Variant report

Variant	nsv892665
Chromosome Location	chr9:17250170-17371690
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	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
2	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: 6180 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6180 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6475125	chr9:17250170-17250171	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187758929	chr9:17250284-17250285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559671675	chr9:17250322-17250323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547133081	chr9:17250355-17250356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560149819	chr9:17250364-17250365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111401911	chr9:17250368-17250369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147959481	chr9:17250455-17250456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141704761	chr9:17250472-17250473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191117394	chr9:17250479-17250480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183587954	chr9:17250480-17250481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201267902	chr9:17250524-17250525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373077278	chr9:17250530-17250531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542775090	chr9:17250582-17250583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10962946	chr9:17250616-17250617	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147094563	chr9:17250625-17250626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553364459	chr9:17250694-17250695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571964324	chr9:17250731-17250732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7030067	chr9:17250736-17250737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536546221	chr9:17250761-17250762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555238456	chr9:17250768-17250769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192873943	chr9:17250809-17250810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544014744	chr9:17250833-17250834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371317599	chr9:17250898-17250899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7046327	chr9:17250916-17250917	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531564739	chr9:17250919-17250920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115442295	chr9:17250927-17250928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541503938	chr9:17250933-17250934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373322678	chr9:17250957-17250958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559498741	chr9:17250962-17250963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530058523	chr9:17251016-17251017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550097634	chr9:17251027-17251028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367956598	chr9:17251044-17251045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12238680	chr9:17251071-17251072	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561229010	chr9:17251082-17251083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147685059	chr9:17251088-17251089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184925840	chr9:17251112-17251113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149161197	chr9:17251275-17251276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115100638	chr9:17251286-17251287	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190115357	chr9:17251335-17251336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386733194	chr9:17251384-17251385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113930153	chr9:17251385-17251386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1576962	chr9:17251386-17251387	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs181671623	chr9:17251420-17251421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115631378	chr9:17251458-17251459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143313150	chr9:17251474-17251475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559210718	chr9:17251576-17251577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148295995	chr9:17251585-17251586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564716330	chr9:17251593-17251594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541541113	chr9:17251611-17251612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139876053	chr9:17251645-17251646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Medulloblastoma	21163964	CNVD

Chromatin state (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:17229800-17251600	Weak transcription	HSMM	muscle
3	chr9:17236400-17262000	Weak transcription	Ovary	ovary
4	chr9:17247200-17251000	Weak transcription	Fetal Kidney	kidney
5	chr9:17247400-17269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:17248000-17250800	Weak transcription	Left Ventricle	heart
7	chr9:17249600-17250200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr9:17249600-17250200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:17249600-17252000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:17249600-17252400	ZNF genes & repeats	Liver	Liver
11	chr9:17249600-17252400	ZNF genes & repeats	Fetal Lung	lung
12	chr9:17249600-17253000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr9:17249600-17254600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:17250800-17251800	ZNF genes & repeats	Dnd41	blood
15	chr9:17250800-17252600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:17250800-17252600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr9:17251000-17252200	ZNF genes & repeats	Fetal Kidney	kidney
18	chr9:17251800-17252000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr9:17252000-17252600	ZNF genes & repeats	A549	lung
20	chr9:17252000-17255000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:17252200-17252600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:17252800-17254400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr9:17255000-17255600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:17255000-17255600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:17255000-17255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:17256600-17256800	Weak transcription	Liver	Liver
27	chr9:17257800-17261800	Weak transcription	Liver	Liver
28	chr9:17259200-17262800	Weak transcription	Fetal Brain Male	brain
29	chr9:17260600-17269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:17260800-17262200	Weak transcription	Left Ventricle	heart
31	chr9:17261600-17262200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr9:17261600-17262800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:17261600-17262800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:17261800-17262600	ZNF genes & repeats	Liver	Liver
35	chr9:17261800-17262800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr9:17262000-17262400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr9:17262000-17262800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr9:17262000-17262800	ZNF genes & repeats	Fetal Lung	lung
39	chr9:17262000-17262800	ZNF genes & repeats	Ovary	ovary
40	chr9:17262400-17262800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:17262400-17262800	ZNF genes & repeats	Left Ventricle	heart
42	chr9:17262400-17263000	ZNF genes & repeats	Dnd41	blood
43	chr9:17262600-17263400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:17262600-17280400	Weak transcription	Liver	Liver
45	chr9:17262800-17263000	Active TSS	Fetal Brain Male	brain
46	chr9:17262800-17264600	Weak transcription	Fetal Lung	lung
47	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart
48	chr9:17263000-17263400	Weak transcription	Dnd41	blood
49	chr9:17268000-17268200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr9:17268200-17269200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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