Variant report

Variant	nsv1035562
Chromosome Location	chr9:105381107-105420203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:107626313..107626823-chr9:105396083..105396967,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-3	chr9:105405413-105405496	NR_103830
2	lnc-C9orf107-3	chr9:105419558-105419791	NR_103830
3	lnc-C9orf107-3	chr9:105405413-105405496	ENSG00000204250.3
4	lnc-C9orf107-3	chr9:105419558-105419796	ENSG00000204250.3

Extended variants
information (count: 187 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570912742	chr9:105402505-105402506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540075966	chr9:105402547-105402548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372752470	chr9:105402569-105402570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553515394	chr9:105402672-105402673	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62580094	chr9:105402733-105402734	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10656299	chr9:105402739-105402740	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs397764624	chr9:105402751-105402752	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535504800	chr9:105402763-105402764	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536841888	chr9:105402832-105402833	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144977948	chr9:105402834-105402835	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148664649	chr9:105402859-105402860	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573384439	chr9:105402879-105402880	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116220479	chr9:105402885-105402886	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs118001612	chr9:105402890-105402891	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115385204	chr9:105402924-105402925	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs142203862	chr9:105402932-105402933	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185163558	chr9:105402938-105402939	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528595135	chr9:105403057-105403058	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34020431	chr9:105403103-105403104	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562065055	chr9:105403104-105403105	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577529784	chr9:105403118-105403119	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530971005	chr9:105403136-105403137	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550982438	chr9:105403140-105403141	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571193770	chr9:105403268-105403269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373155831	chr9:105403295-105403296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112116755	chr9:105403297-105403298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61086186	chr9:105403322-105403323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567019229	chr9:105403326-105403327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188369753	chr9:105403343-105403344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10990211	chr9:105403347-105403348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531279109	chr9:105403354-105403355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568603890	chr9:105403355-105403356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537482991	chr9:105403364-105403365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180970094	chr9:105403423-105403424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145015839	chr9:105403464-105403465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146814467	chr9:105403523-105403524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115485351	chr9:105403538-105403539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2151259	chr9:105403549-105403550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201006968	chr9:105403564-105403565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140520044	chr9:105403566-105403567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562201641	chr9:105403571-105403572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561501513	chr9:105403589-105403590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79554731	chr9:105403595-105403596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564445055	chr9:105403643-105403644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533471206	chr9:105403647-105403648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150431808	chr9:105403693-105403694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373422107	chr9:105403708-105403709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529532633	chr9:105403724-105403725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187296845	chr9:105403731-105403732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138247002	chr9:105403738-105403739	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
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105402400-105403200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:105402600-105403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:105402600-105403000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:105402600-105403200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:105402600-105403200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:105402600-105403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:105402600-105403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:105402800-105403000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr9:105402800-105403200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:105402800-105403200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:105402800-105403200	Active TSS	A549	lung
12	chr9:105403000-105404600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:105403200-105403600	Enhancers	A549	lung
14	chr9:105403200-105404600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:105403200-105404600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:105403200-105404600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:105403200-105404600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:105403200-105404800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:105403400-105404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:105404200-105405600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr9:105404600-105404800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:105404600-105405000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:105404600-105405200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:105404600-105405600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:105404600-105405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:105404600-105405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:105404600-105406800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:105404800-105405000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:105404800-105405600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:105405000-105406000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:105405200-105405600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr9:105405600-105406600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:105406600-105406800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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