Variant report

Variant	nsv1020880
Chromosome Location	chr9:7337984-7363648
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	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
2	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:

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

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 932 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10125823	chr9:7337984-7337985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536408835	chr9:7338023-7338024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554412414	chr9:7338081-7338082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565498879	chr9:7338100-7338101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566537469	chr9:7338104-7338105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187284617	chr9:7338122-7338123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533803808	chr9:7338127-7338128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574371472	chr9:7338152-7338153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142446826	chr9:7338162-7338163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144814417	chr9:7338172-7338173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543408051	chr9:7338186-7338187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574973982	chr9:7338190-7338191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542406520	chr9:7338212-7338213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190047081	chr9:7338246-7338247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6477186	chr9:7338263-7338264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs75455200	chr9:7338278-7338279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564163811	chr9:7338279-7338280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141369074	chr9:7338281-7338282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563380566	chr9:7338293-7338294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73410916	chr9:7338301-7338302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529874029	chr9:7338305-7338306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181630324	chr9:7338306-7338307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566511974	chr9:7338307-7338308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12345487	chr9:7338321-7338322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7035555	chr9:7338345-7338346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186360588	chr9:7338350-7338351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190428972	chr9:7338352-7338353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182631590	chr9:7338357-7338358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185437336	chr9:7338401-7338402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12351222	chr9:7338432-7338433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542093776	chr9:7338483-7338484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189753821	chr9:7338492-7338493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7862201	chr9:7338542-7338543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545897703	chr9:7338554-7338555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559708376	chr9:7338562-7338563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60307121	chr9:7338573-7338574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10976253	chr9:7338609-7338610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543387303	chr9:7338610-7338611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562672541	chr9:7338616-7338617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374619765	chr9:7338626-7338627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183961236	chr9:7338629-7338630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548155693	chr9:7338688-7338689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12351335	chr9:7338723-7338724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150788511	chr9:7338724-7338725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75409463	chr9:7338772-7338773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571025135	chr9:7338791-7338792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570558871	chr9:7338800-7338801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77254835	chr9:7338819-7338820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4742328	chr9:7338830-7338831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567930968	chr9:7338847-7338848	Enhancers 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:64 , 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	chr9:7337400-7338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7337400-7341800	Weak transcription	Fetal Lung	lung
4	chr9:7337400-7342200	Weak transcription	Fetal Kidney	kidney
5	chr9:7337400-7342600	Weak transcription	Fetal Stomach	stomach
6	chr9:7337600-7342400	Weak transcription	Fetal Brain Male	brain
7	chr9:7337800-7342200	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:7337800-7342800	Weak transcription	Placenta	Placenta
9	chr9:7338600-7339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:7339000-7342800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:7339800-7340000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:7340000-7341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:7341000-7341200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:7341000-7341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:7341000-7341200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:7341000-7343000	Enhancers	GM12878-XiMat	blood
17	chr9:7341200-7344800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:7341600-7342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:7341800-7342400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:7341800-7343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:7341800-7343200	Enhancers	Fetal Lung	lung
22	chr9:7341800-7343400	Enhancers	Fetal Heart	heart
23	chr9:7342200-7342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:7342200-7343000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:7342200-7343000	Enhancers	Fetal Kidney	kidney
26	chr9:7342200-7343600	Enhancers	Fetal Muscle Leg	muscle
27	chr9:7342400-7343000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:7342400-7343000	Enhancers	Brain Hippocampus Middle	brain
29	chr9:7342400-7343000	Enhancers	Colon Smooth Muscle	Colon
30	chr9:7342400-7343000	Enhancers	Fetal Brain Male	brain
31	chr9:7342400-7343200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr9:7342600-7343000	Enhancers	Fetal Stomach	stomach
33	chr9:7342600-7343200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:7342800-7343000	Enhancers	Placenta	Placenta
35	chr9:7342800-7343200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:7343200-7344600	Weak transcription	Fetal Lung	lung
37	chr9:7344600-7345200	Enhancers	Fetal Lung	lung
38	chr9:7344800-7345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:7344800-7345000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:7345000-7348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:7345000-7349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:7345200-7347600	Weak transcription	Fetal Lung	lung
43	chr9:7347600-7348600	Enhancers	Fetal Lung	lung
44	chr9:7348600-7349200	ZNF genes & repeats	Fetal Lung	lung
45	chr9:7348800-7349200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:7349000-7349200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:7350800-7351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:7358800-7359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:7359000-7363400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:7360400-7361000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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