Variant report

Variant	esv2761478
Chromosome Location	chr9:1518733-1685649
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
2	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
3	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
4	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
5	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
6	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
7	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
8	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
9	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
10	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
11	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
12	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-2	chr9:1633518-1633545	XLOC_007264

No data

Extended variants
information (count: 5758 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:5758 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961879	chr9:1518733-1518734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542995101	chr9:1518752-1518753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190024993	chr9:1518756-1518757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544120588	chr9:1518765-1518766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7019450	chr9:1518777-1518778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7036317	chr9:1518780-1518781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111820068	chr9:1518802-1518803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182646292	chr9:1518828-1518829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7019600	chr9:1518881-1518882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556380789	chr9:1518915-1518916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188116572	chr9:1518937-1518938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572153801	chr9:1518968-1518969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193063339	chr9:1518971-1518972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112638763	chr9:1518981-1518982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150316697	chr9:1518995-1518996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540117700	chr9:1519001-1519002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560054342	chr9:1519033-1519034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138281481	chr9:1519035-1519036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386731563	chr9:1519041-1519042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7022816	chr9:1519043-1519044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531451051	chr9:1519091-1519092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551974647	chr9:1519099-1519100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565457518	chr9:1519127-1519128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188897847	chr9:1519139-1519140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193102089	chr9:1519140-1519141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567997220	chr9:1519147-1519148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184868925	chr9:1519213-1519214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115000974	chr9:1519276-1519277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570021774	chr9:1519289-1519290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10122223	chr9:1519313-1519314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201638379	chr9:1519333-1519334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558657377	chr9:1519353-1519354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62534854	chr9:1519378-1519379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533781414	chr9:1519393-1519394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545213096	chr9:1519409-1519410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7851396	chr9:1519413-1519414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75307963	chr9:1519436-1519437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76797657	chr9:1519439-1519440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562524996	chr9:1519445-1519446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188118282	chr9:1519501-1519502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191427072	chr9:1519502-1519503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73641709	chr9:1519519-1519520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78619603	chr9:1519526-1519527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183909567	chr9:1519549-1519550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550959939	chr9:1519575-1519576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371640997	chr9:1519576-1519577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139347165	chr9:1519586-1519587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376917094	chr9:1519610-1519611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530440855	chr9:1519616-1519617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549880976	chr9:1519647-1519648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:1521600-1522200	Enhancers	Fetal Muscle Leg	muscle
4	chr9:1521600-1523600	Enhancers	GM12878-XiMat	blood
5	chr9:1521800-1523000	Enhancers	Fetal Lung	lung
6	chr9:1522200-1522600	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:1522600-1523400	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1522600-1523800	Enhancers	Adipose Nuclei	Adipose
9	chr9:1523400-1527800	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:1527800-1530000	Enhancers	Fetal Muscle Leg	muscle
11	chr9:1529600-1530000	Enhancers	Pancreas	Pancrea
12	chr9:1530000-1531200	Weak transcription	Pancreas	Pancrea
13	chr9:1531200-1532600	Enhancers	Pancreas	Pancrea
14	chr9:1531200-1533400	Enhancers	Fetal Muscle Leg	muscle
15	chr9:1531400-1533200	Enhancers	Fetal Stomach	stomach
16	chr9:1532400-1532600	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:1533200-1533400	Enhancers	Fetal Muscle Trunk	muscle
18	chr9:1535400-1537400	Enhancers	GM12878-XiMat	blood
19	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
20	chr9:1550600-1551000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:1551000-1553200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:1553200-1554600	Enhancers	Fetal Muscle Leg	muscle
23	chr9:1553200-1555200	Enhancers	Fetal Lung	lung
24	chr9:1553600-1554000	Enhancers	Fetal Stomach	stomach
25	chr9:1554000-1554600	Enhancers	Fetal Kidney	kidney
26	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
32	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood
33	chr9:1589000-1589200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:1598600-1600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:1599200-1600800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:1599800-1602400	Enhancers	Fetal Lung	lung
37	chr9:1600000-1600200	Enhancers	Fetal Kidney	kidney
38	chr9:1600800-1601600	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:1601400-1601600	Enhancers	Fetal Kidney	kidney
40	chr9:1601600-1603000	Enhancers	Fetal Muscle Leg	muscle
41	chr9:1603000-1606400	Weak transcription	Fetal Muscle Leg	muscle
42	chr9:1606400-1608000	Enhancers	Fetal Muscle Leg	muscle
43	chr9:1606600-1608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:1608000-1608400	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:1608400-1609200	Enhancers	Fetal Muscle Leg	muscle
46	chr9:1612400-1613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:1612600-1613600	Enhancers	NHEK	skin
48	chr9:1616400-1616600	Bivalent Enhancer	Left Ventricle	heart
49	chr9:1619800-1620000	Enhancers	Brain Substantia Nigra	brain
50	chr9:1619800-1620400	Enhancers	Brain Angular Gyrus	brain

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