Variant report

Variant	nsv519384
Chromosome Location	chr9:18924136-18931061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:18926118..18927929-chr9:18928691..18930681,2	K562	blood:
2	chr9:18930120..18933009-chr9:19409759..19411895,3	K562	blood:
3	chr9:18930120..18932657-chr9:19409759..19411895,2	K562	blood:
4	chr9:18920619..18922521-chr9:18924227..18925910,2	K562	blood:
5	chr9:18926118..18927929-chr9:18928691..18930681,2	K562	blood:
6	chr9:18917515..18919753-chr9:18924648..18926162,2	K562	blood:

Extended variants
information (count: 427 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs731529	chr9:18924136-18924137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534001435	chr9:18924205-18924206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376527202	chr9:18924206-18924207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549488800	chr9:18924212-18924213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116197488	chr9:18924213-18924214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370138486	chr9:18924236-18924237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150827127	chr9:18924266-18924267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75851490	chr9:18924267-18924268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577966459	chr9:18924279-18924280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538957600	chr9:18924337-18924338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553455373	chr9:18924356-18924357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12349340	chr9:18924394-18924395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572042160	chr9:18924424-18924425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542335416	chr9:18924460-18924461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7022140	chr9:18924463-18924464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs573885866	chr9:18924472-18924473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544358623	chr9:18924488-18924489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562743727	chr9:18924490-18924491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145347989	chr9:18924505-18924506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552065350	chr9:18924562-18924563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73645302	chr9:18924591-18924592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147649037	chr9:18924592-18924593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549202256	chr9:18924623-18924624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368591266	chr9:18924645-18924646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567725857	chr9:18924652-18924653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371104426	chr9:18924680-18924681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538348569	chr9:18924723-18924724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117745247	chr9:18924798-18924799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183312236	chr9:18924815-18924816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186168703	chr9:18924819-18924820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554063934	chr9:18924835-18924836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533258742	chr9:18924841-18924842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538494829	chr9:18924846-18924847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571942295	chr9:18924881-18924882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560544794	chr9:18924938-18924939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554153321	chr9:18924984-18924985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575685257	chr9:18924990-18924991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554005854	chr9:18924998-18924999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78385328	chr9:18925039-18925040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562705116	chr9:18925071-18925072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577848687	chr9:18925080-18925081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545352641	chr9:18925107-18925108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560883779	chr9:18925112-18925113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142259159	chr9:18925141-18925142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566008400	chr9:18925162-18925163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144427595	chr9:18925170-18925171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561291456	chr9:18925193-18925194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536534934	chr9:18925211-18925212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531806360	chr9:18925261-18925262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550332305	chr9:18925274-18925275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18909800-18924400	Weak transcription	Aorta	Aorta
2	chr9:18912400-18935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:18922800-18928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:18922800-18929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:18923600-18925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:18923600-18926000	Weak transcription	Osteobl	bone
7	chr9:18923600-18935400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:18923800-18926400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:18926000-18926600	Enhancers	Osteobl	bone
10	chr9:18926200-18926400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:18926400-18927400	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:18926600-18928200	Weak transcription	Osteobl	bone
13	chr9:18928200-18928400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:18928200-18928600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:18928200-18929600	Enhancers	Osteobl	bone
16	chr9:18928400-18928800	Enhancers	NH-A	brain
17	chr9:18928400-18935400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:18929200-18929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:18929400-18935200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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