Variant report

Variant	nsv892591
Chromosome Location	chr9:13763734-13828594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:13809014..13811930-chr9:13812607..13815192,2	MCF-7	breast:
2	chr9:13757149..13759408-chr9:13764816..13767802,2	MCF-7	breast:
3	chr9:13809014..13811930-chr9:13812607..13815192,2	MCF-7	breast:

Extended variants
information (count: 3070 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3070 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10756497	chr9:13763734-13763735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11789856	chr9:13763739-13763740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538932376	chr9:13763747-13763748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558232537	chr9:13763748-13763749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574915376	chr9:13763759-13763760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367949271	chr9:13763785-13763786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543882079	chr9:13763810-13763811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187453865	chr9:13763821-13763822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573893669	chr9:13763836-13763837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150386319	chr9:13763853-13763854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116577270	chr9:13763874-13763875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548480488	chr9:13763877-13763878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528747643	chr9:13763880-13763881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557320812	chr9:13763888-13763889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192714812	chr9:13763900-13763901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137893827	chr9:13763923-13763924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184895060	chr9:13763933-13763934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551082886	chr9:13763984-13763985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573676828	chr9:13764012-13764013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567804720	chr9:13764016-13764017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533985743	chr9:13764017-13764018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7855381	chr9:13764019-13764020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561368194	chr9:13764034-13764035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546436107	chr9:13764039-13764040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188050671	chr9:13764060-13764061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35130746	chr9:13764069-13764070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529342339	chr9:13764074-13764075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558452135	chr9:13764091-13764092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568496358	chr9:13764097-13764098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537494966	chr9:13764121-13764122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143450640	chr9:13764162-13764163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574155985	chr9:13764178-13764179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192093439	chr9:13764209-13764210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184636054	chr9:13764210-13764211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528770974	chr9:13764214-13764215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190321077	chr9:13764237-13764238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545364685	chr9:13764257-13764258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148316608	chr9:13764263-13764264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565620436	chr9:13764277-13764278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75125620	chr9:13764314-13764315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530921981	chr9:13764318-13764319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181132130	chr9:13764348-13764349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561274952	chr9:13764361-13764362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147146403	chr9:13764369-13764370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138705299	chr9:13764396-13764397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373002490	chr9:13764404-13764405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184902444	chr9:13764432-13764433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17805200	chr9:13764434-13764435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568764157	chr9:13764441-13764442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545245868	chr9:13764447-13764448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
abnormal development	18461090	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
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
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
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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13758200-13787200	Weak transcription	Aorta	Aorta
2	chr9:13760000-13764600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:13764600-13764800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:13777000-13777400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:13777000-13779600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:13777200-13777600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:13777400-13778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:13777600-13778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:13778000-13779600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:13778000-13779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:13778200-13778600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:13778200-13778600	Enhancers	HSMM	muscle
13	chr9:13778200-13778600	Enhancers	HSMMtube	muscle
14	chr9:13778200-13779000	Enhancers	NH-A	brain
15	chr9:13778200-13779800	Enhancers	Fetal Heart	heart
16	chr9:13778400-13779000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:13778600-13779000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:13778600-13779000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr9:13778600-13779000	Flanking Active TSS	HSMM	muscle
20	chr9:13778600-13779200	Flanking Active TSS	HSMMtube	muscle
21	chr9:13778600-13779400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr9:13778800-13779000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:13778800-13779000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:13778800-13779400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:13778800-13779400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:13779000-13779400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:13779000-13779600	Enhancers	HSMM	muscle
28	chr9:13779000-13791600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:13779200-13779400	Enhancers	HSMMtube	muscle
30	chr9:13779800-13785600	Weak transcription	Fetal Heart	heart
31	chr9:13785600-13787000	Enhancers	Fetal Heart	heart
32	chr9:13785800-13787000	Enhancers	NHLF	lung
33	chr9:13785800-13787200	Enhancers	Fetal Lung	lung
34	chr9:13785800-13787200	Enhancers	Right Ventricle	heart
35	chr9:13785800-13787200	Enhancers	NHDF-Ad	bronchial
36	chr9:13786000-13787000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:13786000-13787000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:13786000-13787000	Enhancers	Right Atrium	heart
39	chr9:13786000-13787400	Enhancers	Fetal Muscle Leg	muscle
40	chr9:13786200-13786400	Enhancers	Brain Angular Gyrus	brain
41	chr9:13786200-13786400	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:13786200-13786400	Enhancers	Fetal Muscle Trunk	muscle
43	chr9:13786200-13786400	Enhancers	Psoas Muscle	Psoas
44	chr9:13786200-13787000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:13786200-13787000	Enhancers	Adipose Nuclei	Adipose
46	chr9:13786200-13787200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:13786200-13787200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:13786200-13787200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:13786200-13787200	Enhancers	Stomach Smooth Muscle	stomach
50	chr9:13786200-13787400	Enhancers	HSMMtube	muscle

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