Variant report

Variant	nsv613257
Chromosome Location	chr9:7015330-7037370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7028131..7030409-chr9:7036098..7038098,2	MCF-7	breast:
2	chr5:35003633..35004245-chr9:7020432..7021432,2	K562	blood:
3	chr9:7028131..7030409-chr9:7036098..7038098,2	MCF-7	breast:

Extended variants
information (count: 1190 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1190 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs818882	chr9:7015330-7015331	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374829200	chr9:7015354-7015355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568983872	chr9:7015374-7015375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542517900	chr9:7015381-7015382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12348962	chr9:7015393-7015394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537935815	chr9:7015394-7015395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572713116	chr9:7015395-7015396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10114556	chr9:7015397-7015398	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112094806	chr9:7015420-7015421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531669717	chr9:7015440-7015441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549900865	chr9:7015443-7015444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529565685	chr9:7015445-7015446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561741465	chr9:7015453-7015454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367723503	chr9:7015461-7015462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375334310	chr9:7015472-7015473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529284846	chr9:7015475-7015476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34539168	chr9:7015479-7015480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547405437	chr9:7015514-7015515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566629326	chr9:7015520-7015521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4742282	chr9:7015545-7015546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs552046357	chr9:7015547-7015548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77597918	chr9:7015565-7015566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540604270	chr9:7015701-7015702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537937405	chr9:7015702-7015703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556322826	chr9:7015759-7015760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568046064	chr9:7015791-7015792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74622166	chr9:7015793-7015794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553751764	chr9:7015797-7015798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376394585	chr9:7015799-7015800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369998448	chr9:7015812-7015813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377406476	chr9:7015826-7015827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572601848	chr9:7015836-7015837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370153382	chr9:7015868-7015869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374108085	chr9:7015869-7015870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143113009	chr9:7015896-7015897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189536647	chr9:7015903-7015904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577091363	chr9:7015919-7015920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367991737	chr9:7015936-7015937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372073628	chr9:7015941-7015942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375104117	chr9:7015942-7015943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368234970	chr9:7015967-7015968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372291576	chr9:7015976-7015977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375281936	chr9:7015978-7015979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs818883	chr9:7016001-7016002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543497488	chr9:7016010-7016011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545988228	chr9:7016025-7016026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561815190	chr9:7016080-7016081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529371774	chr9:7016088-7016089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540983343	chr9:7016101-7016102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181804222	chr9:7016106-7016107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6979800-7018600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:6984000-7018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:6985600-7019200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:6985600-7035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:6986800-7015600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:7007800-7019000	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr9:7008000-7018800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr9:7008000-7018800	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:7008600-7016000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:7008800-7017000	Weak transcription	NHLF	lung
11	chr9:7008800-7024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:7009000-7015800	Weak transcription	Gastric	stomach
13	chr9:7009000-7017400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:7009000-7018000	Weak transcription	Lung	lung
15	chr9:7009000-7019000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr9:7009000-7019800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:7009000-7021600	Weak transcription	HMEC	breast
18	chr9:7009000-7026200	Weak transcription	A549	lung
19	chr9:7009000-7027400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr9:7009000-7027800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:7009000-7027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:7009000-7028400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:7009000-7030400	Weak transcription	NHEK	skin
24	chr9:7009000-7044800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:7009000-7046200	Weak transcription	Small Intestine	intestine
26	chr9:7009000-7055200	Weak transcription	K562	blood
27	chr9:7009000-7056400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:7009000-7076600	Weak transcription	HSMM	muscle
29	chr9:7009200-7016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:7009200-7017400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:7009200-7077600	Weak transcription	Osteobl	bone
32	chr9:7009400-7016400	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:7009400-7016800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:7009400-7019200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr9:7009400-7029600	Weak transcription	Hela-S3	cervix
36	chr9:7009400-7042000	Weak transcription	NHDF-Ad	bronchial
37	chr9:7009600-7020400	Strong transcription	Primary B cells from cord blood	blood
38	chr9:7009800-7018000	Weak transcription	Fetal Brain Female	brain
39	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
40	chr9:7010400-7020600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr9:7010600-7016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:7011000-7021000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr9:7011200-7019600	Strong transcription	Liver	Liver
44	chr9:7011400-7016000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:7011400-7018800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr9:7011400-7019400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr9:7011400-7020600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr9:7011600-7017200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr9:7011600-7019600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:7011600-7019800	Strong transcription	Primary monocytes fromperipheralblood	blood

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