Variant report

Variant	nsv892663
Chromosome Location	chr9:17243746-17329964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
2	chr17:59651978..59652576-chr9:17247861..17248361,2	MCF-7	breast:
3	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BNC2-3	chr9:17322212-17322433	uc_253_-
2	lnc-SH3GL2-3	chr9:17322212-17322433	uc_253_+

Extended variants
information (count: 4485 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:4485 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1582029	chr9:17243746-17243747	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368629322	chr9:17243750-17243751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542915502	chr9:17243779-17243780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550639993	chr9:17243782-17243783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182553678	chr9:17243801-17243802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568619899	chr9:17243835-17243836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531970456	chr9:17243840-17243841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543638904	chr9:17243875-17243876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs565406966	chr9:17243924-17243925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148167690	chr9:17243938-17243939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141028752	chr9:17244103-17244104	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532913388	chr9:17244122-17244123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs72700173	chr9:17244145-17244146	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187252645	chr9:17244152-17244153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549344558	chr9:17244159-17244160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192812938	chr9:17244185-17244186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs114976542	chr9:17244190-17244191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140041786	chr9:17244204-17244205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556066080	chr9:17244209-17244210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201406740	chr9:17244212-17244213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150566437	chr9:17244214-17244215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552264041	chr9:17244216-17244217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs61193447	chr9:17244217-17244218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139280596	chr9:17244314-17244315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538363724	chr9:17244336-17244337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553403087	chr9:17244337-17244338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375549764	chr9:17244354-17244355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs143087820	chr9:17244360-17244361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10962933	chr9:17244494-17244495	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552328916	chr9:17244505-17244506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555275106	chr9:17244569-17244570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567644958	chr9:17244574-17244575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs537896010	chr9:17244592-17244593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs6475122	chr9:17244601-17244602	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566356463	chr9:17244602-17244603	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375955482	chr9:17244609-17244610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs6475123	chr9:17244616-17244617	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs565351607	chr9:17244655-17244656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183715328	chr9:17244705-17244706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs188559705	chr9:17244763-17244764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559885120	chr9:17244785-17244786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530157467	chr9:17244829-17244830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376106472	chr9:17244863-17244864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545591098	chr9:17244882-17244883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114565839	chr9:17244968-17244969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs561266167	chr9:17244969-17244970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535388048	chr9:17244983-17244984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs372896952	chr9:17245002-17245003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147495794	chr9:17245064-17245065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571121034	chr9:17245118-17245119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17207800-17246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:17217600-17247000	Weak transcription	Left Ventricle	heart
3	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:17225400-17246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:17229800-17251600	Weak transcription	HSMM	muscle
6	chr9:17234600-17249400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:17235000-17249600	Weak transcription	Dnd41	blood
8	chr9:17235800-17249400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:17236400-17262000	Weak transcription	Ovary	ovary
10	chr9:17240600-17248400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:17240800-17248600	Weak transcription	NHDF-Ad	bronchial
12	chr9:17241000-17246600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:17241000-17247000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:17241000-17249800	Weak transcription	Fetal Heart	heart
15	chr9:17241200-17249000	Weak transcription	Gastric	stomach
16	chr9:17241400-17249400	Weak transcription	Right Ventricle	heart
17	chr9:17242400-17245000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:17242600-17244200	Weak transcription	Fetal Stomach	stomach
19	chr9:17242600-17244600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr9:17242600-17246600	Weak transcription	Aorta	Aorta
21	chr9:17242600-17247000	Weak transcription	Pancreas	Pancrea
22	chr9:17242800-17244200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:17243000-17246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:17243000-17246200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:17243000-17246600	Weak transcription	Liver	Liver
26	chr9:17243200-17246000	Weak transcription	Fetal Lung	lung
27	chr9:17244200-17244600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr9:17244200-17244600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:17244200-17244600	ZNF genes & repeats	Fetal Stomach	stomach
30	chr9:17244600-17246200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:17244600-17246400	Weak transcription	Fetal Kidney	kidney
32	chr9:17244600-17246400	Weak transcription	Fetal Stomach	stomach
33	chr9:17244600-17247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:17244600-17249600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:17244800-17246600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr9:17244800-17248600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr9:17245600-17246200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:17245600-17248000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr9:17245800-17246000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:17246000-17247600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:17246000-17248400	ZNF genes & repeats	Fetal Lung	lung
42	chr9:17246200-17246400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr9:17246200-17246800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr9:17246200-17247000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:17246400-17247200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:17246400-17247200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:17246400-17247200	Strong transcription	Fetal Kidney	kidney
48	chr9:17246400-17247200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr9:17246400-17247400	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr9:17246400-17247600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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