Variant report

Variant	esv3379614
Chromosome Location	chr9:18353302-18355250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536980601	chr9:18353331-18353332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554935441	chr9:18353343-18353344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554725119	chr9:18353359-18353360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543608971	chr9:18353360-18353361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148505990	chr9:18353367-18353368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142843424	chr9:18353389-18353390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369897871	chr9:18353393-18353394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151037553	chr9:18353409-18353410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141073162	chr9:18353429-18353430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529638206	chr9:18353467-18353468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555362977	chr9:18353472-18353473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548488915	chr9:18353489-18353490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563401662	chr9:18353496-18353497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572847227	chr9:18353507-18353508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539858979	chr9:18353576-18353577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573509320	chr9:18353634-18353635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530742167	chr9:18353661-18353662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552040366	chr9:18353860-18353861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570311651	chr9:18353899-18353900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538780956	chr9:18353919-18353920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547462578	chr9:18353922-18353923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56139132	chr9:18353987-18353988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377615874	chr9:18353999-18354000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536215287	chr9:18354001-18354002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374941434	chr9:18354043-18354044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369318387	chr9:18354046-18354047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs33985764	chr9:18354047-18354048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386414574	chr9:18354056-18354057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188145129	chr9:18354062-18354063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71333039	chr9:18354067-18354068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576611545	chr9:18354077-18354078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537745586	chr9:18354177-18354178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559233420	chr9:18354178-18354179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144899377	chr9:18354185-18354186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181006095	chr9:18354205-18354206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186416353	chr9:18354229-18354230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146717428	chr9:18354330-18354331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574389184	chr9:18354343-18354344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541423705	chr9:18354367-18354368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576762894	chr9:18354394-18354395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191359463	chr9:18354440-18354441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556332849	chr9:18354505-18354506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371000830	chr9:18354524-18354525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530761759	chr9:18354553-18354554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373297735	chr9:18354562-18354563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181411363	chr9:18354577-18354578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552045505	chr9:18354628-18354629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563965697	chr9:18354632-18354633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546416114	chr9:18354675-18354676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140358758	chr9:18354690-18354691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18333400-18368200	Weak transcription	Aorta	Aorta
2	chr9:18346600-18362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:18347600-18360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:18348000-18354400	Weak transcription	HSMMtube	muscle
5	chr9:18348200-18357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:18350400-18356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:18351800-18361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:18352000-18358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:18352800-18353400	Enhancers	Fetal Heart	heart
10	chr9:18352800-18353400	Weak transcription	Fetal Kidney	kidney
11	chr9:18353000-18353400	Enhancers	A549	lung
12	chr9:18353400-18353600	Enhancers	Fetal Kidney	kidney

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