Variant report

Variant	nsv1034097
Chromosome Location	chr9:7345375-7405366
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
2	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
3	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
4	chr9:7401862..7402674-chr9:7479089..7479897,2	MCF-7	breast:
5	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:
6	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
7	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
8	chr9:7401751..7402674-chr9:7535710..7536817,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 2822 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2822 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10815599	chr9:7345375-7345376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182719781	chr9:7345413-7345414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561427335	chr9:7345420-7345421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6477189	chr9:7345451-7345452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187352635	chr9:7345453-7345454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117182769	chr9:7345471-7345472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532520992	chr9:7345495-7345496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112454481	chr9:7345524-7345525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573104894	chr9:7345549-7345550	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs375832241	chr9:7345551-7345552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565716680	chr9:7345580-7345581	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550037977	chr9:7345592-7345593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191583938	chr9:7345596-7345597	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569925992	chr9:7345605-7345606	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs182919669	chr9:7345662-7345663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369132661	chr9:7345669-7345670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558726299	chr9:7345772-7345773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555147377	chr9:7345781-7345782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187970016	chr9:7345791-7345792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140761666	chr9:7345855-7345856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192202625	chr9:7345863-7345864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57823893	chr9:7345866-7345867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113610925	chr9:7345923-7345924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142118285	chr9:7345929-7345930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151156539	chr9:7345937-7345938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10511465	chr9:7346029-7346030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140195166	chr9:7346030-7346031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111926009	chr9:7346031-7346032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150361110	chr9:7346061-7346062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12686861	chr9:7346110-7346111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532445187	chr9:7346112-7346113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550964809	chr9:7346159-7346160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112191611	chr9:7346212-7346213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9299045	chr9:7346263-7346264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530737354	chr9:7346293-7346294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10113894	chr9:7346296-7346297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11999180	chr9:7346315-7346316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534489959	chr9:7346335-7346336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543749275	chr9:7346352-7346353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138028249	chr9:7346363-7346364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11999183	chr9:7346370-7346371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538314808	chr9:7346396-7346397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77442899	chr9:7346397-7346398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575101504	chr9:7346416-7346417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543357191	chr9:7346436-7346437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555283841	chr9:7346459-7346460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534788575	chr9:7346461-7346462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540824353	chr9:7346519-7346520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142305189	chr9:7346543-7346544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76540965	chr9:7346557-7346558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7345000-7348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:7345000-7349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:7345200-7347600	Weak transcription	Fetal Lung	lung
4	chr9:7347600-7348600	Enhancers	Fetal Lung	lung
5	chr9:7348600-7349200	ZNF genes & repeats	Fetal Lung	lung
6	chr9:7348800-7349200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:7349000-7349200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:7350800-7351400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:7358800-7359000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:7359000-7363400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:7360400-7361000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:7361000-7364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:7361400-7362000	Enhancers	Placenta	Placenta
14	chr9:7361800-7362800	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:7362000-7369000	Weak transcription	Placenta	Placenta
16	chr9:7362600-7364200	Enhancers	Brain Germinal Matrix	brain
17	chr9:7362800-7364800	Enhancers	Fetal Muscle Leg	muscle
18	chr9:7363000-7364400	Enhancers	Fetal Lung	lung
19	chr9:7363200-7364400	Enhancers	Fetal Kidney	kidney
20	chr9:7363200-7365200	Enhancers	Liver	Liver
21	chr9:7363400-7363600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:7363400-7364400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:7363400-7364600	Enhancers	Fetal Intestine Small	intestine
24	chr9:7363600-7364000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:7363600-7364800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:7363800-7364800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:7363800-7364800	Enhancers	Fetal Heart	heart
28	chr9:7364000-7364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:7364000-7364400	Enhancers	Ovary	ovary
30	chr9:7364000-7364800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:7364200-7364400	Enhancers	Left Ventricle	heart
32	chr9:7364200-7364800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:7364400-7364800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr9:7364400-7364800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:7364400-7364800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:7364400-7364800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:7364400-7365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:7364400-7367600	Weak transcription	Fetal Lung	lung
39	chr9:7364400-7368600	Weak transcription	Left Ventricle	heart
40	chr9:7364400-7374400	Weak transcription	Fetal Kidney	kidney
41	chr9:7364400-7377000	Weak transcription	Ovary	ovary
42	chr9:7364800-7365400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:7364800-7366000	Weak transcription	Fetal Heart	heart
44	chr9:7364800-7366200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:7364800-7368400	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:7364800-7371000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:7365200-7367800	Weak transcription	Liver	Liver
48	chr9:7365800-7367000	Enhancers	HSMMtube	muscle
49	chr9:7366000-7366200	Enhancers	HSMM	muscle
50	chr9:7366000-7366600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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