Variant report

Variant	nsv521718
Chromosome Location	chr9:14866389-14867958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7020282	chr9:14866389-14866390	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138056249	chr9:14866426-14866427	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576504904	chr9:14866432-14866433	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543985798	chr9:14866440-14866441	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561371544	chr9:14866442-14866443	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527319555	chr9:14866456-14866457	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532814216	chr9:14866484-14866485	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547702081	chr9:14866511-14866512	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546878335	chr9:14866525-14866526	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527275183	chr9:14866530-14866531	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191524472	chr9:14866534-14866535	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567198640	chr9:14866551-14866552	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548614396	chr9:14866557-14866558	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532548228	chr9:14866591-14866592	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567346552	chr9:14866638-14866639	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369393434	chr9:14866640-14866641	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142531780	chr9:14866656-14866657	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146035243	chr9:14866690-14866691	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148262371	chr9:14866777-14866778	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141153735	chr9:14866880-14866881	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554093056	chr9:14866887-14866888	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572395167	chr9:14866890-14866891	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150731648	chr9:14866941-14866942	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555040679	chr9:14866943-14866944	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139028576	chr9:14866944-14866945	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552744883	chr9:14866961-14866962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543576209	chr9:14866962-14866963	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs183637565	chr9:14866983-14866984	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs386732950	chr9:14867000-14867001	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116460845	chr9:14867001-14867002	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369374567	chr9:14867003-14867004	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187357980	chr9:14867006-14867007	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530367306	chr9:14867011-14867012	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548530043	chr9:14867014-14867015	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145158574	chr9:14867061-14867062	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531407060	chr9:14867087-14867088	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199851038	chr9:14867088-14867089	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549625032	chr9:14867102-14867103	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147158456	chr9:14867137-14867138	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538815118	chr9:14867138-14867139	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547656483	chr9:14867162-14867163	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568448018	chr9:14867197-14867198	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59181850	chr9:14867198-14867199	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536557662	chr9:14867207-14867208	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375890411	chr9:14867229-14867230	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140096766	chr9:14867238-14867239	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190551521	chr9:14867242-14867243	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369090877	chr9:14867250-14867251	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537489990	chr9:14867263-14867264	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145507941	chr9:14867328-14867329	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
3	chr9:14849600-14869000	Weak transcription	Small Intestine	intestine
4	chr9:14850200-14869000	Weak transcription	Fetal Brain Male	brain
5	chr9:14853200-14868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:14858200-14868600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:14859600-14868800	Weak transcription	Aorta	Aorta
8	chr9:14859600-14869600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:14859600-14876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:14860000-14883800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:14863800-14870400	Enhancers	Colon Smooth Muscle	Colon
12	chr9:14864600-14866600	Enhancers	Fetal Kidney	kidney
13	chr9:14865000-14867600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:14865200-14866600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:14865400-14866400	Enhancers	Fetal Lung	lung
16	chr9:14865600-14867200	Active TSS	HepG2	liver
17	chr9:14865800-14866400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:14865800-14866400	Enhancers	Fetal Stomach	stomach
19	chr9:14865800-14866600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:14865800-14867000	Enhancers	Rectal Smooth Muscle	rectum
21	chr9:14866200-14867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:14866400-14867600	Weak transcription	Fetal Lung	lung
23	chr9:14866400-14868600	Weak transcription	Fetal Stomach	stomach
24	chr9:14866600-14867600	Weak transcription	Fetal Kidney	kidney
25	chr9:14866600-14868800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:14867000-14867200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:14867000-14868200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:14867200-14869000	Bivalent/Poised TSS	HepG2	liver
29	chr9:14867200-14869200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:14867600-14868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:14867600-14868600	Enhancers	Fetal Kidney	kidney
32	chr9:14867600-14868600	Enhancers	Fetal Lung	lung

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