Variant report

Variant	nsv539915
Chromosome Location	chr9:1429839-1554752
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
2	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
3	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
4	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
5	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
6	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
7	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
8	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
9	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
10	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
11	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
12	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
13	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
14	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
15	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
16	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
17	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
18	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
19	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
20	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
21	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
22	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
23	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:

No data

Extended variants
information (count: 6453 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:6453 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185656527	chr9:1429846-1429847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143253412	chr9:1429855-1429856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546156115	chr9:1429885-1429886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571681819	chr9:1429930-1429931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202039739	chr9:1429945-1429946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191431480	chr9:1429947-1429948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117613498	chr9:1429972-1429973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147509050	chr9:1429975-1429976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12351868	chr9:1430003-1430004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563849684	chr9:1430032-1430033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140218578	chr9:1430065-1430066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57147134	chr9:1430080-1430081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566397577	chr9:1430095-1430096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35762762	chr9:1430102-1430103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62533084	chr9:1430129-1430130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182809296	chr9:1430139-1430140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs878744	chr9:1430163-1430164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs371543887	chr9:1430165-1430166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144370523	chr9:1430186-1430187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374484892	chr9:1430209-1430210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575800697	chr9:1430214-1430215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538471688	chr9:1430225-1430226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548371485	chr9:1430231-1430232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187929661	chr9:1430254-1430255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572019046	chr9:1430257-1430258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541357731	chr9:1430259-1430260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376984087	chr9:1430264-1430265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377293390	chr9:1430268-1430269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560719843	chr9:1430276-1430277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574403314	chr9:1430312-1430313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543136081	chr9:1430326-1430327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142249446	chr9:1430327-1430328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532724950	chr9:1430338-1430339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57119028	chr9:1430343-1430344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192217072	chr9:1430361-1430362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568426446	chr9:1430363-1430364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151277344	chr9:1430376-1430377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183506257	chr9:1430380-1430381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568350371	chr9:1430400-1430401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530952068	chr9:1430412-1430413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187842098	chr9:1430439-1430440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570617429	chr9:1430464-1430465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570226475	chr9:1430525-1430526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538406423	chr9:1430527-1430528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534308673	chr9:1430544-1430545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192322936	chr9:1430548-1430549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113548443	chr9:1430559-1430560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534592486	chr9:1430576-1430577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554881628	chr9:1430592-1430593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574316349	chr9:1430597-1430598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1428600-1431400	Weak transcription	Fetal Lung	lung
3	chr9:1429600-1433800	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:1430800-1431600	Enhancers	Fetal Brain Male	brain
5	chr9:1431400-1432400	Enhancers	Fetal Lung	lung
6	chr9:1431600-1432000	Weak transcription	Fetal Brain Male	brain
7	chr9:1432000-1432200	Enhancers	Fetal Brain Male	brain
8	chr9:1432200-1433600	Weak transcription	Fetal Brain Male	brain
9	chr9:1432400-1433400	Weak transcription	Fetal Lung	lung
10	chr9:1433400-1435000	Enhancers	Fetal Lung	lung
11	chr9:1433600-1435200	Enhancers	Fetal Brain Male	brain
12	chr9:1433800-1434800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1434200-1435200	Enhancers	Fetal Brain Female	brain
14	chr9:1434200-1435600	Enhancers	Fetal Stomach	stomach
15	chr9:1434600-1435000	Enhancers	Brain Hippocampus Middle	brain
16	chr9:1434800-1436200	Enhancers	Colon Smooth Muscle	Colon
17	chr9:1435000-1435400	Flanking Active TSS	Fetal Lung	lung
18	chr9:1435200-1435400	Flanking Active TSS	Fetal Brain Male	brain
19	chr9:1435400-1435600	Enhancers	Fetal Brain Male	brain
20	chr9:1435400-1437000	Enhancers	Fetal Lung	lung
21	chr9:1435600-1436200	Active TSS	Fetal Brain Male	brain
22	chr9:1437000-1437600	Weak transcription	Fetal Lung	lung
23	chr9:1437600-1438000	Enhancers	Fetal Lung	lung
24	chr9:1445000-1445800	Enhancers	Fetal Lung	lung
25	chr9:1445000-1445800	Enhancers	Fetal Muscle Leg	muscle
26	chr9:1445800-1446200	Weak transcription	Fetal Lung	lung
27	chr9:1446200-1447000	Enhancers	Fetal Lung	lung
28	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
29	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
30	chr9:1453600-1455400	Enhancers	HepG2	liver
31	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
32	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
33	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
34	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
35	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:1453800-1455000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:1454000-1454600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:1454000-1455000	Enhancers	Brain Angular Gyrus	brain
39	chr9:1454000-1455000	Enhancers	Fetal Muscle Leg	muscle
40	chr9:1454400-1454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:1454600-1454800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:1454800-1455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:1454800-1456200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:1455000-1455600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:1455000-1456200	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:1455000-1457200	Enhancers	HSMMtube	muscle
47	chr9:1455400-1460400	Weak transcription	HepG2	liver
48	chr9:1455600-1456000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:1456200-1457000	Enhancers	Fetal Muscle Leg	muscle
50	chr9:1456400-1456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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