Variant report

Variant	nsv1025668
Chromosome Location	chr9:1370846-1473093
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
2	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
3	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
4	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
5	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
6	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
7	chr9:1017910..1018696-chr9:1429132..1429802,2	MCF-7	breast:
8	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
9	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
10	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
11	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
12	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
13	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
14	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
15	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
16	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
17	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
18	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
19	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
20	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
21	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
22	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:

No data

Extended variants
information (count: 4126 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4126 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139819936	chr9:1373405-1373406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186747672	chr9:1373451-1373452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554768731	chr9:1373452-1373453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191642044	chr9:1373474-1373475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570350819	chr9:1373491-1373492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535981388	chr9:1373563-1373564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547966006	chr9:1373569-1373570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73387931	chr9:1373613-1373614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545005824	chr9:1373618-1373619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182715092	chr9:1373619-1373620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80146851	chr9:1373646-1373647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7030877	chr9:1373664-1373665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572334676	chr9:1373722-1373723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541318334	chr9:1373758-1373759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561109562	chr9:1373781-1373782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149081055	chr9:1373798-1373799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115766771	chr9:1373799-1373800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377387602	chr9:1373806-1373807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144372006	chr9:1373825-1373826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147851614	chr9:1373828-1373829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552561438	chr9:1373830-1373831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141397673	chr9:1373846-1373847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185573094	chr9:1373879-1373880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76327059	chr9:1373899-1373900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs646785	chr9:1373944-1373945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554655602	chr9:1373979-1373980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376771564	chr9:1373981-1373982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557099183	chr9:1373984-1373985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375262695	chr9:1374098-1374099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537774714	chr9:1374128-1374129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569755199	chr9:1374135-1374136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538335185	chr9:1374148-1374149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558559205	chr9:1374151-1374152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114470626	chr9:1374164-1374165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73643519	chr9:1374304-1374305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189956790	chr9:1374311-1374312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182234306	chr9:1374367-1374368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374914359	chr9:1374386-1374387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543660113	chr9:1374430-1374431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563313877	chr9:1374449-1374450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532669374	chr9:1374526-1374527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545967968	chr9:1374541-1374542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559740106	chr9:1374546-1374547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146942304	chr9:1374548-1374549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553250650	chr9:1374549-1374550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189219081	chr9:1374552-1374553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375052005	chr9:1374591-1374592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370978871	chr9:1374595-1374596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137907404	chr9:1374605-1374606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531082055	chr9:1374610-1374611	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1373400-1373600	Enhancers	Adipose Nuclei	Adipose
2	chr9:1373600-1384000	Weak transcription	Adipose Nuclei	Adipose
3	chr9:1374000-1374400	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1374400-1377200	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:1377200-1378200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1377400-1377800	Enhancers	Psoas Muscle	Psoas
7	chr9:1378000-1378400	Enhancers	Psoas Muscle	Psoas
8	chr9:1378200-1384000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:1379600-1384800	Weak transcription	Psoas Muscle	Psoas
10	chr9:1383600-1385400	Enhancers	Fetal Lung	lung
11	chr9:1384000-1384200	Enhancers	Fetal Muscle Leg	muscle
12	chr9:1384000-1386200	Enhancers	Adipose Nuclei	Adipose
13	chr9:1384200-1385000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:1384200-1386400	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:1384800-1385000	Enhancers	Psoas Muscle	Psoas
16	chr9:1386200-1387800	Weak transcription	Adipose Nuclei	Adipose
17	chr9:1386400-1386800	Enhancers	Fetal Muscle Leg	muscle
18	chr9:1387800-1388000	Enhancers	Adipose Nuclei	Adipose
19	chr9:1401600-1401800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr9:1401600-1402400	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:1401600-1402400	Enhancers	Brain Substantia Nigra	brain
22	chr9:1401800-1402800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:1402000-1402400	Enhancers	Brain Hippocampus Middle	brain
24	chr9:1402400-1402800	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:1402400-1403200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:1402400-1403400	Weak transcription	Brain Substantia Nigra	brain
27	chr9:1402800-1403400	Enhancers	Brain Hippocampus Middle	brain
28	chr9:1402800-1403600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:1403000-1403400	Enhancers	Brain Angular Gyrus	brain
30	chr9:1403200-1403400	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:1403400-1403600	Enhancers	Brain Substantia Nigra	brain
32	chr9:1404600-1405200	Enhancers	Psoas Muscle	Psoas
33	chr9:1404600-1406400	Enhancers	Fetal Muscle Leg	muscle
34	chr9:1412000-1412200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr9:1412200-1415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:1414000-1415000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:1414200-1415400	Enhancers	Adipose Nuclei	Adipose
38	chr9:1414400-1416600	Enhancers	Fetal Muscle Leg	muscle
39	chr9:1415000-1415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:1415400-1417000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
42	chr9:1415600-1415800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:1415600-1416200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:1415800-1418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:1416200-1416600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:1416600-1417600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:1418600-1418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:1427600-1428000	Enhancers	Fetal Stomach	stomach
49	chr9:1427600-1429600	Enhancers	Fetal Muscle Leg	muscle
50	chr9:1427800-1428600	Enhancers	Fetal Lung	lung

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