Variant report

Variant	nsv1037741
Chromosome Location	chr9:105293524-105356714
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:105300797..105303534-chr9:105309567..105311333,2	K562	blood:
2	chr9:105300797..105303534-chr9:105309567..105311333,2	K562	blood:
3	chr9:105310562..105312494-chr9:105331384..105333749,2	K562	blood:
4	chr9:105310562..105312494-chr9:105331384..105333749,2	K562	blood:

(count:4 , 50 per page) page: 1

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

No data

Extended variants
information (count: 267 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77024559	chr9:105295895-105295896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112162574	chr9:105295896-105295897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188544971	chr9:105295914-105295915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536687576	chr9:105295926-105295927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556433858	chr9:105295958-105295959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146121026	chr9:105295992-105295993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113871657	chr9:105296011-105296012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538830682	chr9:105296033-105296034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386736945	chr9:105296076-105296077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202073485	chr9:105296078-105296079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572621165	chr9:105296079-105296080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138782918	chr9:105296080-105296081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540721409	chr9:105296081-105296082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199891114	chr9:105296083-105296084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73659498	chr9:105296093-105296094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574342416	chr9:105296095-105296096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10990158	chr9:105296106-105296107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563552943	chr9:105296134-105296135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532484436	chr9:105296139-105296140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185424241	chr9:105296154-105296155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115475936	chr9:105296168-105296169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35875714	chr9:105296181-105296182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60761161	chr9:105296190-105296191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184976261	chr9:105310418-105310419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77433483	chr9:105310438-105310439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550265474	chr9:105310490-105310491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376696981	chr9:105310511-105310512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139324605	chr9:105310573-105310574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs143362053	chr9:105310586-105310587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546525154	chr9:105310587-105310588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566309149	chr9:105310609-105310610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147350457	chr9:105310630-105310631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373617563	chr9:105310639-105310640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117321075	chr9:105310764-105310765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543826147	chr9:105310842-105310843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201407169	chr9:105310843-105310844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574801746	chr9:105310901-105310902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148392584	chr9:105310915-105310916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs557043589	chr9:105310921-105310922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577324468	chr9:105310948-105310949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs367549959	chr9:105310952-105310953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372821022	chr9:105310970-105310971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142513652	chr9:105310983-105310984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74936770	chr9:105339425-105339426	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs12553776	chr9:105339441-105339442	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191968157	chr9:105339447-105339448	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182980257	chr9:105339451-105339452	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534067873	chr9:105339470-105339471	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201226841	chr9:105339495-105339496	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147484588	chr9:105339498-105339499	ZNF genes & repeats Active TSS	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105295800-105296200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:105310400-105311000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:105339400-105339600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:105339400-105339800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr9:105348400-105348600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:105349400-105349600	Enhancers	Fetal Brain Male	brain
7	chr9:105349600-105351400	Weak transcription	Fetal Brain Male	brain
8	chr9:105350400-105350800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:105350800-105351200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:105350800-105353800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:105351200-105352200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:105351400-105351800	Enhancers	Fetal Brain Male	brain
13	chr9:105353000-105353400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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