Variant report

Variant	nsv893629
Chromosome Location	chr9:104563211-104605562
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:2)
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	chr9:104594444..104596154-chr9:104597009..104599073,2	MCF-7	breast:
2	chr9:104594444..104596154-chr9:104597009..104599073,2	MCF-7	breast:
3	chr9:104600370..104602657-chr9:104607856..104609607,2	K562	blood:
4	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF20-4	chr9:104567769-104567808	NONHSAT133752
2	lnc-RNF20-4	chr9:104567913-104568131	NONHSAT133752

No data

Extended variants
information (count: 608 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575449283	chr9:104565219-104565220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544874477	chr9:104565225-104565226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564652614	chr9:104565246-104565247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10989629	chr9:104565285-104565286	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10760811	chr9:104565350-104565351	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373350226	chr9:104567782-104567783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs147544334	chr9:104567784-104567785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs562703442	chr9:104567796-104567797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs59298421	chr9:104567805-104567806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs74609254	chr9:104567806-104567807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs111837930	chr9:104567947-104567948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs112193472	chr9:104567970-104567971	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs140682322	chr9:104567995-104567996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565421606	chr9:104568007-104568008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs11791971	chr9:104568013-104568014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547968035	chr9:104568052-104568053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs77690917	chr9:104568054-104568055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2013563	chr9:104576030-104576031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs558998516	chr9:104576065-104576066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572547319	chr9:104576094-104576095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541553333	chr9:104576096-104576097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146318016	chr9:104576107-104576108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2013601	chr9:104576119-104576120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35781189	chr9:104576143-104576144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2013606	chr9:104576160-104576161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146771390	chr9:104586227-104586228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538583158	chr9:104586251-104586252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188628773	chr9:104586255-104586256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376499932	chr9:104586272-104586273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571249028	chr9:104586285-104586286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540715517	chr9:104586334-104586335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10989638	chr9:104586404-104586405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574180741	chr9:104586442-104586443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543212492	chr9:104586447-104586448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563088235	chr9:104586469-104586470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536522686	chr9:104586474-104586475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550415211	chr9:104586508-104586509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532025571	chr9:104586543-104586544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551814027	chr9:104586555-104586556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568524869	chr9:104586577-104586578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536212572	chr9:104586578-104586579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549741473	chr9:104591818-104591819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562461624	chr9:104591823-104591824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10989639	chr9:104591829-104591830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186514969	chr9:104591855-104591856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115388956	chr9:104591889-104591890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117206762	chr9:104591896-104591897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190972377	chr9:104591918-104591919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182683689	chr9:104591954-104591955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572422215	chr9:104591975-104591976	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
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104565200-104565400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:104576000-104576200	Enhancers	Gastric	stomach
3	chr9:104586200-104586600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:104591800-104598800	Weak transcription	Liver	Liver
5	chr9:104594400-104596000	Enhancers	Fetal Intestine Large	intestine
6	chr9:104594400-104596000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:104595000-104596000	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:104595000-104596000	Enhancers	Fetal Intestine Small	intestine
9	chr9:104595200-104595400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr9:104595400-104598000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:104596000-104598000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:104596000-104598200	Weak transcription	Fetal Intestine Small	intestine
13	chr9:104597200-104599000	Enhancers	K562	blood
14	chr9:104598000-104598400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr9:104598000-104598400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr9:104598200-104598800	Enhancers	Fetal Intestine Small	intestine
17	chr9:104598800-104599000	ZNF genes & repeats	Liver	Liver
18	chr9:104599000-104599400	Weak transcription	Liver	Liver
19	chr9:104599000-104602000	Weak transcription	K562	blood
20	chr9:104602000-104603400	Enhancers	K562	blood
21	chr9:104603200-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:104603400-104604000	Flanking Active TSS	K562	blood
23	chr9:104603400-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:104604000-104604200	Enhancers	K562	blood
25	chr9:104604200-104610200	Weak transcription	K562	blood

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