Variant report

Variant	nsv893441
Chromosome Location	chr9:73486034-73594114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:73490845-73490925	K562	blood:	n/a	n/a
2	ARID3A	chr9:73540004-73540193	K562	blood:	n/a	n/a
3	BACH1	chr9:73489392-73489740	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:73536143-73536470	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:73489389-73489732	K562	blood:	n/a	n/a
6	CEBPB	chr9:73539039-73540243	IMR90	lung:	n/a	chr9:73539926-73539939
7	CEBPB	chr9:73500046-73500261	H1-hESC	embryonic stem cell:	n/a	chr9:73500150-73500161
8	CEBPB	chr9:73557896-73558418	A549	lung:	n/a	chr9:73558316-73558329 chr9:73558316-73558327 chr9:73558318-73558329
9	CEBPB	chr9:73517649-73517924	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr9:73549583-73549920	K562	blood:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
11	CEBPB	chr9:73517569-73518184	IMR90	lung:	n/a	n/a
12	CEBPB	chr9:73493843-73493899	A549	lung:	n/a	n/a
13	CEBPB	chr9:73550979-73551192	IMR90	lung:	n/a	chr9:73551074-73551087 chr9:73551074-73551087
14	CEBPB	chr9:73557840-73558435	HepG2	liver:	n/a	chr9:73558316-73558329 chr9:73558316-73558327 chr9:73558318-73558329
15	CEBPB	chr9:73499976-73500282	Hela-S3	cervix:	n/a	chr9:73500150-73500161
16	CEBPB	chr9:73549591-73549940	H1-hESC	embryonic stem cell:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
17	CEBPB	chr9:73549560-73549906	ECC-1	luminal epithelium:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
18	CEBPB	chr9:73549584-73549929	HepG2	liver:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
19	CEBPB	chr9:73572308-73572508	HepG2	liver:	n/a	chr9:73572402-73572413
20	CEBPB	chr9:73500012-73500288	A549	lung:	n/a	chr9:73500150-73500161
21	CEBPB	chr9:73549589-73549950	A549	lung:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
22	CEBPB	chr9:73499987-73500321	IMR90	lung:	n/a	chr9:73500150-73500161
23	CEBPB	chr9:73499976-73500332	HepG2	liver:	n/a	chr9:73500150-73500161
24	CEBPB	chr9:73549575-73549939	IMR90	lung:	n/a	chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549760-73549769 chr9:73549758-73549769
25	CHD1	chr9:73527729-73527752	GM12878	blood:	n/a	n/a
26	CTCF	chr9:73539940-73540090	MCF-7	breast:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
27	CTCF	chr9:73539900-73540050	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr9:73539904-73540180	GM10266	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
29	CTCF	chr9:73539940-73540090	HCM	heart:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
30	CTCF	chr9:73539930-73540092	GM19238	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
31	CTCF	chr9:73539960-73540110	HMEC	breast:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
32	CTCF	chr9:73539980-73540130	GM12869	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
33	CTCF	chr9:73539980-73540130	AG09309	skin:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
34	CTCF	chr9:73539980-73540130	WI-38	lung:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
35	CTCF	chr9:73517900-73518050	AG10803	skin:	n/a	n/a
36	CTCF	chr9:73539940-73540090	GM12875	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
37	CTCF	chr9:73539926-73540160	Kidney_OC	kidney:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
38	CTCF	chr9:73540020-73540170	K562	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
39	CTCF	chr9:73531268-73531297	LNCaP	prostate:	n/a	n/a
40	CTCF	chr9:73539763-73540308	A549	lung:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
41	CTCF	chr9:73539960-73540110	Caco-2	colon:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
42	CTCF	chr9:73539980-73540130	AoAF	blood vessel:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
43	CTCF	chr9:73539909-73540158	MCF-7	breast:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
44	CTCF	chr9:73539944-73540134	GM13976	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
45	CTCF	chr9:73539960-73540110	HPAF	blood vessel:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
46	CTCF	chr9:73539960-73540110	GM12873	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
47	CTCF	chr9:73539813-73540330	HCT-116	colon:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
48	CTCF	chr9:73517980-73518130	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr9:73539940-73540090	GM12868	blood:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060
50	CTCF	chr9:73539960-73540110	HMF	breast:	n/a	chr9:73540045-73540061 chr9:73540044-73540062 chr9:73540046-73540067 chr9:73540047-73540060

No.	Distal block	Cell Line	Cell type
1	chr9:73539587..73540524-chr9:73864401..73865325,3	K562	blood:
2	chr9:73541049..73541656-chr9:73864349..73864905,2	K562	blood:
3	chr9:73580365..73583283-chr9:73595692..73597303,2	K562	blood:
4	chr9:73539689..73540473-chr9:73864229..73864817,3	MCF-7	breast:
5	chr9:73539136..73540497-chr9:73616477..73617366,8	MCF-7	breast:
6	chr9:73539566..73540528-chr9:73864349..73865391,8	MCF-7	breast:
7	chr9:73542298..73544919-chr9:73545647..73547854,2	MCF-7	breast:
8	chr9:73542298..73544919-chr9:73545647..73547854,2	MCF-7	breast:
9	chr9:73592208..73595932-chr9:73600747..73604403,3	K562	blood:
10	chr9:73539789..73540480-chr9:73863378..73863879,2	MCF-7	breast:
11	chr9:73254988..73255819-chr9:73539510..73540543,3	MCF-7	breast:

Variant related genes	Relation type
TRPM3	TF binding region
PIGUP1	TF binding region

Extended variants
information (count: 3790 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3790 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1337010	chr9:73486034-73486035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540155416	chr9:73486072-73486073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538357625	chr9:73486087-73486088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115841529	chr9:73486111-73486112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565779374	chr9:73486118-73486119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536284545	chr9:73486120-73486121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184290522	chr9:73486134-73486135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574268701	chr9:73486139-73486140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544862444	chr9:73486156-73486157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187837696	chr9:73486159-73486160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554039661	chr9:73486169-73486170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9792509	chr9:73486343-73486344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144066541	chr9:73486370-73486371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146453575	chr9:73486376-73486377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79624074	chr9:73486444-73486445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562611169	chr9:73486482-73486483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537260326	chr9:73486492-73486493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542645815	chr9:73486495-73486496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140858301	chr9:73486512-73486513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561298664	chr9:73486567-73486568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192519902	chr9:73486592-73486593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550000841	chr9:73486595-73486596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557499444	chr9:73486599-73486600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143034079	chr9:73486615-73486616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76244270	chr9:73486621-73486622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115551435	chr9:73486635-73486636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536321609	chr9:73486693-73486694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140405363	chr9:73486694-73486695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569588546	chr9:73486787-73486788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538166670	chr9:73486850-73486851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115990295	chr9:73486851-73486852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150370793	chr9:73486882-73486883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538874531	chr9:73486890-73486891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112461443	chr9:73486903-73486904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184500083	chr9:73486917-73486918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553930875	chr9:73486982-73486983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572220277	chr9:73487009-73487010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545518025	chr9:73487043-73487044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542682260	chr9:73487054-73487055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565125166	chr9:73487065-73487066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138053566	chr9:73487070-73487071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143618095	chr9:73487163-73487164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543451830	chr9:73487176-73487177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546060137	chr9:73487180-73487181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547726873	chr9:73487194-73487195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565214610	chr9:73487253-73487254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532434528	chr9:73487258-73487259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190224180	chr9:73487272-73487273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567964887	chr9:73487279-73487280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147495421	chr9:73487347-73487348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:652 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73484200-73488200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73484200-73488200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:73484200-73488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:73484200-73488400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:73484400-73487600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:73485400-73486600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:73487600-73488400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:73488000-73489800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:73488200-73488400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:73488200-73488400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:73488200-73488400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:73488200-73488800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:73488200-73490000	Enhancers	HSMM	muscle
14	chr9:73488400-73488600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:73488400-73488600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:73488400-73488800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr9:73488400-73489400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:73488400-73489600	Enhancers	NHDF-Ad	bronchial
19	chr9:73488400-73489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:73488400-73494000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:73488600-73488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:73488800-73490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:73488800-73490200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:73489200-73489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:73489200-73489800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:73489400-73489600	Enhancers	HSMMtube	muscle
27	chr9:73489400-73490000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr9:73490600-73490800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr9:73490800-73491800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr9:73491800-73492000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:73492000-73492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:73492800-73494200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:73493600-73495800	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:73493800-73498000	Enhancers	Fetal Heart	heart
35	chr9:73494000-73494200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:73494200-73494600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:73494600-73494800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:73494800-73496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:73495400-73495800	Enhancers	Fetal Intestine Small	intestine
40	chr9:73495800-73496800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:73496000-73497000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:73496200-73496800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:73496200-73497000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr9:73496400-73496800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:73496400-73496800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:73496400-73496800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:73496400-73496800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:73496600-73496800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:73496800-73497000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:73496800-73497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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