Variant report

Variant	nsv516680
Chromosome Location	chr9:93116944-93138600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45185888..45187495-chr9:93118658..93120159,2	K562	blood:
2	chr17:57914932..57916732-chr9:93116621..93119481,2	MCF-7	breast:
3	chr9:93103277..93106203-chr9:93118468..93120864,2	MCF-7	breast:
4	chr1:45195117..45197029-chr9:93118640..93120158,2	K562	blood:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000200169	chromatin interactions

Extended variants
information (count: 633 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:633 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1777036	chr9:93116944-93116945	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561467208	chr9:93117030-93117031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530362266	chr9:93117054-93117055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576365897	chr9:93117084-93117085	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs199865961	chr9:93117114-93117115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540719991	chr9:93117140-93117141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560600829	chr9:93117142-93117143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532380009	chr9:93117160-93117161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552561781	chr9:93117192-93117193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569022071	chr9:93117197-93117198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192119870	chr9:93117249-93117250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548033170	chr9:93117272-93117273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567911287	chr9:93117283-93117284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533779265	chr9:93117291-93117292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1777035	chr9:93117315-93117316	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143321552	chr9:93117368-93117369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138710613	chr9:93117378-93117379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369298913	chr9:93117381-93117382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539026846	chr9:93117437-93117438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556142876	chr9:93117453-93117454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575810203	chr9:93117467-93117468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544882729	chr9:93117493-93117494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs66488909	chr9:93117510-93117511	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72741376	chr9:93117511-93117512	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561382821	chr9:93117519-93117520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2771081	chr9:93117585-93117586	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs74327934	chr9:93117619-93117620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532660841	chr9:93117625-93117626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73498449	chr9:93117637-93117638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562909993	chr9:93117699-93117700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531648125	chr9:93117711-93117712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548075052	chr9:93117745-93117746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563558802	chr9:93117749-93117750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183575742	chr9:93117757-93117758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12551767	chr9:93117777-93117778	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547202421	chr9:93117817-93117818	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570181893	chr9:93117819-93117820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539520328	chr9:93117906-93117907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556029084	chr9:93117909-93117910	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552191673	chr9:93117926-93117927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370117570	chr9:93117953-93117954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569633033	chr9:93117966-93117967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188508046	chr9:93117971-93117972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2798041	chr9:93118024-93118025	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575227586	chr9:93118098-93118099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372900603	chr9:93118119-93118120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534362566	chr9:93118221-93118222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76845094	chr9:93118319-93118320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2771080	chr9:93118325-93118326	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs567845906	chr9:93118474-93118475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93125000-93131200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:93125200-93126000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:93127800-93128200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:93130200-93130400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:93130200-93132200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:93130600-93131200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:93130600-93132200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:93130600-93132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:93131200-93131600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:93131200-93131600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:93131200-93131800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:93131200-93132200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:93131200-93132400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:93131400-93131800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:93131400-93131800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:93131600-93132400	Enhancers	Brain Germinal Matrix	brain
17	chr9:93131800-93141600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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