Variant report

Variant	nsv540181
Chromosome Location	chr9:104611014-104805388
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:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
2	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
3	chr9:104707981..104710743-chr9:104711149..104712879,2	K562	blood:
4	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
5	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
6	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
7	chr9:104602976..104605098-chr9:104654861..104656583,2	K562	blood:
8	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
9	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
10	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
11	chr9:104662236..104665131-chr9:104665548..104668439,2	K562	blood:
12	chr9:104712078..104714404-chr9:104717443..104718985,2	K562	blood:
13	chr9:104703090..104705673-chr9:104707089..104708983,2	MCF-7	breast:
14	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
15	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
16	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
17	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
18	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
19	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
20	chr10:26587616..26588136-chr9:104616741..104617261,2	MCF-7	breast:
21	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
22	chr10:86116689..86117545-chr9:104638316..104638864,2	MCF-7	breast:
23	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
24	chr9:104719927..104722291-chr9:104723715..104725489,2	K562	blood:
25	chr9:104626627..104628605-chr9:104630406..104631919,2	K562	blood:
26	chr9:104628351..104631183-chr9:104634996..104637004,2	K562	blood:
27	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
28	chr9:104618154..104619898-chr9:104623303..104626288,2	K562	blood:
29	chr9:104554048..104554859-chr9:104734774..104735456,4	MCF-7	breast:
30	chr9:104651692..104653674-chr9:104654831..104656536,3	K562	blood:
31	chr9:104656494..104659292-chr9:104659378..104660947,2	K562	blood:
32	chr9:104658581..104661092-chr9:104661771..104663841,2	K562	blood:
33	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
34	chr9:104662236..104665131-chr9:104665548..104668439,2	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: 2735 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2735 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538539613	chr9:104611030-104611031	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556545151	chr9:104611064-104611065	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531757719	chr9:104611094-104611095	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551940828	chr9:104611172-104611173	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188876932	chr9:104611213-104611214	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374389465	chr9:104611274-104611275	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534407505	chr9:104611288-104611289	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547745524	chr9:104611289-104611290	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181625820	chr9:104611325-104611326	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186235238	chr9:104611346-104611347	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs74632876	chr9:104611348-104611349	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76114026	chr9:104611460-104611461	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61129599	chr9:104611466-104611467	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538396914	chr9:104611533-104611534	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558631264	chr9:104611560-104611561	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189897070	chr9:104611564-104611565	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144463088	chr9:104611579-104611580	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542012788	chr9:104611594-104611595	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561148479	chr9:104611690-104611691	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs386736885	chr9:104611757-104611758	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1361101	chr9:104611758-104611759	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs180708593	chr9:104611759-104611760	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531739440	chr9:104611789-104611790	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551537478	chr9:104611798-104611799	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7045661	chr9:104611837-104611838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370620320	chr9:104611852-104611853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60345570	chr9:104611892-104611893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547620088	chr9:104611915-104611916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186084897	chr9:104611916-104611917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576924474	chr9:104611952-104611953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190023212	chr9:104611963-104611964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7030190	chr9:104612039-104612040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569272168	chr9:104612043-104612044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538635143	chr9:104612058-104612059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558332610	chr9:104612059-104612060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562615550	chr9:104612109-104612110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76411310	chr9:104612128-104612129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529725444	chr9:104612140-104612141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534493889	chr9:104612178-104612179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183344412	chr9:104612267-104612268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112473419	chr9:104612301-104612302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374523115	chr9:104612348-104612349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574774130	chr9:104612351-104612352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139843406	chr9:104612358-104612359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543699674	chr9:104612365-104612366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536579436	chr9:104612389-104612390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151117114	chr9:104612396-104612397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117653800	chr9:104612398-104612399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150219108	chr9:104625631-104625632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369156429	chr9:104625640-104625641	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104610000-104612400	Enhancers	Fetal Intestine Large	intestine
2	chr9:104610000-104612400	Enhancers	Fetal Intestine Small	intestine
3	chr9:104610400-104611200	Enhancers	Adipose Nuclei	Adipose
4	chr9:104610600-104611200	Flanking Active TSS	K562	blood
5	chr9:104610600-104611400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr9:104610600-104611800	Enhancers	Fetal Lung	lung
7	chr9:104610800-104611200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:104610800-104611200	Enhancers	Fetal Heart	heart
9	chr9:104610800-104611400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:104610800-104611400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:104610800-104611400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:104610800-104611600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr9:104610800-104612200	Enhancers	HepG2	liver
14	chr9:104611000-104611400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr9:104611000-104611400	Enhancers	Rectal Smooth Muscle	rectum
16	chr9:104611000-104611800	Active TSS	Colonic Mucosa	Colon
17	chr9:104611000-104611800	Enhancers	Colon Smooth Muscle	Colon
18	chr9:104611200-104611600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:104611200-104611800	Enhancers	K562	blood
20	chr9:104611400-104612000	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:104611600-104611800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr9:104611800-104612200	Enhancers	Colonic Mucosa	Colon
23	chr9:104625600-104626000	Enhancers	Colon Smooth Muscle	Colon
24	chr9:104625600-104626000	Enhancers	Spleen	Spleen
25	chr9:104625800-104626000	Enhancers	Lung	lung
26	chr9:104626600-104626800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:104627400-104627600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:104637600-104638000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:104637600-104638400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:104637600-104638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:104637800-104638200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:104637800-104638800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:104638000-104638800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:104638200-104638800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr9:104638800-104643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:104638800-104643200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:104640600-104641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:104642000-104642200	Enhancers	K562	blood
39	chr9:104643200-104644000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:104643200-104644000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:104643800-104644200	Enhancers	K562	blood
42	chr9:104647200-104648000	Enhancers	Fetal Intestine Small	intestine
43	chr9:104648000-104651400	Weak transcription	Fetal Intestine Small	intestine
44	chr9:104651400-104652400	Enhancers	Fetal Intestine Small	intestine
45	chr9:104652400-104654800	Weak transcription	Fetal Intestine Small	intestine
46	chr9:104654800-104660800	Enhancers	Fetal Intestine Small	intestine
47	chr9:104655000-104660800	Enhancers	Fetal Intestine Large	intestine
48	chr9:104655400-104657000	Enhancers	Liver	Liver
49	chr9:104655800-104656000	Enhancers	K562	blood
50	chr9:104655800-104656800	Enhancers	Duodenum Mucosa	Duodenum

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