Variant report

Variant	nsv1047080
Chromosome Location	chr9:105432479-105658235
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:
2	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
3	chr9:105445858..105448066-chr9:105448589..105451448,2	K562	blood:
4	chr9:105434186..105435916-chr9:105436513..105438142,2	K562	blood:
5	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:
6	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:
7	chr9:105499591..105502498-chr9:105505347..105508321,2	MCF-7	breast:
8	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
9	chr9:105445858..105448066-chr9:105448589..105451448,2	K562	blood:
10	chr9:105499591..105502498-chr9:105505347..105508321,2	MCF-7	breast:
11	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
12	chr9:105434186..105435916-chr9:105436513..105438142,2	K562	blood:
13	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:

No data

Extended variants
information (count: 2681 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2681 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566376481	chr9:105490609-105490610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568039980	chr9:105490626-105490627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78175835	chr9:105490628-105490629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143248445	chr9:105490631-105490632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575157404	chr9:105490667-105490668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs59027058	chr9:105490739-105490740	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557504506	chr9:105490751-105490752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576943792	chr9:105490764-105490765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75153295	chr9:105490806-105490807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7860191	chr9:105490808-105490809	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546494217	chr9:105490812-105490813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs180719552	chr9:105490857-105490858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7859411	chr9:105490886-105490887	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576711037	chr9:105490951-105490952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148873698	chr9:105491033-105491034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4742854	chr9:105491037-105491038	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs55664823	chr9:105491038-105491039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531182814	chr9:105491080-105491081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs386736963	chr9:105491097-105491098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140859872	chr9:105491098-105491099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533551118	chr9:105491103-105491104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs58742543	chr9:105491129-105491130	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566556610	chr9:105491130-105491131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114422849	chr9:105491132-105491133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548525602	chr9:105491154-105491155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544374969	chr9:105491187-105491188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4742855	chr9:105491202-105491203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557618413	chr9:105491203-105491204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116193193	chr9:105491207-105491208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115282329	chr9:105491268-105491269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376779002	chr9:105491269-105491270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10820257	chr9:105491290-105491291	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10118172	chr9:105491297-105491298	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562033545	chr9:105491320-105491321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369323282	chr9:105491358-105491359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576023466	chr9:105491359-105491360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186025817	chr9:105491403-105491404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564744630	chr9:105491430-105491431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138266184	chr9:105491448-105491449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547160600	chr9:105491449-105491450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559996519	chr9:105491460-105491461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372613317	chr9:105491472-105491473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372065622	chr9:105491506-105491507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528955195	chr9:105491570-105491571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113679456	chr9:105491574-105491575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192176728	chr9:105491587-105491588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537429689	chr9:105491588-105491589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531444428	chr9:105491611-105491612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183303974	chr9:105491620-105491621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12337102	chr9:105491624-105491625	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105490600-105491800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:105491600-105493800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:105499600-105502200	Enhancers	Fetal Heart	heart
4	chr9:105515600-105516400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:105527200-105527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:105527400-105527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:105541000-105541800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:105541000-105542000	Enhancers	Fetal Heart	heart
9	chr9:105541000-105542400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:105541200-105541600	Enhancers	NH-A	brain
11	chr9:105542000-105545600	Weak transcription	Fetal Heart	heart
12	chr9:105545600-105545800	Enhancers	Fetal Heart	heart
13	chr9:105558200-105560000	Enhancers	Fetal Heart	heart
14	chr9:105568400-105569000	Active TSS	Duodenum Mucosa	Duodenum
15	chr9:105568400-105569000	Enhancers	Small Intestine	intestine
16	chr9:105591400-105591600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:105591600-105603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:105602400-105603800	Enhancers	Fetal Intestine Large	intestine
19	chr9:105602400-105606800	Enhancers	Fetal Intestine Small	intestine
20	chr9:105602600-105605200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr9:105602600-105605400	Enhancers	Liver	Liver
22	chr9:105603000-105603200	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:105603200-105603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr9:105603200-105604200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:105603400-105603600	Enhancers	A549	lung
26	chr9:105603400-105603800	Enhancers	Fetal Kidney	kidney
27	chr9:105603400-105605200	Enhancers	HepG2	liver
28	chr9:105603600-105604400	Weak transcription	A549	lung
29	chr9:105603600-105604800	Active TSS	Duodenum Mucosa	Duodenum
30	chr9:105603800-105604200	Weak transcription	Fetal Intestine Large	intestine
31	chr9:105604200-105607800	Enhancers	Fetal Intestine Large	intestine
32	chr9:105604400-105605200	Enhancers	A549	lung
33	chr9:105604800-105605000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:105605000-105607800	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:105605200-105607400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr9:105605600-105605800	Enhancers	Fetal Kidney	kidney
37	chr9:105606400-105607000	Enhancers	Small Intestine	intestine
38	chr9:105607000-105607400	Weak transcription	Small Intestine	intestine
39	chr9:105607400-105607800	Enhancers	Small Intestine	intestine
40	chr9:105607400-105608600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr9:105607800-105608800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:105608600-105608800	Enhancers	Fetal Intestine Small	intestine
43	chr9:105608800-105609000	Enhancers	Duodenum Mucosa	Duodenum
44	chr9:105616800-105617200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:105616800-105619000	Enhancers	Fetal Heart	heart
46	chr9:105617000-105617200	Enhancers	Left Ventricle	heart
47	chr9:105617200-105618000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:105618000-105618800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:105619000-105625400	Weak transcription	Fetal Heart	heart
50	chr9:105625400-105626600	Enhancers	Fetal Heart	heart

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