Variant report

Variant	nsv824895
Chromosome Location	chr9:27217758-27218350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558418144	chr9:27217773-27217774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111512563	chr9:27217783-27217784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs66492517	chr9:27217784-27217785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199961950	chr9:27217791-27217792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57300282	chr9:27217792-27217793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576962805	chr9:27217794-27217795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544219418	chr9:27217805-27217806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2275083	chr9:27217810-27217811	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs681754	chr9:27217822-27217823	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142597435	chr9:27217829-27217830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372244706	chr9:27217830-27217831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs681707	chr9:27217851-27217852	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531145242	chr9:27217852-27217853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372044562	chr9:27217856-27217857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62546532	chr9:27217857-27217858	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570998965	chr9:27217860-27217861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369547848	chr9:27217882-27217883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373090764	chr9:27217886-27217887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551938025	chr9:27217898-27217899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550190	chr9:27217947-27217948	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185315877	chr9:27217948-27217949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554168578	chr9:27217959-27217960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190612351	chr9:27217990-27217991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539985296	chr9:27217991-27217992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550982	chr9:27217992-27217993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182334152	chr9:27218002-27218003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576997449	chr9:27218009-27218010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527650775	chr9:27218044-27218045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544368286	chr9:27218045-27218046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2756901	chr9:27218053-27218054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546925739	chr9:27218078-27218079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541431040	chr9:27218107-27218108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562857992	chr9:27218127-27218128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9298888	chr9:27218128-27218129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386733901	chr9:27218129-27218130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201931698	chr9:27218131-27218132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530858751	chr9:27218132-27218133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527284318	chr9:27218139-27218140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545616596	chr9:27218145-27218146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573918	chr9:27218178-27218179	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149752686	chr9:27218195-27218196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550312684	chr9:27218200-27218201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574033	chr9:27218221-27218222	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529564760	chr9:27218233-27218234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557424324	chr9:27218237-27218238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78203066	chr9:27218258-27218259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386414727	chr9:27218263-27218264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72535321	chr9:27218264-27218265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5897226	chr9:27218265-27218266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548106532	chr9:27218299-27218300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Lung cancer	20668451	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:27193000-27220000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:27195200-27221800	Weak transcription	Fetal Intestine Large	intestine
7	chr9:27196800-27228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:27198400-27219800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:27198400-27219800	Weak transcription	Ovary	ovary
10	chr9:27201400-27224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:27202400-27220600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:27203800-27218600	Weak transcription	Aorta	Aorta
13	chr9:27210600-27219200	Weak transcription	Fetal Intestine Small	intestine
14	chr9:27211800-27231600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:27212000-27226800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:27212600-27223000	Strong transcription	Adipose Nuclei	Adipose
17	chr9:27212800-27220800	Weak transcription	Placenta	Placenta
18	chr9:27213000-27218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:27213000-27219200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:27213000-27232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:27213400-27220000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:27214000-27218600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:27214000-27218600	Weak transcription	Lung	lung
24	chr9:27215000-27218400	Weak transcription	HUVEC	blood vessel
25	chr9:27215200-27219800	Weak transcription	Fetal Stomach	stomach
26	chr9:27215400-27218400	Weak transcription	Spleen	Spleen
27	chr9:27215600-27229400	Weak transcription	Osteobl	bone
28	chr9:27216800-27218600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:27216800-27221200	Strong transcription	Left Ventricle	heart
30	chr9:27217000-27222800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:27217200-27218800	Strong transcription	Right Ventricle	heart
32	chr9:27217400-27220400	Weak transcription	Liver	Liver
33	chr9:27217600-27220800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:27217800-27218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:27218200-27223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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