Variant report

Variant	nsv466119
Chromosome Location	chr9:7339425-7363648
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	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:
2	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
2	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
3	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 850 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:850 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1926381	chr9:7339425-7339426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572354930	chr9:7339426-7339427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546086509	chr9:7339446-7339447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576964502	chr9:7339469-7339470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183922027	chr9:7339488-7339489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188269493	chr9:7339519-7339520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191173118	chr9:7339526-7339527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185587682	chr9:7339533-7339534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528932533	chr9:7339538-7339539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547057900	chr9:7339551-7339552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546464505	chr9:7339565-7339566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536768345	chr9:7339579-7339580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551611002	chr9:7339602-7339603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569922496	chr9:7339697-7339698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537237857	chr9:7339808-7339809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555874650	chr9:7339835-7339836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139696145	chr9:7339836-7339837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190441640	chr9:7339839-7339840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535052177	chr9:7339886-7339887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142952787	chr9:7339906-7339907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553420041	chr9:7339919-7339920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147457044	chr9:7339953-7339954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182092798	chr9:7339968-7339969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558045651	chr9:7340006-7340007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559679568	chr9:7340046-7340047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576230453	chr9:7340056-7340057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572930753	chr9:7340058-7340059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543251748	chr9:7340067-7340068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561851336	chr9:7340087-7340088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376611345	chr9:7340094-7340095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540694673	chr9:7340107-7340108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528813791	chr9:7340114-7340115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7039976	chr9:7340153-7340154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187132710	chr9:7340167-7340168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73640209	chr9:7340178-7340179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551696187	chr9:7340195-7340196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76135211	chr9:7340204-7340205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531162013	chr9:7340270-7340271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113143600	chr9:7340316-7340317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189001362	chr9:7340326-7340327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28657423	chr9:7340335-7340336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181356741	chr9:7340374-7340375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112921790	chr9:7340404-7340405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79375298	chr9:7340413-7340414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201141393	chr9:7340418-7340419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558133425	chr9:7340445-7340446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576238295	chr9:7340471-7340472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144352977	chr9:7340517-7340518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2381590	chr9:7340534-7340535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376907189	chr9:7340561-7340562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	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
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7328600-7342200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:7337400-7341800	Weak transcription	Fetal Lung	lung
3	chr9:7337400-7342200	Weak transcription	Fetal Kidney	kidney
4	chr9:7337400-7342600	Weak transcription	Fetal Stomach	stomach
5	chr9:7337600-7342400	Weak transcription	Fetal Brain Male	brain
6	chr9:7337800-7342200	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:7337800-7342800	Weak transcription	Placenta	Placenta
8	chr9:7339000-7342800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:7339800-7340000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:7340000-7341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:7341000-7341200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:7341000-7341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:7341000-7341200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:7341000-7343000	Enhancers	GM12878-XiMat	blood
15	chr9:7341200-7344800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:7341600-7342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:7341800-7342400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:7341800-7343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:7341800-7343200	Enhancers	Fetal Lung	lung
20	chr9:7341800-7343400	Enhancers	Fetal Heart	heart
21	chr9:7342200-7342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:7342200-7343000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:7342200-7343000	Enhancers	Fetal Kidney	kidney
24	chr9:7342200-7343600	Enhancers	Fetal Muscle Leg	muscle
25	chr9:7342400-7343000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:7342400-7343000	Enhancers	Brain Hippocampus Middle	brain
27	chr9:7342400-7343000	Enhancers	Colon Smooth Muscle	Colon
28	chr9:7342400-7343000	Enhancers	Fetal Brain Male	brain
29	chr9:7342400-7343200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:7342600-7343000	Enhancers	Fetal Stomach	stomach
31	chr9:7342600-7343200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:7342800-7343000	Enhancers	Placenta	Placenta
33	chr9:7342800-7343200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:7343200-7344600	Weak transcription	Fetal Lung	lung
35	chr9:7344600-7345200	Enhancers	Fetal Lung	lung
36	chr9:7344800-7345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:7344800-7345000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:7345000-7348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:7345000-7349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:7345200-7347600	Weak transcription	Fetal Lung	lung
41	chr9:7347600-7348600	Enhancers	Fetal Lung	lung
42	chr9:7348600-7349200	ZNF genes & repeats	Fetal Lung	lung
43	chr9:7348800-7349200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:7349000-7349200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:7350800-7351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:7358800-7359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:7359000-7363400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:7360400-7361000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:7361000-7364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:7361400-7362000	Enhancers	Placenta	Placenta

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