Variant report

Variant	nsv442136
Chromosome Location	chr9:16071336-16074727
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	chr9:16074686..16077163-chr9:16077255..16078933,2	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10118827	chr9:16071340-16071341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561346462	chr9:16071347-16071348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140380458	chr9:16071377-16071378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17784215	chr9:16071410-16071411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10118850	chr9:16071439-16071440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75387523	chr9:16071446-16071447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531117743	chr9:16071454-16071455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543194679	chr9:16071507-16071508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375345293	chr9:16071519-16071520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564991451	chr9:16071533-16071534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374498603	chr9:16071553-16071554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115025456	chr9:16071572-16071573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547427194	chr9:16071611-16071612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565648677	chr9:16071623-16071624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116195093	chr9:16071651-16071652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527510210	chr9:16071663-16071664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569788808	chr9:16071731-16071732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537505977	chr9:16071795-16071796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537245606	chr9:16071805-16071806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189937607	chr9:16071833-16071834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369450057	chr9:16071885-16071886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534758941	chr9:16071954-16071955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542829607	chr9:16071957-16071958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574470463	chr9:16072012-16072013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142501525	chr9:16072029-16072030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557223971	chr9:16072072-16072073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117692300	chr9:16072135-16072136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546383596	chr9:16072170-16072171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564484126	chr9:16072187-16072188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180683520	chr9:16072238-16072239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552303361	chr9:16072244-16072245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533762265	chr9:16072294-16072295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553738026	chr9:16072305-16072306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143951464	chr9:16072330-16072331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79949606	chr9:16072364-16072365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573566958	chr9:16072376-16072377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148148107	chr9:16072423-16072424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545662669	chr9:16072477-16072478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548548623	chr9:16072485-16072486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563600338	chr9:16072496-16072497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368259606	chr9:16072508-16072509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187219176	chr9:16072529-16072530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552362966	chr9:16072566-16072567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570525905	chr9:16072598-16072599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534819624	chr9:16072646-16072647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546674276	chr9:16072661-16072662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568156879	chr9:16072665-16072666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141938517	chr9:16072666-16072667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559148370	chr9:16072686-16072687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575904357	chr9:16072712-16072713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16048600-16071400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:16068600-16072000	Enhancers	Fetal Muscle Leg	muscle
3	chr9:16069200-16071400	Enhancers	Fetal Kidney	kidney
4	chr9:16069400-16071600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:16069400-16071600	Enhancers	Fetal Thymus	thymus
6	chr9:16069600-16071400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:16070200-16074800	Weak transcription	Ovary	ovary
8	chr9:16070600-16074800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:16071000-16074600	Weak transcription	Osteobl	bone
10	chr9:16071200-16071600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:16071200-16071600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:16071200-16072400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:16071200-16074800	Weak transcription	NH-A	brain
14	chr9:16074600-16076200	Enhancers	Osteobl	bone

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