Variant report

Variant	nsv516073
Chromosome Location	chr9:10314941-10333382
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	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
2	chr18:19024164..19025016-chr9:10325801..10326461,2	MCF-7	breast:

Extended variants
information (count: 568 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546332867	chr9:10320410-10320411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79174071	chr9:10320430-10320431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142791365	chr9:10320440-10320441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540723277	chr9:10320472-10320473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552360806	chr9:10320496-10320497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568922344	chr9:10320510-10320511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs645474	chr9:10320549-10320550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150775470	chr9:10320552-10320553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568499144	chr9:10320555-10320556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191321941	chr9:10320562-10320563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577539919	chr9:10320564-10320565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370771231	chr9:10320585-10320586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183076909	chr9:10320586-10320587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117025274	chr9:10320595-10320596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139759258	chr9:10320620-10320621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186911281	chr9:10320630-10320631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556740021	chr9:10320646-10320647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576539441	chr9:10320652-10320653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542152867	chr9:10320689-10320690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562036848	chr9:10320697-10320698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377666944	chr9:10320710-10320711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62538998	chr9:10320767-10320768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149805826	chr9:10320812-10320813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553436302	chr9:10320850-10320851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559856636	chr9:10320864-10320865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191708796	chr9:10320888-10320889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144676984	chr9:10320977-10320978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562728804	chr9:10320981-10320982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574468178	chr9:10320988-10320989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80116000	chr9:10321005-10321006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540263727	chr9:10321016-10321017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370542289	chr9:10321017-10321018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568358167	chr9:10321023-10321024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148517807	chr9:10321081-10321082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547821923	chr9:10321110-10321111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144206242	chr9:10321111-10321112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183230207	chr9:10321124-10321125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560127728	chr9:10321200-10321201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556368548	chr9:10321201-10321202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146621850	chr9:10321208-10321209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535652552	chr9:10321246-10321247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555495732	chr9:10321276-10321277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572418408	chr9:10321336-10321337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528587506	chr9:10321350-10321351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532637754	chr9:10321386-10321387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150335108	chr9:10322205-10322206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529371727	chr9:10322243-10322244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs137987549	chr9:10322338-10322339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565964949	chr9:10322348-10322349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534894814	chr9:10322368-10322369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10320400-10320800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:10320800-10321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:10321000-10321400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:10322200-10323600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:10323600-10330200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:10324400-10326000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:10325000-10325400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:10325000-10325400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:10325000-10325800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:10325000-10325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:10325200-10325800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:10325400-10330800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:10325400-10331200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:10325800-10331200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:10325800-10335800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:10330200-10331600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:10330800-10331400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr9:10330800-10331400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:10330800-10331600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:10330800-10331600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr9:10330800-10332400	Enhancers	Fetal Heart	heart
22	chr9:10331000-10331400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:10331200-10331400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:10331200-10331600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:10331200-10331600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:10331400-10331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:10331400-10333400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:10331600-10332600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:10331600-10338200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:10331600-10338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr9:10332200-10332400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr9:10332400-10333000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:10332600-10333400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:10333000-10333600	Active TSS	Pancreatic Islets	Pancreatic Islet

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