Variant report

Variant	nsv892026
Chromosome Location	chr9:1416909-1471838
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2835 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2835 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16928755	chr9:1416909-1416910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538018337	chr9:1416918-1416919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535346475	chr9:1416942-1416943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555625273	chr9:1416950-1416951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150463709	chr9:1416957-1416958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575574508	chr9:1416961-1416962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115603575	chr9:1417000-1417001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536279537	chr9:1417011-1417012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138263611	chr9:1417028-1417029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142922301	chr9:1417029-1417030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545162667	chr9:1417032-1417033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181942281	chr9:1417034-1417035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73640403	chr9:1417038-1417039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541358452	chr9:1417057-1417058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561666995	chr9:1417080-1417081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145175180	chr9:1417084-1417085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138992090	chr9:1417090-1417091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557906668	chr9:1417117-1417118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563746062	chr9:1417147-1417148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186152828	chr9:1417149-1417150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141968731	chr9:1417165-1417166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144675164	chr9:1417167-1417168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571461181	chr9:1417173-1417174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527519461	chr9:1417208-1417209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148125275	chr9:1417250-1417251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10961374	chr9:1417295-1417296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535844560	chr9:1417301-1417302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116863756	chr9:1417306-1417307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs16928760	chr9:1417307-1417308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190617831	chr9:1417320-1417321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558279098	chr9:1417346-1417347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141879460	chr9:1417348-1417349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541644331	chr9:1417360-1417361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370005171	chr9:1417375-1417376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10961376	chr9:1417391-1417392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575101662	chr9:1417406-1417407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150780030	chr9:1417422-1417423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563684365	chr9:1417435-1417436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562287725	chr9:1417459-1417460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532594998	chr9:1417524-1417525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546308781	chr9:1417539-1417540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576088728	chr9:1417569-1417570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559829922	chr9:1417571-1417572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527469674	chr9:1417624-1417625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372472108	chr9:1417730-1417731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377020964	chr9:1417733-1417734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547590778	chr9:1417734-1417735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567413358	chr9:1417749-1417750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544338473	chr9:1417767-1417768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142825223	chr9:1417778-1417779	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1417000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
3	chr9:1415800-1418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:1416600-1417600	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:1418600-1418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1427600-1428000	Enhancers	Fetal Stomach	stomach
7	chr9:1427600-1429600	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1427800-1428600	Enhancers	Fetal Lung	lung
9	chr9:1428600-1431400	Weak transcription	Fetal Lung	lung
10	chr9:1429600-1433800	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:1430800-1431600	Enhancers	Fetal Brain Male	brain
12	chr9:1431400-1432400	Enhancers	Fetal Lung	lung
13	chr9:1431600-1432000	Weak transcription	Fetal Brain Male	brain
14	chr9:1432000-1432200	Enhancers	Fetal Brain Male	brain
15	chr9:1432200-1433600	Weak transcription	Fetal Brain Male	brain
16	chr9:1432400-1433400	Weak transcription	Fetal Lung	lung
17	chr9:1433400-1435000	Enhancers	Fetal Lung	lung
18	chr9:1433600-1435200	Enhancers	Fetal Brain Male	brain
19	chr9:1433800-1434800	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1434200-1435200	Enhancers	Fetal Brain Female	brain
21	chr9:1434200-1435600	Enhancers	Fetal Stomach	stomach
22	chr9:1434600-1435000	Enhancers	Brain Hippocampus Middle	brain
23	chr9:1434800-1436200	Enhancers	Colon Smooth Muscle	Colon
24	chr9:1435000-1435400	Flanking Active TSS	Fetal Lung	lung
25	chr9:1435200-1435400	Flanking Active TSS	Fetal Brain Male	brain
26	chr9:1435400-1435600	Enhancers	Fetal Brain Male	brain
27	chr9:1435400-1437000	Enhancers	Fetal Lung	lung
28	chr9:1435600-1436200	Active TSS	Fetal Brain Male	brain
29	chr9:1437000-1437600	Weak transcription	Fetal Lung	lung
30	chr9:1437600-1438000	Enhancers	Fetal Lung	lung
31	chr9:1445000-1445800	Enhancers	Fetal Lung	lung
32	chr9:1445000-1445800	Enhancers	Fetal Muscle Leg	muscle
33	chr9:1445800-1446200	Weak transcription	Fetal Lung	lung
34	chr9:1446200-1447000	Enhancers	Fetal Lung	lung
35	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
36	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
37	chr9:1453600-1455400	Enhancers	HepG2	liver
38	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
39	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
40	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
42	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr9:1453800-1455000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:1454000-1454600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:1454000-1455000	Enhancers	Brain Angular Gyrus	brain
46	chr9:1454000-1455000	Enhancers	Fetal Muscle Leg	muscle
47	chr9:1454400-1454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:1454600-1454800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:1454800-1455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:1454800-1456200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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