Variant report

Variant	nsv613372
Chromosome Location	chr9:10077180-10102903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 699 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201272869	chr9:10079003-10079004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530517244	chr9:10079037-10079038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141699806	chr9:10079074-10079075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183030132	chr9:10079123-10079124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369975358	chr9:10079134-10079135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566835744	chr9:10079140-10079141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561016878	chr9:10079164-10079165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529862865	chr9:10079238-10079239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60357083	chr9:10079253-10079254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117765480	chr9:10079261-10079262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538593594	chr9:10079262-10079263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187657709	chr9:10079266-10079267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569189010	chr9:10079323-10079324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150539707	chr9:10079324-10079325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17618258	chr9:10079326-10079327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs537528669	chr9:10079359-10079360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554785800	chr9:10079361-10079362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192473499	chr9:10079362-10079363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs718344	chr9:10079379-10079380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62537262	chr9:10079409-10079410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554362938	chr9:10079437-10079438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577514117	chr9:10079448-10079449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554745720	chr9:10079456-10079457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546219739	chr9:10079504-10079505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563181756	chr9:10079506-10079507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185028237	chr9:10079532-10079533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575160643	chr9:10079535-10079536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187986823	chr9:10079552-10079553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192197693	chr9:10079563-10079564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139446585	chr9:10079572-10079573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529693789	chr9:10079592-10079593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546286015	chr9:10079623-10079624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559955868	chr9:10079705-10079706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532316341	chr9:10079706-10079707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149666725	chr9:10079721-10079722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146270737	chr9:10079815-10079816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531621975	chr9:10079817-10079818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139462064	chr9:10079835-10079836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568573282	chr9:10079838-10079839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533774247	chr9:10079839-10079840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10511532	chr9:10079844-10079845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571090913	chr9:10079856-10079857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540001488	chr9:10079864-10079865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372380920	chr9:10079866-10079867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556602389	chr9:10079896-10079897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549537067	chr9:10079897-10079898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576643040	chr9:10079898-10079899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543866409	chr9:10079902-10079903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10958877	chr9:10079912-10079913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574084104	chr9:10079928-10079929	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10079000-10080400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:10079000-10080600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:10079000-10080600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr9:10079000-10080600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:10079200-10079800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:10079200-10080400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr9:10079200-10080600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:10079200-10080600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:10079400-10079800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:10079400-10080400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:10079400-10080400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:10079600-10080400	Enhancers	Fetal Brain Female	brain
13	chr9:10080000-10080800	Enhancers	Fetal Heart	heart
14	chr9:10085600-10085800	ZNF genes & repeats	Aorta	Aorta
15	chr9:10085800-10096000	Weak transcription	Aorta	Aorta
16	chr9:10096000-10096200	Active TSS	Aorta	Aorta

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