020295	chr9:11626108-11626109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561152486	chr9:11626136-11626137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149000581	chr9:11626148-11626149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77550088	chr9:11626154-11626155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376627024	chr9:11626180-11626181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs368807338	chr9:11626192-11626193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546813606	chr9:11626221-11626222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142109430	chr9:11626226-11626227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7470671	chr9:11626229-11626230	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192890840	chr9:11626272-11626273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373904728	chr9:11626273-11626274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1822391	chr9:11626303-11626304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537860361	chr9:11626382-11626383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547814476	chr9:11626426-11626427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568391180	chr9:11626434-11626435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78483555	chr9:11626437-11626438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs534266997	chr9:11626440-11626441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553937055	chr9:11626442-11626443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577376875	chr9:11626443-11626444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539501066	chr9:11626469-11626470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112565336	chr9:11626495-11626496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61001129	chr9:11626496-11626497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556635619	chr9:11626498-11626499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117006977	chr9:11626521-11626522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185884255	chr9:11626530-11626531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188599862	chr9:11626585-11626586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192738538	chr9:11626586-11626587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139046213	chr9:11626592-11626593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531851482	chr9:11626603-11626604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552592522	chr9:11626630-11626631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560343829	chr9:11626631-11626632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542418866	chr9:11626636-11626637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
abnormal development	18461090	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11625800-11627800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:11631200-11632200	Enhancers	Fetal Brain Male	brain
3	chr9:11631400-11632000	Enhancers	Fetal Brain Female	brain
4	chr9:11632000-11633000	Weak transcription	Fetal Brain Female	brain
5	chr9:11632200-11633200	Weak transcription	Fetal Brain Male	brain
6	chr9:11633000-11633200	Enhancers	Fetal Brain Female	brain
7	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
8	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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