Variant report

Variant	nsv466454
Chromosome Location	chr9:105547307-105593380
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	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
2	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:

Extended variants
information (count: 188 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs188589478	chr9:105558208-105558209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180732356	chr9:105558301-105558302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200973869	chr9:105558356-105558357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556229596	chr9:105558376-105558377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560110230	chr9:105558401-105558402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373027595	chr9:105558404-105558405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66789042	chr9:105558412-105558413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374184982	chr9:105558416-105558417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78705983	chr9:105558451-105558452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185859984	chr9:105558461-105558462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144989060	chr9:105558478-105558479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149094378	chr9:105558479-105558480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143179958	chr9:105558540-105558541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576613250	chr9:105558592-105558593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370961186	chr9:105558594-105558595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568234076	chr9:105558596-105558597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547177058	chr9:105558602-105558603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373859918	chr9:105558606-105558607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151233720	chr9:105558638-105558639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141439673	chr9:105558645-105558646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191153963	chr9:105558657-105558658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113074085	chr9:105558676-105558677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182059582	chr9:105558682-105558683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543002381	chr9:105558712-105558713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561066519	chr9:105558725-105558726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73661997	chr9:105558769-105558770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530015048	chr9:105558800-105558801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370078351	chr9:105558828-105558829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532269425	chr9:105558833-105558834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116152794	chr9:105558855-105558856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565765224	chr9:105558863-105558864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528278473	chr9:105558880-105558881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139055636	chr9:105558900-105558901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113942761	chr9:105558901-105558902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536651449	chr9:105558935-105558936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556244040	chr9:105558938-105558939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570346292	chr9:105558947-105558948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538938775	chr9:105558958-105558959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138744516	chr9:105558982-105558983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150437234	chr9:105559054-105559055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368001087	chr9:105559055-105559056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572341450	chr9:105559074-105559075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187665794	chr9:105559145-105559146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138264320	chr9:105559181-105559182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115086724	chr9:105559240-105559241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569222529	chr9:105559293-105559294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372067594	chr9:105559302-105559303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34779493	chr9:105559347-105559348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73661998	chr9:105559378-105559379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372459323	chr9:105559381-105559382	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105558200-105560000	Enhancers	Fetal Heart	heart
2	chr9:105568400-105569000	Active TSS	Duodenum Mucosa	Duodenum
3	chr9:105568400-105569000	Enhancers	Small Intestine	intestine
4	chr9:105591400-105591600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:105591600-105603200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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