Variant report

Variant	nsv892025
Chromosome Location	chr9:1413700-1484527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
2	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
3	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
4	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
5	chr9:1017910..1018696-chr9:1429132..1429802,2	MCF-7	breast:
6	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
7	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
8	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
9	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
10	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
11	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
12	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
13	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
14	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
15	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
16	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
17	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
18	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
19	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
20	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
21	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:

No data

Extended variants
information (count: 3782 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3782 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10119492	chr9:1413700-1413701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569969470	chr9:1413703-1413704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538228556	chr9:1413776-1413777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145744459	chr9:1413798-1413799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183401704	chr9:1413799-1413800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11789395	chr9:1413806-1413807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548220080	chr9:1413815-1413816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555099473	chr9:1413820-1413821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148670685	chr9:1413826-1413827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544027541	chr9:1413836-1413837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557348127	chr9:1413860-1413861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142143010	chr9:1413886-1413887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546184431	chr9:1413888-1413889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559792079	chr9:1413892-1413893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528545564	chr9:1413894-1413895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541952819	chr9:1413937-1413938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17805964	chr9:1413953-1413954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs533792937	chr9:1413967-1413968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376950040	chr9:1414006-1414007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529835986	chr9:1414022-1414023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151225284	chr9:1414031-1414032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187184126	chr9:1414047-1414048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191703886	chr9:1414075-1414076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140386988	chr9:1414082-1414083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565339835	chr9:1414085-1414086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183846347	chr9:1414108-1414109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547572194	chr9:1414119-1414120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186714791	chr9:1414147-1414148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568175556	chr9:1414171-1414172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537219213	chr9:1414193-1414194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370754921	chr9:1414204-1414205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570916467	chr9:1414205-1414206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16928690	chr9:1414211-1414212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530507057	chr9:1414219-1414220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192220463	chr9:1414227-1414228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553748114	chr9:1414233-1414234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16928691	chr9:1414235-1414236	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs542245018	chr9:1414236-1414237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146942624	chr9:1414252-1414253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185816122	chr9:1414263-1414264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190343313	chr9:1414289-1414290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182167382	chr9:1414321-1414322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116168055	chr9:1414401-1414402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563152197	chr9:1414436-1414437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532227100	chr9:1414484-1414485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80010255	chr9:1414524-1414525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147556081	chr9:1414528-1414529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528051753	chr9:1414530-1414531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184536226	chr9:1414540-1414541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550570986	chr9:1414549-1414550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1412200-1415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:1414000-1415000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1414200-1415400	Enhancers	Adipose Nuclei	Adipose
4	chr9:1414400-1416600	Enhancers	Fetal Muscle Leg	muscle
5	chr9:1415000-1415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1415400-1417000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
8	chr9:1415600-1415800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:1415600-1416200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr9:1415800-1418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:1416200-1416600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:1416600-1417600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr9:1418600-1418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:1427600-1428000	Enhancers	Fetal Stomach	stomach
15	chr9:1427600-1429600	Enhancers	Fetal Muscle Leg	muscle
16	chr9:1427800-1428600	Enhancers	Fetal Lung	lung
17	chr9:1428600-1431400	Weak transcription	Fetal Lung	lung
18	chr9:1429600-1433800	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:1430800-1431600	Enhancers	Fetal Brain Male	brain
20	chr9:1431400-1432400	Enhancers	Fetal Lung	lung
21	chr9:1431600-1432000	Weak transcription	Fetal Brain Male	brain
22	chr9:1432000-1432200	Enhancers	Fetal Brain Male	brain
23	chr9:1432200-1433600	Weak transcription	Fetal Brain Male	brain
24	chr9:1432400-1433400	Weak transcription	Fetal Lung	lung
25	chr9:1433400-1435000	Enhancers	Fetal Lung	lung
26	chr9:1433600-1435200	Enhancers	Fetal Brain Male	brain
27	chr9:1433800-1434800	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1434200-1435200	Enhancers	Fetal Brain Female	brain
29	chr9:1434200-1435600	Enhancers	Fetal Stomach	stomach
30	chr9:1434600-1435000	Enhancers	Brain Hippocampus Middle	brain
31	chr9:1434800-1436200	Enhancers	Colon Smooth Muscle	Colon
32	chr9:1435000-1435400	Flanking Active TSS	Fetal Lung	lung
33	chr9:1435200-1435400	Flanking Active TSS	Fetal Brain Male	brain
34	chr9:1435400-1435600	Enhancers	Fetal Brain Male	brain
35	chr9:1435400-1437000	Enhancers	Fetal Lung	lung
36	chr9:1435600-1436200	Active TSS	Fetal Brain Male	brain
37	chr9:1437000-1437600	Weak transcription	Fetal Lung	lung
38	chr9:1437600-1438000	Enhancers	Fetal Lung	lung
39	chr9:1445000-1445800	Enhancers	Fetal Lung	lung
40	chr9:1445000-1445800	Enhancers	Fetal Muscle Leg	muscle
41	chr9:1445800-1446200	Weak transcription	Fetal Lung	lung
42	chr9:1446200-1447000	Enhancers	Fetal Lung	lung
43	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
44	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
45	chr9:1453600-1455400	Enhancers	HepG2	liver
46	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
47	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
48	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
49	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
50	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain

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