Variant report

Variant	nsv523788
Chromosome Location	chr9:7064934-7075305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7070852..7073798-chr9:7075026..7077389,2	MCF-7	breast:
2	chr9:7062837..7065514-chr9:7066672..7068819,2	MCF-7	breast:
3	chr9:7062837..7065514-chr9:7066672..7068819,2	MCF-7	breast:
4	chr9:7074844..7076869-chr9:7078894..7081188,2	K562	blood:
5	chr9:7070852..7073798-chr9:7075026..7077389,2	MCF-7	breast:

Extended variants
information (count: 485 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4742298	chr9:7064934-7064935	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541071612	chr9:7064993-7064994	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116763676	chr9:7065029-7065030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370877246	chr9:7065050-7065051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182033026	chr9:7065056-7065057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76093050	chr9:7065060-7065061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187664536	chr9:7065069-7065070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190901729	chr9:7065124-7065125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542690766	chr9:7065136-7065137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4742299	chr9:7065141-7065142	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs4742300	chr9:7065165-7065166	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs546541772	chr9:7065174-7065175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149807678	chr9:7065197-7065198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147928016	chr9:7065222-7065223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140134748	chr9:7065236-7065237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200829590	chr9:7065264-7065265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553627073	chr9:7065294-7065295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571417871	chr9:7065361-7065362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537124099	chr9:7065394-7065395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181393665	chr9:7065423-7065424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537295510	chr9:7065482-7065483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555496111	chr9:7065491-7065492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567332366	chr9:7065510-7065511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145560377	chr9:7065545-7065546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552978941	chr9:7065554-7065555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577584034	chr9:7065649-7065650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4742301	chr9:7065665-7065666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs185923296	chr9:7065668-7065669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12342913	chr9:7065673-7065674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575745861	chr9:7065719-7065720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535846076	chr9:7065725-7065726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4740868	chr9:7065749-7065750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs561149268	chr9:7065781-7065782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572973314	chr9:7065782-7065783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540343183	chr9:7065805-7065806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189991271	chr9:7065808-7065809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78971659	chr9:7065857-7065858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375057644	chr9:7065867-7065868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143010946	chr9:7065877-7065878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563637253	chr9:7065922-7065923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530838122	chr9:7065970-7065971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573418515	chr9:7065971-7065972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549154517	chr9:7065995-7065996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538000113	chr9:7065996-7065997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543079037	chr9:7066006-7066007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567492677	chr9:7066010-7066011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545630215	chr9:7066011-7066012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114443513	chr9:7066025-7066026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546805184	chr9:7066040-7066041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7873228	chr9:7066054-7066055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7076600	Weak transcription	HSMM	muscle
2	chr9:7009200-7077600	Weak transcription	Osteobl	bone
3	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
4	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
5	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
6	chr9:7017800-7075000	Weak transcription	HepG2	liver
7	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
8	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
9	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
10	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
11	chr9:7029000-7076400	Weak transcription	Ovary	ovary
12	chr9:7029000-7076600	Weak transcription	Lung	lung
13	chr9:7029000-7077400	Weak transcription	Gastric	stomach
14	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:7043000-7069400	Weak transcription	NHDF-Ad	bronchial
17	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:7045400-7077000	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:7045400-7077000	Weak transcription	HMEC	breast
20	chr9:7046400-7077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr9:7049200-7075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:7049400-7076000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:7050000-7076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:7050000-7082200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:7050200-7076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:7050400-7076400	Weak transcription	Dnd41	blood
27	chr9:7051000-7068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:7051800-7076200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:7052000-7074800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:7052000-7075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:7052000-7076400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr9:7052600-7086400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:7053000-7076200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr9:7053000-7076200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr9:7053000-7086600	Weak transcription	Fetal Intestine Large	intestine
37	chr9:7053200-7076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:7053200-7077000	Weak transcription	Brain Angular Gyrus	brain
39	chr9:7053200-7084400	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:7054400-7077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:7055200-7069000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:7055600-7076000	Weak transcription	Left Ventricle	heart
44	chr9:7055600-7076200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:7056200-7074800	Weak transcription	GM12878-XiMat	blood
46	chr9:7056400-7076000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:7057600-7066400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:7058000-7074800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr9:7058400-7076400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:7058400-7076400	Weak transcription	Liver	Liver

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