Variant report

Variant	nsv892027
Chromosome Location	chr9:1439567-1474523
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
2	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
3	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
4	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
5	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
6	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
7	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
8	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
9	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
10	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
11	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
12	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
13	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
14	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:

No data

Extended variants
information (count: 1711 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs658817	chr9:1439567-1439568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187695901	chr9:1439582-1439583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528424448	chr9:1439585-1439586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10961470	chr9:1439631-1439632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs193110738	chr9:1439649-1439650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565612694	chr9:1439668-1439669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373947844	chr9:1439677-1439678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10961472	chr9:1439689-1439690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563465762	chr9:1439692-1439693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532230599	chr9:1439700-1439701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534230154	chr9:1439702-1439703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185562025	chr9:1439707-1439708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76642454	chr9:1439733-1439734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142123310	chr9:1439739-1439740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189168935	chr9:1439742-1439743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114442647	chr9:1439792-1439793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537132117	chr9:1439799-1439800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556794204	chr9:1439804-1439805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75942473	chr9:1439813-1439814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151162125	chr9:1439831-1439832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553210895	chr9:1439850-1439851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573198243	chr9:1439852-1439853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542145015	chr9:1439860-1439861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555327525	chr9:1439866-1439867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575253905	chr9:1439905-1439906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372996030	chr9:1439927-1439928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192087064	chr9:1439959-1439960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140552806	chr9:1439968-1439969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545673733	chr9:1439970-1439971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537312845	chr9:1439987-1439988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184312414	chr9:1440008-1440009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368174514	chr9:1440018-1440019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528370612	chr9:1440081-1440082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548536386	chr9:1440161-1440162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188659219	chr9:1440168-1440169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181096997	chr9:1440173-1440174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75413434	chr9:1440213-1440214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375217564	chr9:1440284-1440285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570463386	chr9:1440290-1440291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554295703	chr9:1440301-1440302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565681458	chr9:1440311-1440312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574230199	chr9:1440326-1440327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138502183	chr9:1440353-1440354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566760043	chr9:1440399-1440400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535717005	chr9:1440407-1440408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555663984	chr9:1440421-1440422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111701294	chr9:1440447-1440448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115380224	chr9:1440465-1440466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558175969	chr9:1440485-1440486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189318209	chr9:1440488-1440489	Weak transcription	n/a	n/a	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
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

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1445000-1445800	Enhancers	Fetal Lung	lung
3	chr9:1445000-1445800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1445800-1446200	Weak transcription	Fetal Lung	lung
5	chr9:1446200-1447000	Enhancers	Fetal Lung	lung
6	chr9:1452800-1455400	Enhancers	Adipose Nuclei	Adipose
7	chr9:1453600-1454800	Enhancers	Brain Substantia Nigra	brain
8	chr9:1453600-1455400	Enhancers	HepG2	liver
9	chr9:1453800-1454400	Enhancers	Pancreas	Pancrea
10	chr9:1453800-1454600	Enhancers	Brain Anterior Caudate	brain
11	chr9:1453800-1455000	Enhancers	Brain Cingulate Gyrus	brain
12	chr9:1453800-1455000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:1453800-1455000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:1453800-1455000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:1454000-1454600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:1454000-1455000	Enhancers	Brain Angular Gyrus	brain
17	chr9:1454000-1455000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:1454400-1454800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:1454600-1454800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:1454800-1455000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:1454800-1456200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:1455000-1455600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:1455000-1456200	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:1455000-1457200	Enhancers	HSMMtube	muscle
25	chr9:1455400-1460400	Weak transcription	HepG2	liver
26	chr9:1455600-1456000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:1456200-1457000	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1456400-1456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:1456800-1457000	Enhancers	NHEK	skin
30	chr9:1457200-1458200	Weak transcription	NHEK	skin
31	chr9:1458200-1458600	Enhancers	HSMM	muscle
32	chr9:1458200-1459000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:1458200-1459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:1458200-1459400	Enhancers	NHEK	skin
35	chr9:1458400-1459000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:1459200-1459400	Enhancers	HSMMtube	muscle
37	chr9:1460400-1460800	Enhancers	HepG2	liver
38	chr9:1460600-1460800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr9:1461000-1462600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:1461800-1462200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:1461800-1462800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:1462600-1462800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:1463000-1464400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr9:1463600-1463800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
46	chr9:1469000-1472000	Enhancers	GM12878-XiMat	blood

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