Variant report

Variant	nsv615030
Chromosome Location	chr9:105205117-105258037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:105240078..105241695-chr9:105245746..105248744,2	K562	blood:
2	chr9:105209000..105211941-chr9:105213670..105215992,2	K562	blood:
3	chr9:105240078..105241695-chr9:105245746..105248744,2	K562	blood:
4	chr9:105209000..105211941-chr9:105213670..105215992,2	K562	blood:
5	chr9:105240394..105242498-chr9:105264587..105266535,2	MCF-7	breast:
6	chr1:154968912..154969876-chr9:105204651..105205207,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-4	chr9:105231886-105231995	NONHSAT133765

No data

Extended variants
information (count: 480 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573661353	chr9:105209411-105209412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536254543	chr9:105209431-105209432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs35356757	chr9:105209463-105209464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556390189	chr9:105209467-105209468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576371953	chr9:105209483-105209484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182501411	chr9:105209498-105209499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565505002	chr9:105209506-105209507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572576853	chr9:105209576-105209577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs77736673	chr9:105209584-105209585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560975212	chr9:105209609-105209610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529668362	chr9:105209618-105209619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549847439	chr9:105209629-105209630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78779010	chr9:105209650-105209651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186713205	chr9:105209665-105209666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs61519830	chr9:105209669-105209670	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76432633	chr9:105209680-105209681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534529716	chr9:105209726-105209727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547827669	chr9:105209736-105209737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567422905	chr9:105209748-105209749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536239076	chr9:105209786-105209787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556174874	chr9:105209796-105209797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79229359	chr9:105221029-105221030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79389883	chr9:105221036-105221037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149445638	chr9:105221136-105221137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141674025	chr9:105221168-105221169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536837073	chr9:105221198-105221199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115069188	chr9:105221202-105221203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576593319	chr9:105221252-105221253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376672360	chr9:105221289-105221290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538697573	chr9:105221350-105221351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558689695	chr9:105221382-105221383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572069312	chr9:105221385-105221386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541069946	chr9:105221394-105221395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369122551	chr9:105221401-105221402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116724610	chr9:105221402-105221403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574675451	chr9:105221414-105221415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192103958	chr9:105221417-105221418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563301933	chr9:105221429-105221430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114208570	chr9:105221449-105221450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373040307	chr9:105221467-105221468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143883649	chr9:105221562-105221563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182850268	chr9:105221563-105221564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576795233	chr9:105221567-105221568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12380562	chr9:105221663-105221664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148211321	chr9:105221715-105221716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141224005	chr9:105221743-105221744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536515954	chr9:105221754-105221755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550459807	chr9:105221758-105221759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188324872	chr9:105221803-105221804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147399876	chr9:105221817-105221818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105209400-105209800	ZNF genes & repeats	Pancreas	Pancrea
2	chr9:105221000-105224200	Weak transcription	Aorta	Aorta
3	chr9:105223000-105224200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:105224200-105224400	ZNF genes & repeats	Aorta	Aorta
5	chr9:105241000-105242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:105241600-105242200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:105242200-105245600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:105245600-105246800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:105246400-105247800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:105246800-105247200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:105247200-105247400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:105247200-105247400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:105247400-105247600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:105247400-105248000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:105247600-105249000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:105247800-105248800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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