Variant report

Variant	nsv893281
Chromosome Location	chr9:43701686-43998470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:431)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:43939526-43939892	K562	blood:	n/a	n/a
2	ATF3	chr9:43939586-43939712	K562	blood:	n/a	n/a
3	BATF	chr9:43875937-43876220	GM12878	blood:	n/a	n/a
4	BATF	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
5	BATF	chr9:43925013-43925176	GM12878	blood:	n/a	n/a
6	BATF	chr9:43875906-43876190	GM12878	blood:	n/a	n/a
7	BATF	chr9:43844088-43844411	GM12878	blood:	n/a	n/a
8	BATF	chr9:43837850-43838056	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:43844085-43844366	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:43844098-43844299	GM12878	blood:	n/a	n/a
11	BHLHE40	chr9:43939524-43939737	K562	blood:	n/a	n/a
12	CBX3	chr9:43915313-43915517	K562	blood:	n/a	n/a
13	CBX3	chr9:43915286-43915658	K562	blood:	n/a	n/a
14	CEBPB	chr9:43850243-43850452	HepG2	liver:	n/a	chr9:43850297-43850308
15	CEBPB	chr9:43850248-43850449	K562	blood:	n/a	chr9:43850297-43850308
16	CEBPB	chr9:43850238-43850436	A549	lung:	n/a	chr9:43850297-43850308
17	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
18	CEBPD	chr9:43939449-43939908	K562	blood:	n/a	n/a
19	CTCF	chr9:43709921-43709984	GM13976	blood:	n/a	n/a
20	CTCF	chr9:43844300-43844450	GM12871	blood:	n/a	n/a
21	CTCF	chr9:43816679-43816743	Fibrobl	skin:	n/a	n/a
22	CTCF	chr9:43736718-43736777	Lung_OC	lung:	n/a	n/a
23	CTCF	chr9:43915350-43915547	GM10266	blood:	n/a	n/a
24	CTCF	chr9:43743866-43743941	A549	lung:	n/a	n/a
25	CTCF	chr9:43859780-43859930	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr9:43939815-43939928	GM20000	blood:	n/a	n/a
27	CTCF	chr9:43744081-43744089	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr9:43732082-43732116	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr9:43844300-43844450	GM12866	blood:	n/a	n/a
30	CTCF	chr9:43764799-43764915	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr9:43872391-43872497	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:43843967-43843999	LNCaP	prostate:	n/a	n/a
33	CTCF	chr9:43844260-43844410	HCFaa	heart:	n/a	n/a
34	CTCF	chr9:43748042-43748102	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr9:43797316-43797456	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr9:43900526-43900564	Medullo	brain:	n/a	n/a
37	CTCF	chr9:43872300-43872450	HCFaa	heart:	n/a	n/a
38	CTCF	chr9:43809104-43809122	A549	lung:	n/a	n/a
39	CTCF	chr9:43749105-43749155	GM13977	blood:	n/a	n/a
40	CTCF	chr9:43915317-43915582	LNCaP	prostate:	n/a	n/a
41	CTCF	chr9:43713803-43713920	LNCaP	prostate:	n/a	chr9:43713911-43713918
42	CTCF	chr9:43844300-43844450	HVMF	connective:	n/a	n/a
43	CTCF	chr9:43789914-43790084	NHEK	skin:	n/a	n/a
44	CTCF	chr9:43915208-43915261	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr9:43743917-43744076	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr9:43844114-43844380	GM10266	blood:	n/a	n/a
47	CTCF	chr9:43721666-43721688	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr9:43915290-43915584	LNCaP	prostate:	n/a	n/a
49	CTCF	chr9:43713052-43713091	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr9:43789917-43790054	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:43860027-43860077	A549	lung:	n/a
2	chr9:43915234-43915284	HepG2	liver:	n/a
3	chr9:43860027-43860077	HMEC	breast:	n/a
4	chr9:43915234-43915284	HCT-116	colon:	n/a
5	chr9:43860027-43860077	HUVEC	blood vessel:	n/a
6	chr9:43860965-43861015	HRCEpiC	kidney:	n/a
7	chr9:43915234-43915284	AoSMC	blood vessel:	n/a
8	chr9:43860965-43861015	HEEpiC	esophagus:	n/a
9	chr9:43915234-43915284	H1-hESC	embryonic stem cell:	embryo
10	chr9:43860027-43860077	HRPEpiC	eye:	n/a
11	chr9:43860027-43860077	IMR90	lung:	fetal
12	chr9:43860027-43860077	SK-N-MC	brain:	n/a
13	chr9:43860965-43861015	SK-N-MC	brain:	n/a
14	chr9:43860027-43860077	T-47D	breast:	n/a
15	chr9:43915234-43915284	NB4	blood:	n/a
16	chr9:43915234-43915284	HEEpiC	esophagus:	n/a
17	chr9:43860027-43860077	U87	brain:	n/a
18	chr9:43915234-43915284	Caco-2	colon:	n/a
19	chr9:43860027-43860077	SK-N-SH_RA	brain:	n/a
20	chr9:43915234-43915284	AG09319	gingival:	n/a
21	chr9:43860965-43861015	ECC-1	luminal epithelium:	n/a
22	chr9:43860027-43860077	HCM	heart:	n/a
23	chr9:43860027-43860077	HepG2	liver:	n/a
24	chr9:43860965-43861015	HUVEC	blood vessel:	n/a
25	chr9:43860027-43860077	PFSK-1	brain:	n/a
26	chr9:43915234-43915284	AG04449	skin:	fetal
27	chr9:43915234-43915284	HEK293	kidney:	embryo
28	chr9:43915234-43915284	K562	blood:	n/a
29	chr9:43915234-43915284	GM19239	blood:	n/a
30	chr9:43860027-43860077	RPTEC	kidney:	n/a
31	chr9:43915234-43915284	ECC-1	luminal epithelium:	n/a
32	chr9:43915234-43915284	IMR90	lung:	fetal
33	chr9:43860965-43861015	HCM	heart:	n/a
34	chr9:43915234-43915284	SAEC	small airway:	n/a
35	chr9:43860027-43860077	ProgFib	skin:	n/a
36	chr9:43860965-43861015	HRPEpiC	eye:	n/a
37	chr9:43860965-43861015	HMEC	breast:	n/a
38	chr9:43860965-43861015	SK-N-SH	brain:	n/a
39	chr9:43860027-43860077	HEEpiC	esophagus:	n/a
40	chr9:43915234-43915284	GM12878	blood:	n/a
41	chr9:43860965-43861015	PANC-1	pancreas:	n/a
42	chr9:43915234-43915284	HCM	heart:	n/a
43	chr9:43860027-43860077	HRE	kidney:	n/a
44	chr9:43860027-43860077	HL-60	blood:	n/a
45	chr9:43860027-43860077	HNPCEpiC	eye:	n/a
46	chr9:43860965-43861015	ProgFib	skin:	n/a
47	chr9:43915234-43915284	LNCaP	prostate:	n/a
48	chr9:43860027-43860077	PANC-1	pancreas:	n/a
49	chr9:43860027-43860077	HAEpiC	amniotic membrane:	n/a
50	chr9:43860965-43861015	SK-N-SH_RA	brain:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-160N1.10.1-8	chr9:43853497-43853563	NONHSAT131364
2	lnc-RP11-160N1.10.1-8	chr9:43844144-43844200	NONHSAT131364
3	lnc-RP11-160N1.10.1-8	chr9:43822729-43822779	NONHSAT131364
4	lnc-FAM75A6-6	chr9:43830636-43831108	NONHSAT131365
5	lnc-RP11-160N1.10.1-8	chr9:43861003-43861206	NONHSAT131364
6	lnc-FAM75A6-6	chr9:43833702-43835037	NONHSAT131365
7	lnc-RP11-160N1.10.1-8	chr9:43828157-43828221	NONHSAT131364
8	lnc-RP11-160N1.10.1-8	chr9:43822613-43822699	NONHSAT131364
9	lnc-FAM75A6-5	chr9:43802781-43803039	NONHSAT131363
10	lnc-RP11-160N1.10.1-8	chr9:43875989-43876034	NONHSAT131364

No data

Variant related genes	Relation type
ENSG00000237207	TF binding region
ENSG00000270909	TF binding region
RN7SL343P	TF binding region
CNN2P4	TF binding region
CNTNAP3B	TF binding region
ENSG00000237207	CpG island
ENSG00000270909	CpG island
RN7SL343P	CpG island
CNN2P4	CpG island
CNTNAP3B	CpG island

Extended variants
information (count: 1413 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555424759	chr9:43701692-43701693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567206903	chr9:43701745-43701746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62558869	chr9:43701803-43701804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563186749	chr9:43701806-43701807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147810864	chr9:43701845-43701846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556419200	chr9:43701868-43701869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577789130	chr9:43701895-43701896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377534885	chr9:43701897-43701898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544787497	chr9:43701910-43701911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372748399	chr9:43701916-43701917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141313434	chr9:43701952-43701953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545021326	chr9:43701969-43701970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572226634	chr9:43701972-43701973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375318027	chr9:43701987-43701988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542662277	chr9:43701992-43701993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561132555	chr9:43701994-43701995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531725142	chr9:43702091-43702092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543810400	chr9:43702095-43702096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565553307	chr9:43702117-43702118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532632980	chr9:43702143-43702144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183304936	chr9:43702151-43702152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566250275	chr9:43702186-43702187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187793027	chr9:43702187-43702188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146993239	chr9:43702195-43702196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138130484	chr9:43702200-43702201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567197145	chr9:43702213-43702214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537825029	chr9:43702214-43702215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191493827	chr9:43702221-43702222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142245507	chr9:43702224-43702225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150167941	chr9:43702233-43702234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28478970	chr9:43702280-43702281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553550603	chr9:43702295-43702296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571866983	chr9:43702296-43702297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71512009	chr9:43702322-43702323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386734654	chr9:43702340-43702341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28520794	chr9:43702342-43702343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370139430	chr9:43702343-43702344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555047015	chr9:43702387-43702388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576388610	chr9:43702422-43702423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71512012	chr9:43702426-43702427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374986911	chr9:43702427-43702428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183646336	chr9:43702459-43702460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372393096	chr9:43702463-43702464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146354518	chr9:43702475-43702476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374764583	chr9:43702483-43702484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369420707	chr9:43702510-43702511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187994147	chr9:43702558-43702559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548832957	chr9:43702607-43702608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28703836	chr9:43702619-43702620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367969865	chr9:43702641-43702642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43687200-43704000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:43700200-43704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:43701600-43704600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:43720000-43720200	Enhancers	Colon Smooth Muscle	Colon
5	chr9:43733600-43734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:43733600-43734200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:43733800-43734000	Enhancers	Lung	lung
8	chr9:43742400-43743200	Enhancers	HUVEC	blood vessel
9	chr9:43783400-43783800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:43795400-43795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:43795400-43795800	Enhancers	HUVEC	blood vessel
12	chr9:43795600-43795800	Enhancers	NH-A	brain
13	chr9:43795600-43796000	Enhancers	HMEC	breast
14	chr9:43823600-43828400	Weak transcription	A549	lung
15	chr9:43824200-43828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:43827800-43850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:43838400-43863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:43844400-43856400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:43845200-43863600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:43845600-43856400	Weak transcription	HUVEC	blood vessel
21	chr9:43858400-43863600	Weak transcription	Adipose Nuclei	Adipose

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