Variant report

Variant	esv3380216
Chromosome Location	chr9:18209502-18211550
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	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571364817	chr9:18209523-18209524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538769500	chr9:18209548-18209549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186001988	chr9:18209582-18209583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36091433	chr9:18209634-18209635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536065692	chr9:18209656-18209657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75697800	chr9:18209697-18209698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78749581	chr9:18209702-18209703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189202029	chr9:18209712-18209713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181648030	chr9:18209819-18209820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146455007	chr9:18209836-18209837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558207198	chr9:18209868-18209869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543243323	chr9:18209901-18209902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187070613	chr9:18209905-18209906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192308622	chr9:18209908-18209909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545130316	chr9:18209918-18209919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560227063	chr9:18209932-18209933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180826132	chr9:18209933-18209934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80244227	chr9:18209940-18209941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36084847	chr9:18209954-18209955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143037072	chr9:18210032-18210033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186278385	chr9:18210055-18210056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200834274	chr9:18210100-18210101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537752406	chr9:18210120-18210121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571906006	chr9:18210128-18210129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539252262	chr9:18210129-18210130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547488020	chr9:18210195-18210196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151112956	chr9:18210202-18210203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201498636	chr9:18210220-18210221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370215366	chr9:18210327-18210328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35770751	chr9:18210371-18210372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372999734	chr9:18210381-18210382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190026381	chr9:18210386-18210387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13288009	chr9:18210387-18210388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11398015	chr9:18210402-18210403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397816442	chr9:18210403-18210404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34137984	chr9:18210406-18210407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567195330	chr9:18210428-18210429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537379570	chr9:18210447-18210448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558313799	chr9:18210452-18210453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112659323	chr9:18210457-18210458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12235364	chr9:18210471-18210472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113415037	chr9:18210477-18210478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10963521	chr9:18210479-18210480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113184749	chr9:18210490-18210491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540846535	chr9:18210505-18210506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199746817	chr9:18210518-18210519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182657245	chr9:18210533-18210534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116962622	chr9:18210563-18210564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187077484	chr9:18210568-18210569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72684911	chr9:18210586-18210587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18208400-18210200	Enhancers	Fetal Intestine Large	intestine
2	chr9:18208800-18209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:18208800-18209800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:18209000-18210000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:18209200-18210000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr9:18209200-18210000	Weak transcription	Fetal Intestine Small	intestine
7	chr9:18209600-18210200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:18209800-18210000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr9:18210000-18210200	Enhancers	Fetal Intestine Small	intestine
10	chr9:18210000-18210200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:18210200-18213000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:18210200-18213200	Weak transcription	Fetal Intestine Small	intestine

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