Variant report

Variant	nsv614972
Chromosome Location	chr9:104605562-104658851
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
2	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
3	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
4	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
5	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
6	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
7	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
8	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
9	chr9:104600370..104602657-chr9:104607856..104609607,2	K562	blood:
10	chr10:86116689..86117545-chr9:104638316..104638864,2	MCF-7	breast:
11	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
12	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
13	chr10:26587616..26588136-chr9:104616741..104617261,2	MCF-7	breast:
14	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF20-2	chr9:104654473-104654712	XLOC_007493
2	lnc-RNF20-2	chr9:104652669-104652689	XLOC_007493

No data

Extended variants
information (count: 1041 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7031164	chr9:104605562-104605563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535832359	chr9:104605568-104605569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547659813	chr9:104605623-104605624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565961225	chr9:104605633-104605634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1555460	chr9:104605646-104605647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534457055	chr9:104605652-104605653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111580827	chr9:104605722-104605723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574500282	chr9:104605725-104605726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570926949	chr9:104605784-104605785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34369564	chr9:104605823-104605824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34814803	chr9:104605824-104605825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543663943	chr9:104605860-104605861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75683331	chr9:104605893-104605894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375839213	chr9:104605951-104605952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577244731	chr9:104605972-104605973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1555459	chr9:104605977-104605978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1555458	chr9:104606005-104606006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568919245	chr9:104606017-104606018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547534506	chr9:104606019-104606020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139880413	chr9:104606025-104606026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374670039	chr9:104606059-104606060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114558899	chr9:104606075-104606076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143843588	chr9:104606094-104606095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536489026	chr9:104606099-104606100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184343601	chr9:104606104-104606105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552139515	chr9:104606147-104606148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531481302	chr9:104606170-104606171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565496876	chr9:104606190-104606191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534612304	chr9:104606201-104606202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370679051	chr9:104606289-104606290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536529848	chr9:104606339-104606340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189145293	chr9:104606352-104606353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146873787	chr9:104606359-104606360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554339092	chr9:104606398-104606399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555144041	chr9:104606404-104606405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113556971	chr9:104606407-104606408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11791074	chr9:104606424-104606425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181034346	chr9:104606437-104606438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577207769	chr9:104606480-104606481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185478277	chr9:104606521-104606522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559607544	chr9:104606585-104606586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190726819	chr9:104606605-104606606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541439844	chr9:104606637-104606638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561192110	chr9:104606659-104606660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530169325	chr9:104606713-104606714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549957891	chr9:104606720-104606721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4742830	chr9:104606728-104606729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1337688	chr9:104606734-104606735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552545722	chr9:104606736-104606737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144530911	chr9:104606746-104606747	Enhancers 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
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104604200-104610200	Weak transcription	K562	blood
2	chr9:104606600-104607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:104606800-104607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:104607600-104608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:104610000-104610600	Enhancers	Duodenum Mucosa	Duodenum
6	chr9:104610000-104612400	Enhancers	Fetal Intestine Large	intestine
7	chr9:104610000-104612400	Enhancers	Fetal Intestine Small	intestine
8	chr9:104610200-104610600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr9:104610200-104610600	Enhancers	K562	blood
10	chr9:104610400-104610600	Enhancers	Colonic Mucosa	Colon
11	chr9:104610400-104610600	Enhancers	Colon Smooth Muscle	Colon
12	chr9:104610400-104610800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr9:104610400-104610800	Enhancers	Small Intestine	intestine
14	chr9:104610400-104611000	Enhancers	Fetal Muscle Trunk	muscle
15	chr9:104610400-104611200	Enhancers	Adipose Nuclei	Adipose
16	chr9:104610600-104610800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr9:104610600-104610800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr9:104610600-104610800	Active TSS	Rectal Smooth Muscle	rectum
19	chr9:104610600-104611000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr9:104610600-104611000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr9:104610600-104611200	Flanking Active TSS	K562	blood
22	chr9:104610600-104611400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr9:104610600-104611800	Enhancers	Fetal Lung	lung
24	chr9:104610800-104611000	Active TSS	Duodenum Mucosa	Duodenum
25	chr9:104610800-104611000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr9:104610800-104611200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:104610800-104611200	Enhancers	Fetal Heart	heart
28	chr9:104610800-104611400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:104610800-104611400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:104610800-104611400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:104610800-104611600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr9:104610800-104612200	Enhancers	HepG2	liver
33	chr9:104611000-104611400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr9:104611000-104611400	Enhancers	Rectal Smooth Muscle	rectum
35	chr9:104611000-104611800	Active TSS	Colonic Mucosa	Colon
36	chr9:104611000-104611800	Enhancers	Colon Smooth Muscle	Colon
37	chr9:104611200-104611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:104611200-104611800	Enhancers	K562	blood
39	chr9:104611400-104612000	Enhancers	Duodenum Mucosa	Duodenum
40	chr9:104611600-104611800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr9:104611800-104612200	Enhancers	Colonic Mucosa	Colon
42	chr9:104625600-104626000	Enhancers	Colon Smooth Muscle	Colon
43	chr9:104625600-104626000	Enhancers	Spleen	Spleen
44	chr9:104625800-104626000	Enhancers	Lung	lung
45	chr9:104626600-104626800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:104627400-104627600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:104637600-104638000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:104637600-104638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:104637600-104638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:104637800-104638200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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