Variant report

Variant	nsv614971
Chromosome Location	chr9:104603846-104662585
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
2	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
3	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
4	chr9:104600370..104602657-chr9:104607856..104609607,2	K562	blood:
5	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
6	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
7	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
8	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
9	chr10:86116689..86117545-chr9:104638316..104638864,2	MCF-7	breast:
10	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
11	chr10:26587616..26588136-chr9:104616741..104617261,2	MCF-7	breast:
12	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
13	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
14	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
15	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
16	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
17	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
18	chr9:104626627..104628605-chr9:104630406..104631919,2	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: 1262 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10512291	chr9:104603846-104603847	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183802384	chr9:104603863-104603864	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540961978	chr9:104603864-104603865	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs149194717	chr9:104603931-104603932	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs375686024	chr9:104603935-104603936	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117047061	chr9:104603939-104603940	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12004897	chr9:104603942-104603943	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536381961	chr9:104603952-104603953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570863568	chr9:104603996-104603997	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531340347	chr9:104604023-104604024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55704005	chr9:104604053-104604054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112874851	chr9:104604054-104604055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527574190	chr9:104604057-104604058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146892859	chr9:104604107-104604108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373726538	chr9:104604108-104604109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115267678	chr9:104604149-104604150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554466966	chr9:104604188-104604189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10121422	chr9:104604210-104604211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535814788	chr9:104604227-104604228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140230331	chr9:104604234-104604235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569350446	chr9:104604238-104604239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538385575	chr9:104604252-104604253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558372041	chr9:104604305-104604306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578187120	chr9:104604332-104604333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145282517	chr9:104604366-104604367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150951813	chr9:104604409-104604410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574268891	chr9:104604456-104604457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374534324	chr9:104604481-104604482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556195067	chr9:104604525-104604526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542593265	chr9:104604602-104604603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140762365	chr9:104604606-104604607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192843169	chr9:104604609-104604610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556606113	chr9:104604629-104604630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150118210	chr9:104604637-104604638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373244923	chr9:104604694-104604695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527435461	chr9:104604703-104604704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540892848	chr9:104604772-104604773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543186634	chr9:104604774-104604775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368949638	chr9:104604796-104604797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11790383	chr9:104604812-104604813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184587063	chr9:104604818-104604819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10819998	chr9:104604852-104604853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540679806	chr9:104604880-104604881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138563661	chr9:104604883-104604884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571789962	chr9:104604902-104604903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142806544	chr9:104604909-104604910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147008845	chr9:104604919-104604920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567927902	chr9:104604945-104604946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536590715	chr9:104604993-104604994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72728823	chr9:104605023-104605024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104603200-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:104603400-104604000	Flanking Active TSS	K562	blood
3	chr9:104603400-104604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:104604000-104604200	Enhancers	K562	blood
5	chr9:104604200-104610200	Weak transcription	K562	blood
6	chr9:104606600-104607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:104606800-104607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr9:104607600-104608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:104610000-104610600	Enhancers	Duodenum Mucosa	Duodenum
10	chr9:104610000-104612400	Enhancers	Fetal Intestine Large	intestine
11	chr9:104610000-104612400	Enhancers	Fetal Intestine Small	intestine
12	chr9:104610200-104610600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:104610200-104610600	Enhancers	K562	blood
14	chr9:104610400-104610600	Enhancers	Colonic Mucosa	Colon
15	chr9:104610400-104610600	Enhancers	Colon Smooth Muscle	Colon
16	chr9:104610400-104610800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr9:104610400-104610800	Enhancers	Small Intestine	intestine
18	chr9:104610400-104611000	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:104610400-104611200	Enhancers	Adipose Nuclei	Adipose
20	chr9:104610600-104610800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr9:104610600-104610800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr9:104610600-104610800	Active TSS	Rectal Smooth Muscle	rectum
23	chr9:104610600-104611000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr9:104610600-104611000	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr9:104610600-104611200	Flanking Active TSS	K562	blood
26	chr9:104610600-104611400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr9:104610600-104611800	Enhancers	Fetal Lung	lung
28	chr9:104610800-104611000	Active TSS	Duodenum Mucosa	Duodenum
29	chr9:104610800-104611000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr9:104610800-104611200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:104610800-104611200	Enhancers	Fetal Heart	heart
32	chr9:104610800-104611400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:104610800-104611400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:104610800-104611400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr9:104610800-104611600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:104610800-104612200	Enhancers	HepG2	liver
37	chr9:104611000-104611400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr9:104611000-104611400	Enhancers	Rectal Smooth Muscle	rectum
39	chr9:104611000-104611800	Active TSS	Colonic Mucosa	Colon
40	chr9:104611000-104611800	Enhancers	Colon Smooth Muscle	Colon
41	chr9:104611200-104611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:104611200-104611800	Enhancers	K562	blood
43	chr9:104611400-104612000	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:104611600-104611800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr9:104611800-104612200	Enhancers	Colonic Mucosa	Colon
46	chr9:104625600-104626000	Enhancers	Colon Smooth Muscle	Colon
47	chr9:104625600-104626000	Enhancers	Spleen	Spleen
48	chr9:104625800-104626000	Enhancers	Lung	lung
49	chr9:104626600-104626800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:104627400-104627600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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