Variant report

Variant	nsv968591
Chromosome Location	chr9:805503-810754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:581821..582545-chr9:807512..808214,2	MCF-7	breast:
2	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
3	chr9:706377..708156-chr9:805249..808005,2	MCF-7	breast:
4	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
5	chr9:613518..614436-chr9:806263..806822,2	MCF-7	breast:
6	chr9:613650..614569-chr9:806256..807252,7	MCF-7	breast:
7	chr9:347478..348338-chr9:806313..807172,2	MCF-7	breast:
8	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
9	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107104	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185042403	chr9:805512-805513	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188353203	chr9:805520-805521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576221568	chr9:805546-805547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192539647	chr9:805561-805562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs66518972	chr9:805626-805627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77745914	chr9:805627-805628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75261823	chr9:805661-805662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139967650	chr9:805671-805672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184514460	chr9:805691-805692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115147328	chr9:805694-805695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573681276	chr9:805725-805726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199713228	chr9:805732-805733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35092571	chr9:805733-805734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200721014	chr9:805736-805737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1853425	chr9:805737-805738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574842927	chr9:805738-805739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1323266	chr9:805760-805761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551562456	chr9:805803-805804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10815732	chr9:805815-805816	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs377418262	chr9:805819-805820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188128478	chr9:805820-805821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112058073	chr9:805847-805848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114334530	chr9:805874-805875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536391097	chr9:805969-805970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543851242	chr9:805976-805977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182039190	chr9:806033-806034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12346011	chr9:806102-806103	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs386731464	chr9:806120-806121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10758918	chr9:806121-806122	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138266150	chr9:806126-806127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572671853	chr9:806130-806131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535304271	chr9:806135-806136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184630603	chr9:806146-806147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12346018	chr9:806152-806153	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375185239	chr9:806153-806154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150226619	chr9:806155-806156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562581372	chr9:806216-806217	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55757081	chr9:806228-806229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545246945	chr9:806231-806232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189078671	chr9:806236-806237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527627173	chr9:806239-806240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10758919	chr9:806240-806241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145987975	chr9:806247-806248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56003013	chr9:806263-806264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56046102	chr9:806276-806277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569828204	chr9:806295-806296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538716929	chr9:806304-806305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552525157	chr9:806306-806307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs386731465	chr9:806333-806334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76934784	chr9:806335-806336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:794600-809600	Weak transcription	Right Atrium	heart
2	chr9:802800-808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:802800-811600	Weak transcription	HMEC	breast
4	chr9:803000-808800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:804600-805800	Enhancers	HUVEC	blood vessel
6	chr9:804800-805600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:805000-805600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:805000-805600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:805000-805600	Enhancers	NHEK	skin
10	chr9:805600-810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:805600-810600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:805600-810800	Weak transcription	NHEK	skin
13	chr9:805800-806200	Weak transcription	HUVEC	blood vessel
14	chr9:806200-806800	Enhancers	Dnd41	blood
15	chr9:806200-806800	Enhancers	HUVEC	blood vessel
16	chr9:806400-807200	Enhancers	HepG2	liver
17	chr9:806800-807000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:807000-810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:808800-809000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:808800-809200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:808800-809200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
22	chr9:809000-809200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:809200-811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:810200-811400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:810200-811800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:810400-811000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:810400-811800	Enhancers	Colon Smooth Muscle	Colon
28	chr9:810400-811800	Enhancers	A549	lung
29	chr9:810600-811400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:810600-811800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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