Variant report

Variant	esv18755
Chromosome Location	chr9:11630285-11682559
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: 221 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149325794	chr9:11631201-11631202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75739917	chr9:11631213-11631214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537239833	chr9:11631222-11631223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144581125	chr9:11631251-11631252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573966961	chr9:11631257-11631258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534062970	chr9:11631285-11631286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148460764	chr9:11631293-11631294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75705769	chr9:11631299-11631300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73397505	chr9:11631302-11631303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142630916	chr9:11631319-11631320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187547348	chr9:11631345-11631346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541533705	chr9:11631348-11631349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373851095	chr9:11631396-11631397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571962609	chr9:11631414-11631415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541056034	chr9:11631453-11631454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191314451	chr9:11631454-11631455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543627587	chr9:11631462-11631463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573658539	chr9:11631463-11631464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368131854	chr9:11631476-11631477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147610590	chr9:11631495-11631496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550389548	chr9:11631512-11631513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542679137	chr9:11631519-11631520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182423753	chr9:11631531-11631532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529362671	chr9:11631541-11631542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549523401	chr9:11631547-11631548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566027642	chr9:11631582-11631583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140020997	chr9:11631604-11631605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551778810	chr9:11631609-11631610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570650646	chr9:11631665-11631666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553022097	chr9:11631706-11631707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28594665	chr9:11631712-11631713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555899342	chr9:11631740-11631741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28546126	chr9:11631762-11631763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113618804	chr9:11631796-11631797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555154074	chr9:11631803-11631804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572135243	chr9:11631810-11631811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540668930	chr9:11631820-11631821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557776434	chr9:11631824-11631825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538339417	chr9:11631837-11631838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578240267	chr9:11631849-11631850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192763537	chr9:11631852-11631853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559146689	chr9:11631861-11631862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563847535	chr9:11631862-11631863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529523393	chr9:11631883-11631884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73643983	chr9:11631911-11631912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368592745	chr9:11631923-11631924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369039454	chr9:11631931-11631932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559569333	chr9:11631936-11631937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527578931	chr9:11632019-11632020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528631463	chr9:11632029-11632030	Enhancers Weak transcription	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11631200-11632200	Enhancers	Fetal Brain Male	brain
2	chr9:11631400-11632000	Enhancers	Fetal Brain Female	brain
3	chr9:11632000-11633000	Weak transcription	Fetal Brain Female	brain
4	chr9:11632200-11633200	Weak transcription	Fetal Brain Male	brain
5	chr9:11633000-11633200	Enhancers	Fetal Brain Female	brain
6	chr9:11633200-11633600	Enhancers	Fetal Brain Male	brain
7	chr9:11650200-11650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:11656000-11656800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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