Variant report

Variant	nsv892023
Chromosome Location	chr9:1382861-1468923
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	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
2	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
3	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
4	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
5	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
6	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
7	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
8	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
9	chr9:1459863..1460538-chr9:1837555..1838175,2	MCF-7	breast:
10	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
11	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
12	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
13	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
14	chr9:1017910..1018696-chr9:1429132..1429802,2	MCF-7	breast:
15	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
16	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
17	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
18	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
19	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
20	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:

No data

Extended variants
information (count: 3467 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3467 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7048159	chr9:1382861-1382862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112031463	chr9:1382885-1382886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531804645	chr9:1382889-1382890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142355330	chr9:1382892-1382893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565927865	chr9:1382938-1382939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533690237	chr9:1382969-1382970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35204378	chr9:1382998-1382999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376989624	chr9:1383043-1383044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564062552	chr9:1383061-1383062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75048761	chr9:1383062-1383063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76130603	chr9:1383073-1383074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189791724	chr9:1383080-1383081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146278009	chr9:1383115-1383116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571654179	chr9:1383119-1383120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538923795	chr9:1383121-1383122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113413289	chr9:1383148-1383149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572272439	chr9:1383169-1383170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74388123	chr9:1383185-1383186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561238861	chr9:1383197-1383198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141462627	chr9:1383249-1383250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28416059	chr9:1383251-1383252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115903600	chr9:1383286-1383287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111731553	chr9:1383299-1383300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374502243	chr9:1383320-1383321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552450428	chr9:1383323-1383324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543002600	chr9:1383363-1383364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563280532	chr9:1383366-1383367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528670333	chr9:1383381-1383382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17743398	chr9:1383446-1383447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150574228	chr9:1383472-1383473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529776159	chr9:1383482-1383483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549551142	chr9:1383510-1383511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138575222	chr9:1383598-1383599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538589726	chr9:1383607-1383608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149333119	chr9:1383641-1383642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144625435	chr9:1383645-1383646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534538570	chr9:1383660-1383661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139380047	chr9:1383673-1383674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564453440	chr9:1383682-1383683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7037482	chr9:1383725-1383726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547125875	chr9:1383733-1383734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143989859	chr9:1383735-1383736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576830980	chr9:1383762-1383763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370860505	chr9:1383768-1383769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559638530	chr9:1383783-1383784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114301175	chr9:1383788-1383789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542087773	chr9:1383810-1383811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551841982	chr9:1383823-1383824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115388652	chr9:1383883-1383884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549904208	chr9:1383893-1383894	Weak transcription Enhancers	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1373600-1384000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1378200-1384000	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:1379600-1384800	Weak transcription	Psoas Muscle	Psoas
4	chr9:1383600-1385400	Enhancers	Fetal Lung	lung
5	chr9:1384000-1384200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1384000-1386200	Enhancers	Adipose Nuclei	Adipose
7	chr9:1384200-1385000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:1384200-1386400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:1384800-1385000	Enhancers	Psoas Muscle	Psoas
10	chr9:1386200-1387800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:1386400-1386800	Enhancers	Fetal Muscle Leg	muscle
12	chr9:1387800-1388000	Enhancers	Adipose Nuclei	Adipose
13	chr9:1401600-1401800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:1401600-1402400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:1401600-1402400	Enhancers	Brain Substantia Nigra	brain
16	chr9:1401800-1402800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:1402000-1402400	Enhancers	Brain Hippocampus Middle	brain
18	chr9:1402400-1402800	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:1402400-1403200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:1402400-1403400	Weak transcription	Brain Substantia Nigra	brain
21	chr9:1402800-1403400	Enhancers	Brain Hippocampus Middle	brain
22	chr9:1402800-1403600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:1403000-1403400	Enhancers	Brain Angular Gyrus	brain
24	chr9:1403200-1403400	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:1403400-1403600	Enhancers	Brain Substantia Nigra	brain
26	chr9:1404600-1405200	Enhancers	Psoas Muscle	Psoas
27	chr9:1404600-1406400	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1412000-1412200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:1412200-1415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:1414000-1415000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:1414200-1415400	Enhancers	Adipose Nuclei	Adipose
32	chr9:1414400-1416600	Enhancers	Fetal Muscle Leg	muscle
33	chr9:1415000-1415600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:1415400-1417000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:1415400-1452800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:1415600-1415800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:1415600-1416200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:1415800-1418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:1416200-1416600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:1416600-1417600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:1418600-1418800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:1427600-1428000	Enhancers	Fetal Stomach	stomach
43	chr9:1427600-1429600	Enhancers	Fetal Muscle Leg	muscle
44	chr9:1427800-1428600	Enhancers	Fetal Lung	lung
45	chr9:1428600-1431400	Weak transcription	Fetal Lung	lung
46	chr9:1429600-1433800	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:1430800-1431600	Enhancers	Fetal Brain Male	brain
48	chr9:1431400-1432400	Enhancers	Fetal Lung	lung
49	chr9:1431600-1432000	Weak transcription	Fetal Brain Male	brain
50	chr9:1432000-1432200	Enhancers	Fetal Brain Male	brain

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