Variant report

Variant	nsv893653
Chromosome Location	chr9:105542534-105603760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:
2	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
3	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
4	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:

Extended variants
information (count: 812 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1492602	chr9:105542534-105542535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143513950	chr9:105542573-105542574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550297687	chr9:105542576-105542577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564419732	chr9:105542686-105542687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16922187	chr9:105542709-105542710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545308056	chr9:105542743-105542744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1492603	chr9:105542747-105542748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566636443	chr9:105542758-105542759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534826461	chr9:105542761-105542762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548688339	chr9:105542776-105542777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76091798	chr9:105542798-105542799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537496395	chr9:105542827-105542828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56240533	chr9:105542832-105542833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542692930	chr9:105542847-105542848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56662798	chr9:105542855-105542856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553168060	chr9:105542857-105542858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138724051	chr9:105542858-105542859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545909368	chr9:105542859-105542860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372075320	chr9:105542871-105542872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16922189	chr9:105542918-105542919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531565837	chr9:105542919-105542920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540806721	chr9:105542989-105542990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561855784	chr9:105542991-105542992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575245264	chr9:105543029-105543030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546630351	chr9:105543047-105543048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373948577	chr9:105543077-105543078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564029418	chr9:105543083-105543084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182329572	chr9:105543109-105543110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546886875	chr9:105543156-105543157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187389120	chr9:105543169-105543170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141858464	chr9:105543193-105543194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190448579	chr9:105543233-105543234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78015081	chr9:105543236-105543237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117679073	chr9:105543254-105543255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373590366	chr9:105543284-105543285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377593347	chr9:105543301-105543302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375064335	chr9:105543307-105543308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551746932	chr9:105543311-105543312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72742408	chr9:105543312-105543313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536093112	chr9:105543313-105543314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555633698	chr9:105543331-105543332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532603486	chr9:105543337-105543338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575306691	chr9:105543347-105543348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543937252	chr9:105543404-105543405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369879756	chr9:105543415-105543416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35003990	chr9:105543417-105543418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562216298	chr9:105543434-105543435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183060120	chr9:105543441-105543442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577739662	chr9:105543585-105543586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117417054	chr9:105543594-105543595	Weak transcription	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105542000-105545600	Weak transcription	Fetal Heart	heart
2	chr9:105545600-105545800	Enhancers	Fetal Heart	heart
3	chr9:105558200-105560000	Enhancers	Fetal Heart	heart
4	chr9:105568400-105569000	Active TSS	Duodenum Mucosa	Duodenum
5	chr9:105568400-105569000	Enhancers	Small Intestine	intestine
6	chr9:105591400-105591600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:105591600-105603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:105602400-105603800	Enhancers	Fetal Intestine Large	intestine
9	chr9:105602400-105606800	Enhancers	Fetal Intestine Small	intestine
10	chr9:105602600-105605200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:105602600-105605400	Enhancers	Liver	Liver
12	chr9:105603000-105603200	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:105603200-105603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr9:105603200-105604200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:105603400-105603600	Enhancers	A549	lung
16	chr9:105603400-105603800	Enhancers	Fetal Kidney	kidney
17	chr9:105603400-105605200	Enhancers	HepG2	liver
18	chr9:105603600-105604400	Weak transcription	A549	lung
19	chr9:105603600-105604800	Active TSS	Duodenum Mucosa	Duodenum

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