Variant report

Variant	nsv892244
Chromosome Location	chr9:8889419-8898464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7844225..7844973-chr9:8895548..8896327,4	MCF-7	breast:
2	chr9:7569880..7570683-chr9:8895710..8896327,2	MCF-7	breast:
3	chr9:8485590..8486306-chr9:8895648..8896453,2	MCF-7	breast:
4	chr9:7569797..7570734-chr9:8895690..8896630,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153707	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511512	chr9:8889419-8889420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183500550	chr9:8889440-8889441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543143849	chr9:8889462-8889463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368823329	chr9:8889523-8889524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77146979	chr9:8889568-8889569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530401754	chr9:8889585-8889586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564984232	chr9:8889592-8889593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550307262	chr9:8889646-8889647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533534373	chr9:8889667-8889668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62529066	chr9:8889727-8889728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188048926	chr9:8889747-8889748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570345897	chr9:8889770-8889771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192858006	chr9:8889776-8889777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144231416	chr9:8889868-8889869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567501560	chr9:8889874-8889875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535026558	chr9:8889924-8889925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112737281	chr9:8889988-8889989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146547616	chr9:8890014-8890015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567344537	chr9:8890054-8890055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538670932	chr9:8890067-8890068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62529067	chr9:8890146-8890147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184466547	chr9:8890149-8890150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547978647	chr9:8890151-8890152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556772435	chr9:8890166-8890167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186754997	chr9:8890190-8890191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141175426	chr9:8890222-8890223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200597419	chr9:8890232-8890233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150223214	chr9:8890278-8890279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117382680	chr9:8890279-8890280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145746646	chr9:8890285-8890286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546727271	chr9:8890290-8890291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34065312	chr9:8890385-8890386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532277294	chr9:8890399-8890400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80233584	chr9:8890434-8890435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371967041	chr9:8890450-8890451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386732392	chr9:8890455-8890456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116122583	chr9:8890456-8890457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558877721	chr9:8890467-8890468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192687605	chr9:8890485-8890486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549369878	chr9:8890505-8890506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184921293	chr9:8890529-8890530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189303622	chr9:8890569-8890570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546617169	chr9:8890576-8890577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148987643	chr9:8890652-8890653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181642329	chr9:8890653-8890654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2890841	chr9:8890725-8890726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143753863	chr9:8890745-8890746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148177337	chr9:8890759-8890760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376768555	chr9:8890784-8890785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144090364	chr9:8890786-8890787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8880000-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:8880200-8891800	Weak transcription	Brain Substantia Nigra	brain
3	chr9:8887200-8890400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:8888200-8890400	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:8888400-8890800	Weak transcription	Dnd41	blood
6	chr9:8888400-8895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8888800-8891600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:8889800-8895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8890400-8890600	Enhancers	Brain Anterior Caudate	brain
10	chr9:8890400-8890600	Enhancers	Brain Hippocampus Middle	brain
11	chr9:8890400-8892200	Enhancers	Brain Cingulate Gyrus	brain
12	chr9:8890600-8891000	Enhancers	Fetal Heart	heart
13	chr9:8890600-8891800	Weak transcription	Brain Anterior Caudate	brain
14	chr9:8890800-8891000	Enhancers	Dnd41	blood
15	chr9:8891000-8895000	Weak transcription	Fetal Heart	heart
16	chr9:8891600-8892000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:8891600-8892000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:8891600-8892000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:8891600-8892200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:8891600-8892200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:8891600-8892400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:8891600-8892400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:8891600-8892400	Enhancers	Brain Angular Gyrus	brain
24	chr9:8891600-8896400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:8891800-8892200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:8891800-8892200	Enhancers	Brain Substantia Nigra	brain
27	chr9:8891800-8892400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:8891800-8892400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:8891800-8892400	Enhancers	Brain Anterior Caudate	brain
30	chr9:8891800-8892400	Enhancers	Brain Hippocampus Middle	brain
31	chr9:8892000-8892200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:8892000-8895200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr9:8892200-8894800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:8892200-8894800	Weak transcription	Brain Substantia Nigra	brain
35	chr9:8892200-8895000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:8892400-8893200	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:8892400-8895000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:8892400-8895000	Weak transcription	Brain Anterior Caudate	brain
39	chr9:8892400-8895600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr9:8892400-8899400	Weak transcription	Brain Angular Gyrus	brain
41	chr9:8893200-8895000	Enhancers	Brain Hippocampus Middle	brain
42	chr9:8894600-8896200	Enhancers	Fetal Lung	lung
43	chr9:8894800-8895800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:8894800-8895800	Enhancers	Fetal Stomach	stomach
45	chr9:8894800-8896000	Enhancers	Brain Substantia Nigra	brain
46	chr9:8895000-8895200	Enhancers	Brain Anterior Caudate	brain
47	chr9:8895000-8895200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr9:8895000-8895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:8895000-8895800	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:8895000-8897600	Enhancers	Fetal Heart	heart

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