Variant report

Variant	nsv1030297
Chromosome Location	chr9:16913777-16931807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1137 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547991661	chr9:16913777-16913778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566104221	chr9:16913814-16913815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34131140	chr9:16913829-16913830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397893671	chr9:16913836-16913837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145013466	chr9:16913837-16913838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115727179	chr9:16913857-16913858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570176868	chr9:16913860-16913861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141898756	chr9:16913862-16913863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189558530	chr9:16913874-16913875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571186106	chr9:16913878-16913879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536965433	chr9:16913881-16913882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538516415	chr9:16913891-16913892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192991829	chr9:16913899-16913900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6475095	chr9:16913903-16913904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536451298	chr9:16913932-16913933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554365525	chr9:16913938-16913939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139336197	chr9:16913983-16913984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185086780	chr9:16913985-16913986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373798095	chr9:16913993-16913994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190327076	chr9:16914002-16914003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577176027	chr9:16914004-16914005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373096590	chr9:16914039-16914040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376523411	chr9:16914044-16914045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144032655	chr9:16914051-16914052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150539740	chr9:16914054-16914055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530227611	chr9:16914075-16914076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548801919	chr9:16914117-16914118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563614947	chr9:16914140-16914141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553045700	chr9:16914162-16914163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540369103	chr9:16914207-16914208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530939461	chr9:16914210-16914211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552275785	chr9:16914219-16914220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570478507	chr9:16914238-16914239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534707138	chr9:16914290-16914291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10962688	chr9:16914323-16914324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566013115	chr9:16914325-16914326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574631891	chr9:16914390-16914391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6475096	chr9:16914412-16914413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs554785366	chr9:16914423-16914424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528056486	chr9:16914430-16914431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563562315	chr9:16914435-16914436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546211390	chr9:16914454-16914455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374226008	chr9:16914491-16914492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575859905	chr9:16914523-16914524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139446407	chr9:16914533-16914534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149666762	chr9:16914538-16914539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557006723	chr9:16914549-16914550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559784182	chr9:16914550-16914551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113767388	chr9:16914554-16914555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376981640	chr9:16914555-16914556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Myelofibrosis	22110671	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	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16902000-16914800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:16912800-16914800	Weak transcription	Osteobl	bone
3	chr9:16912800-16915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:16912800-16921800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:16912800-16928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:16914800-16915000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:16914800-16915600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:16914800-16915600	Enhancers	Adipose Nuclei	Adipose
9	chr9:16914800-16915800	Enhancers	Osteobl	bone
10	chr9:16915000-16915200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16915000-16915600	Enhancers	NHDF-Ad	bronchial
12	chr9:16915200-16915400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16915200-16915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:16915200-16915800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:16915400-16915800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:16915400-16915800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:16915400-16915800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16915400-16915800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:16915400-16915800	Enhancers	Psoas Muscle	Psoas
20	chr9:16915400-16915800	Enhancers	HSMM	muscle
21	chr9:16915800-16918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:16915800-16921600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:16915800-16923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:16915800-16928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:16916400-16916600	Enhancers	Right Atrium	heart
26	chr9:16918600-16919600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:16918800-16919000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:16919000-16919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:16919400-16919800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:16919600-16920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:16921600-16922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:16921600-16922200	Enhancers	NHDF-Ad	bronchial
33	chr9:16921600-16922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:16921600-16923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:16921800-16922000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr9:16921800-16922000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr9:16921800-16922200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr9:16921800-16922200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:16921800-16922200	Enhancers	A549	lung
40	chr9:16921800-16922200	Enhancers	NHEK	skin
41	chr9:16921800-16922200	Enhancers	Osteobl	bone
42	chr9:16921800-16922400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr9:16922200-16924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:16922400-16923400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:16922800-16923800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:16923400-16924000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:16923600-16924000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:16923600-16925200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:16923800-16924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:16923800-16927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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