Variant report

Variant	nsv1048086
Chromosome Location	chr9:86040900-86059732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86054433..86056553-chr9:86066145..86068552,2	MCF-7	breast:
2	chr9:86046794..86050465-chr9:86050692..86054566,4	MCF-7	breast:
3	chr9:86045543..86047511-chr9:86062619..86064900,2	MCF-7	breast:
4	chr9:86046084..86048921-chr9:86138267..86141242,2	MCF-7	breast:
5	chr9:86046794..86050465-chr9:86050692..86054566,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238608	chromatin interactions

Extended variants
information (count: 768 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528206426	chr9:86040917-86040918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546639068	chr9:86040928-86040929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11140080	chr9:86040948-86040949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143806487	chr9:86040951-86040952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7029023	chr9:86040952-86040953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570412338	chr9:86040953-86040954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537780570	chr9:86040983-86040984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7856827	chr9:86040984-86040985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549144834	chr9:86040998-86040999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78486648	chr9:86041012-86041013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72745060	chr9:86041017-86041018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553384267	chr9:86041037-86041038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79287358	chr9:86041045-86041046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574793927	chr9:86041060-86041061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11140081	chr9:86041189-86041190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563497700	chr9:86041212-86041213	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556733665	chr9:86041281-86041282	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575187157	chr9:86041287-86041288	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11140082	chr9:86041302-86041303	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10217271	chr9:86041327-86041328	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs193020555	chr9:86041330-86041331	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11140083	chr9:86041346-86041347	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7029634	chr9:86041369-86041370	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548796855	chr9:86041374-86041375	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74572514	chr9:86041375-86041376	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544368346	chr9:86041381-86041382	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563857575	chr9:86041398-86041399	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531125863	chr9:86041401-86041402	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184689208	chr9:86041410-86041411	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549625787	chr9:86041421-86041422	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567556492	chr9:86041423-86041424	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115760060	chr9:86041424-86041425	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546667434	chr9:86041445-86041446	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189057182	chr9:86041514-86041515	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116145898	chr9:86041543-86041544	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78699537	chr9:86041599-86041600	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12235233	chr9:86041629-86041630	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568673678	chr9:86041666-86041667	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181361366	chr9:86041732-86041733	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184100615	chr9:86041771-86041772	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72745061	chr9:86041794-86041795	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78874840	chr9:86041846-86041847	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560185067	chr9:86041881-86041882	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139127678	chr9:86041882-86041883	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577046853	chr9:86041887-86041888	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17404131	chr9:86041964-86041965	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563894768	chr9:86041977-86041978	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10217669	chr9:86042009-86042010	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542959573	chr9:86042019-86042020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17086262	chr9:86042031-86042032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86013400-86041000	Weak transcription	Aorta	Aorta
2	chr9:86021200-86041600	Weak transcription	Right Ventricle	heart
3	chr9:86035400-86041400	Weak transcription	Psoas Muscle	Psoas
4	chr9:86036800-86041200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:86037600-86041000	Weak transcription	Adipose Nuclei	Adipose
6	chr9:86037800-86047200	Weak transcription	Fetal Stomach	stomach
7	chr9:86038000-86041400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:86038400-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:86038400-86046600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:86038600-86041400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:86039200-86041200	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:86039200-86041200	Weak transcription	Gastric	stomach
13	chr9:86039200-86041200	Weak transcription	Right Atrium	heart
14	chr9:86039200-86041400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:86039200-86050000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:86039400-86041000	Weak transcription	Ovary	ovary
17	chr9:86039600-86041200	Enhancers	HepG2	liver
18	chr9:86039600-86041400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:86040000-86045800	Weak transcription	Fetal Lung	lung
20	chr9:86040000-86045800	Weak transcription	Small Intestine	intestine
21	chr9:86040000-86046000	Weak transcription	Fetal Heart	heart
22	chr9:86040200-86046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:86040400-86041400	Weak transcription	Pancreas	Pancrea
24	chr9:86040400-86045800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:86040400-86050000	Weak transcription	Fetal Intestine Large	intestine
26	chr9:86040600-86041000	Weak transcription	Spleen	Spleen
27	chr9:86040800-86042400	Enhancers	Left Ventricle	heart
28	chr9:86041000-86041800	Enhancers	Ovary	ovary
29	chr9:86041000-86041800	Enhancers	Spleen	Spleen
30	chr9:86041000-86042200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:86041000-86042200	Enhancers	Aorta	Aorta
32	chr9:86041000-86042400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:86041000-86042400	Enhancers	Adipose Nuclei	Adipose
34	chr9:86041000-86042400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr9:86041200-86041800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:86041200-86042000	Enhancers	Fetal Muscle Leg	muscle
37	chr9:86041200-86042000	Genic enhancers	HepG2	liver
38	chr9:86041200-86042200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:86041200-86042200	Enhancers	Colon Smooth Muscle	Colon
40	chr9:86041200-86042200	Enhancers	Lung	lung
41	chr9:86041200-86042200	Enhancers	Right Atrium	heart
42	chr9:86041200-86042200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:86041200-86042400	Enhancers	Gastric	stomach
44	chr9:86041400-86041600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr9:86041400-86041800	Enhancers	Brain Angular Gyrus	brain
46	chr9:86041400-86041800	Enhancers	Pancreas	Pancrea
47	chr9:86041400-86041800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr9:86041400-86041800	Enhancers	Stomach Smooth Muscle	stomach
49	chr9:86041400-86042200	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:86041400-86042200	Enhancers	Psoas Muscle	Psoas

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