Variant report

Variant	nsv892196
Chromosome Location	chr9:7335949-7366297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

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:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
2	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640
3	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
4	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 1229 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs731253	chr9:7335949-7335950	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186941690	chr9:7335975-7335976	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs138043683	chr9:7335976-7335977	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs572346978	chr9:7335980-7335981	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545412507	chr9:7336061-7336062	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs118086402	chr9:7336095-7336096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142510035	chr9:7336099-7336100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546739233	chr9:7336124-7336125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561937455	chr9:7336145-7336146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112313757	chr9:7336146-7336147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555827196	chr9:7336155-7336156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547477150	chr9:7336156-7336157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191781325	chr9:7336159-7336160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532988279	chr9:7336170-7336171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550939284	chr9:7336190-7336191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570048821	chr9:7336204-7336205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539031514	chr9:7336220-7336221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537362476	chr9:7336231-7336232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549236566	chr9:7336232-7336233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183121589	chr9:7336234-7336235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374431346	chr9:7336236-7336237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553472375	chr9:7336268-7336269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571647948	chr9:7336275-7336276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539066028	chr9:7336286-7336287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557379783	chr9:7336311-7336312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575677500	chr9:7336318-7336319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543764511	chr9:7336328-7336329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551326715	chr9:7336338-7336339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555331056	chr9:7336341-7336342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573819054	chr9:7336349-7336350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188121822	chr9:7336358-7336359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570600473	chr9:7336362-7336363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370050033	chr9:7336363-7336364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559426454	chr9:7336374-7336375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67915175	chr9:7336376-7336377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2004143	chr9:7336378-7336379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200267261	chr9:7336380-7336381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10976249	chr9:7336415-7336416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373296288	chr9:7336423-7336424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386732221	chr9:7336431-7336432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113904414	chr9:7336432-7336433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12347615	chr9:7336443-7336444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs10976250	chr9:7336458-7336459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10976251	chr9:7336468-7336469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558392586	chr9:7336475-7336476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186781751	chr9:7336479-7336480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528731938	chr9:7336492-7336493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10976252	chr9:7336493-7336494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546859503	chr9:7336498-7336499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571750232	chr9:7336516-7336517	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:100 , 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	chr9:7336400-7337400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:7336400-7337800	Enhancers	Placenta	Placenta
4	chr9:7336600-7337400	Enhancers	Fetal Lung	lung
5	chr9:7336800-7337400	Enhancers	Fetal Stomach	stomach
6	chr9:7336800-7337600	Enhancers	Fetal Brain Male	brain
7	chr9:7336800-7337800	Enhancers	Fetal Muscle Leg	muscle
8	chr9:7337000-7337400	Enhancers	Fetal Kidney	kidney
9	chr9:7337400-7338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:7337400-7341800	Weak transcription	Fetal Lung	lung
11	chr9:7337400-7342200	Weak transcription	Fetal Kidney	kidney
12	chr9:7337400-7342600	Weak transcription	Fetal Stomach	stomach
13	chr9:7337600-7342400	Weak transcription	Fetal Brain Male	brain
14	chr9:7337800-7342200	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:7337800-7342800	Weak transcription	Placenta	Placenta
16	chr9:7338600-7339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:7339000-7342800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:7339800-7340000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:7340000-7341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:7341000-7341200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:7341000-7341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:7341000-7341200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:7341000-7343000	Enhancers	GM12878-XiMat	blood
24	chr9:7341200-7344800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:7341600-7342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:7341800-7342400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr9:7341800-7343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:7341800-7343200	Enhancers	Fetal Lung	lung
29	chr9:7341800-7343400	Enhancers	Fetal Heart	heart
30	chr9:7342200-7342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:7342200-7343000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:7342200-7343000	Enhancers	Fetal Kidney	kidney
33	chr9:7342200-7343600	Enhancers	Fetal Muscle Leg	muscle
34	chr9:7342400-7343000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:7342400-7343000	Enhancers	Brain Hippocampus Middle	brain
36	chr9:7342400-7343000	Enhancers	Colon Smooth Muscle	Colon
37	chr9:7342400-7343000	Enhancers	Fetal Brain Male	brain
38	chr9:7342400-7343200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:7342600-7343000	Enhancers	Fetal Stomach	stomach
40	chr9:7342600-7343200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:7342800-7343000	Enhancers	Placenta	Placenta
42	chr9:7342800-7343200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:7343200-7344600	Weak transcription	Fetal Lung	lung
44	chr9:7344600-7345200	Enhancers	Fetal Lung	lung
45	chr9:7344800-7345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:7344800-7345000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:7345000-7348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:7345000-7349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:7345200-7347600	Weak transcription	Fetal Lung	lung
50	chr9:7347600-7348600	Enhancers	Fetal Lung	lung

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