Variant report

Variant	nsv973460
Chromosome Location	chr9:105326491-105371458
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	chr9:105310562..105312494-chr9:105331384..105333749,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-3	chr9:105348033-105348100	ENSG00000204250.3
2	lnc-C9orf107-3	chr9:105340553-105340678	NR_103830
3	lnc-C9orf107-3	chr9:105348033-105348100	NR_103830
4	lnc-C9orf107-3	chr9:105340553-105340678	ENSG00000204250.3

Extended variants
information (count: 392 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74936770	chr9:105339425-105339426	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12553776	chr9:105339441-105339442	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191968157	chr9:105339447-105339448	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182980257	chr9:105339451-105339452	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534067873	chr9:105339470-105339471	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201226841	chr9:105339495-105339496	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147484588	chr9:105339498-105339499	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34121091	chr9:105339500-105339501	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12553766	chr9:105339515-105339516	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12554038	chr9:105339522-105339523	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567598496	chr9:105339535-105339536	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs2027012	chr9:105339549-105339550	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376372148	chr9:105339558-105339559	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556857027	chr9:105339559-105339560	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200210994	chr9:105339569-105339570	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187886200	chr9:105339572-105339573	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199719724	chr9:105339573-105339574	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199570181	chr9:105339576-105339577	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560995514	chr9:105339593-105339594	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191846671	chr9:105339656-105339657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570366616	chr9:105339665-105339666	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547227828	chr9:105339722-105339723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532263609	chr9:105339760-105339761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9695725	chr9:105339770-105339771	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540798775	chr9:105339797-105339798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs576703985	chr9:105340597-105340598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs41301539	chr9:105340615-105340616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs559111219	chr9:105340637-105340638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs78185063	chr9:105340650-105340651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs41313341	chr9:105340677-105340678	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201470213	chr9:105348073-105348074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs574968782	chr9:105348092-105348093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs550214925	chr9:105348449-105348450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570463343	chr9:105348461-105348462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77037914	chr9:105348569-105348570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72736889	chr9:105348574-105348575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566735728	chr9:105348579-105348580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181817634	chr9:105349504-105349505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186981184	chr9:105349523-105349524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527484906	chr9:105349529-105349530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114829974	chr9:105349540-105349541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138443164	chr9:105349572-105349573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535430227	chr9:105349618-105349619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1332987	chr9:105349626-105349627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538194997	chr9:105349627-105349628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1332986	chr9:105349636-105349637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143994561	chr9:105349642-105349643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540839489	chr9:105349697-105349698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191245983	chr9:105349708-105349709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573810551	chr9:105349749-105349750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105339400-105339600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:105339400-105339800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr9:105348400-105348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:105349400-105349600	Enhancers	Fetal Brain Male	brain
5	chr9:105349600-105351400	Weak transcription	Fetal Brain Male	brain
6	chr9:105350400-105350800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:105350800-105351200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr9:105350800-105353800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:105351200-105352200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:105351400-105351800	Enhancers	Fetal Brain Male	brain
11	chr9:105353000-105353400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:105362000-105362400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:105362400-105363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:105365600-105366000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:105366200-105366600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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