Variant report

Variant	nsv892207
Chromosome Location	chr9:7658953-7742476
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	chr9:7740039..7741870-chr9:7890019..7892015,2	K562	blood:
2	chr9:7705498..7708258-chr9:7798756..7800943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137038	chromatin interactions

Extended variants
information (count: 2357 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2357 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2930732	chr9:7658953-7658954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190756785	chr9:7658962-7658963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112565495	chr9:7658963-7658964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529398662	chr9:7658968-7658969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375634386	chr9:7658997-7658998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74437663	chr9:7659000-7659001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183180833	chr9:7659018-7659019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10976480	chr9:7659024-7659025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540146985	chr9:7659040-7659041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551065469	chr9:7659046-7659047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373168103	chr9:7659086-7659087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569665599	chr9:7659100-7659101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140008741	chr9:7659111-7659112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2046425	chr9:7659117-7659118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544825146	chr9:7659155-7659156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185965239	chr9:7659193-7659194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143912977	chr9:7659227-7659228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73404485	chr9:7659229-7659230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150677939	chr9:7659238-7659239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2046426	chr9:7659367-7659368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545320431	chr9:7659386-7659387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190475034	chr9:7659461-7659462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576075472	chr9:7659468-7659469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139838407	chr9:7659529-7659530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2930733	chr9:7659530-7659531	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145766787	chr9:7659565-7659566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529361860	chr9:7659580-7659581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547646848	chr9:7659582-7659583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183423946	chr9:7659622-7659623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368743546	chr9:7659650-7659651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113598380	chr9:7659656-7659657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552090478	chr9:7659670-7659671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74649355	chr9:7659672-7659673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149852433	chr9:7659687-7659688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144824379	chr9:7659690-7659691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113412826	chr9:7659692-7659693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139111050	chr9:7659817-7659818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77977713	chr9:7659818-7659819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144005946	chr9:7659826-7659827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577809941	chr9:7659833-7659834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187811427	chr9:7659844-7659845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2930734	chr9:7659850-7659851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376195397	chr9:7659854-7659855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536801661	chr9:7659857-7659858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111690432	chr9:7659882-7659883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138458804	chr9:7659894-7659895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192763085	chr9:7659922-7659923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543376813	chr9:7659941-7659942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3005759	chr9:7659978-7659979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs79913044	chr9:7660030-7660031	Enhancers	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
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7657200-7659400	Weak transcription	Fetal Heart	heart
2	chr9:7657200-7659800	Weak transcription	Spleen	Spleen
3	chr9:7659400-7660200	Enhancers	Fetal Heart	heart
4	chr9:7665400-7666200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:7665400-7666400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:7665400-7666600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:7665600-7666200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:7665600-7666400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:7665600-7666400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:7665600-7666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:7665800-7666200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:7666000-7666600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:7666000-7666600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:7670200-7670600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr9:7670600-7671800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:7671800-7672400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr9:7676000-7677400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:7676800-7677200	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:7677000-7677200	Enhancers	Brain Substantia Nigra	brain
20	chr9:7677000-7677400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:7677000-7677800	Enhancers	Brain Hippocampus Middle	brain
22	chr9:7679600-7679800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:7683200-7684000	Enhancers	Fetal Heart	heart
24	chr9:7683400-7683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:7683400-7684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:7683400-7684200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:7683800-7689200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:7684000-7689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:7686800-7687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:7687200-7688200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:7687600-7687800	Enhancers	Fetal Lung	lung
32	chr9:7687800-7688000	Flanking Active TSS	Fetal Lung	lung
33	chr9:7688000-7689600	Enhancers	Fetal Lung	lung
34	chr9:7688000-7691000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:7688200-7691400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:7688800-7689200	Enhancers	Fetal Kidney	kidney
37	chr9:7689000-7690200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:7689200-7689400	Active TSS	Brain Substantia Nigra	brain
39	chr9:7689200-7689600	Active TSS	Brain Cingulate Gyrus	brain
40	chr9:7689200-7689600	Flanking Active TSS	Fetal Kidney	kidney
41	chr9:7689200-7689800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:7689400-7689600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr9:7689400-7689800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:7689400-7690200	Enhancers	Fetal Stomach	stomach
45	chr9:7689400-7690200	Enhancers	Ovary	ovary
46	chr9:7689400-7690400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:7689600-7689800	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:7689600-7689800	Enhancers	Brain Substantia Nigra	brain
49	chr9:7689600-7690200	Enhancers	Brain Anterior Caudate	brain
50	chr9:7689600-7691000	Enhancers	Fetal Kidney	kidney

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