Variant report

Variant	nsv892645
Chromosome Location	chr9:16292669-16368732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16309575..16311117-chr9:16313387..16315896,2	MCF-7	breast:
2	chr9:16336237..16337820-chr9:16344660..16346566,2	MCF-7	breast:
3	chr9:16336237..16337820-chr9:16344660..16346566,2	MCF-7	breast:
4	chr9:16335793..16338502-chr9:16339081..16341831,2	MCF-7	breast:
5	chr9:16335793..16338502-chr9:16339081..16341831,2	MCF-7	breast:
6	chr9:16309575..16311117-chr9:16313387..16315896,2	MCF-7	breast:

Extended variants
information (count: 3723 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3723 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1360549	chr9:16292669-16292670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574398640	chr9:16292680-16292681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535523812	chr9:16292715-16292716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533277068	chr9:16292742-16292743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145941645	chr9:16292759-16292760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575429498	chr9:16292788-16292789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546388740	chr9:16292790-16292791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183879624	chr9:16292812-16292813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569735600	chr9:16292830-16292831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540576597	chr9:16292873-16292874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540608498	chr9:16292931-16292932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369848985	chr9:16292938-16292939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562109259	chr9:16292954-16292955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139786764	chr9:16292955-16292956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200633469	chr9:16293032-16293033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550644851	chr9:16293071-16293072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143289179	chr9:16293081-16293082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151160306	chr9:16293100-16293101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188111444	chr9:16293108-16293109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386733087	chr9:16293109-16293110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1332484	chr9:16293110-16293111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534915853	chr9:16293116-16293117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115914091	chr9:16293117-16293118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369089167	chr9:16293130-16293131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373014181	chr9:16293145-16293146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568049873	chr9:16293166-16293167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9407737	chr9:16293167-16293168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560388780	chr9:16293175-16293176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73409262	chr9:16293182-16293183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539165508	chr9:16293193-16293194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558319069	chr9:16293195-16293196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80353623	chr9:16293235-16293236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540898442	chr9:16293276-16293277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62551100	chr9:16293286-16293287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73645938	chr9:16293318-16293319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9407738	chr9:16293324-16293325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192556850	chr9:16293362-16293363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533242862	chr9:16293402-16293403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545219210	chr9:16293403-16293404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564285655	chr9:16293405-16293406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528311603	chr9:16293460-16293461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184890401	chr9:16293471-16293472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567758481	chr9:16293493-16293494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568337545	chr9:16293565-16293566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10962368	chr9:16293566-16293567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117264944	chr9:16293573-16293574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568910028	chr9:16293576-16293577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539514427	chr9:16293637-16293638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557594539	chr9:16293654-16293655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544144506	chr9:16293674-16293675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16290000-16293400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:16290200-16293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:16290200-16293400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:16290600-16294600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:16292400-16293600	Weak transcription	Aorta	Aorta
6	chr9:16293200-16295000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:16293400-16294000	Enhancers	Osteobl	bone
8	chr9:16293400-16295000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:16293400-16295000	Enhancers	Adipose Nuclei	Adipose
10	chr9:16293400-16295200	Enhancers	Fetal Stomach	stomach
11	chr9:16293600-16293800	Enhancers	Aorta	Aorta
12	chr9:16293600-16294800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:16293600-16295400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:16293800-16294000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:16293800-16294200	Weak transcription	Aorta	Aorta
16	chr9:16294000-16294200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr9:16294000-16294400	Weak transcription	Osteobl	bone
18	chr9:16294000-16294800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr9:16294000-16295200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr9:16294200-16294600	Enhancers	Aorta	Aorta
21	chr9:16294200-16294800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:16294200-16295000	Enhancers	HSMM	muscle
23	chr9:16294200-16295000	Enhancers	HSMMtube	muscle
24	chr9:16294200-16295200	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:16294400-16294600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:16294400-16294800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:16294400-16294800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:16294400-16294800	Enhancers	Brain Germinal Matrix	brain
29	chr9:16294400-16295000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:16294400-16295200	Enhancers	Osteobl	bone
31	chr9:16294600-16294800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr9:16294600-16295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:16294600-16295000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:16294600-16295000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:16294600-16295000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:16294600-16295000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:16294600-16295200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:16294800-16295400	Enhancers	Fetal Muscle Trunk	muscle
39	chr9:16297800-16298800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:16301400-16302000	Enhancers	Fetal Lung	lung
41	chr9:16302600-16305400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:16302800-16304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:16303000-16305400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:16303200-16304000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:16303400-16305000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:16303600-16303800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:16303600-16304200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:16303600-16304400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:16303600-16305600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:16303600-16305600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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