Variant report

Variant	nsv893284
Chromosome Location	chr9:43713515-43998470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 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	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
4	BATF	chr9:43875906-43876190	GM12878	blood:	n/a	n/a
5	BATF	chr9:43925013-43925176	GM12878	blood:	n/a	n/a
6	BATF	chr9:43875937-43876220	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	chr9:43915286-43915658	K562	blood:	n/a	n/a
13	CBX3	chr9:43915313-43915517	K562	blood:	n/a	n/a
14	CEBPB	chr9:43850248-43850449	K562	blood:	n/a	chr9:43850297-43850308
15	CEBPB	chr9:43850238-43850436	A549	lung:	n/a	chr9:43850297-43850308
16	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
17	CEBPB	chr9:43850243-43850452	HepG2	liver:	n/a	chr9:43850297-43850308
18	CEBPD	chr9:43939449-43939908	K562	blood:	n/a	n/a
19	CTCF	chr9:43767867-43767973	GM10248	blood:	n/a	n/a
20	CTCF	chr9:43815893-43815919	GM13976	blood:	n/a	n/a
21	CTCF	chr9:43743922-43743948	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:43769650-43769705	GM10248	blood:	n/a	n/a
23	CTCF	chr9:43872300-43872450	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr9:43743866-43743941	A549	lung:	n/a	n/a
25	CTCF	chr9:43997649-43998002	K562	blood:	n/a	n/a
26	CTCF	chr9:43746265-43746375	Medullo	brain:	n/a	n/a
27	CTCF	chr9:43843078-43843153	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr9:43779520-43779576	LNCaP	prostate:	n/a	n/a
29	CTCF	chr9:43872413-43872533	LNCaP	prostate:	n/a	n/a
30	CTCF	chr9:43746860-43746888	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr9:43777435-43777550	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:43844127-43844378	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr9:43748671-43748767	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr9:43843997-43844055	GM13977	blood:	n/a	n/a
35	CTCF	chr9:43744147-43744222	GM20000	blood:	n/a	n/a
36	CTCF	chr9:43793811-43793895	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr9:43844260-43844410	GM12875	blood:	n/a	n/a
38	CTCF	chr9:43720802-43720888	GM20000	blood:	n/a	n/a
39	CTCF	chr9:43843967-43843999	LNCaP	prostate:	n/a	n/a
40	CTCF	chr9:43736524-43736638	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:43844086-43844377	K562	blood:	n/a	n/a
42	CTCF	chr9:43820041-43820152	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr9:43789917-43790054	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr9:43730117-43730226	Lung_OC	lung:	n/a	n/a
45	CTCF	chr9:43844300-43844450	BE2_C	brain:	n/a	n/a
46	CTCF	chr9:43737237-43737268	LNCaP	prostate:	n/a	n/a
47	CTCF	chr9:43753523-43753593	Lung_OC	lung:	n/a	n/a
48	CTCF	chr9:43844260-43844410	HMF	breast:	n/a	n/a
49	CTCF	chr9:43799220-43799287	NHEK	skin:	n/a	n/a
50	CTCF	chr9:43997724-43997966	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:43860965-43861015	SKMC	muscle:	n/a
2	chr9:43915234-43915284	MCF-7	breast:	n/a
3	chr9:43860965-43861015	ovcar-3	ovarian:	n/a
4	chr9:43915234-43915284	Jurkat	blood:	n/a
5	chr9:43915234-43915284	GM12878	blood:	n/a
6	chr9:43860027-43860077	SKMC	muscle:	n/a
7	chr9:43915234-43915284	K562	blood:	n/a
8	chr9:43860965-43861015	HRCEpiC	kidney:	n/a
9	chr9:43860965-43861015	SK-N-MC	brain:	n/a
10	chr9:43860965-43861015	NHDF-neo	bronchial:	n/a
11	chr9:43915234-43915284	SKMC	muscle:	n/a
12	chr9:43860965-43861015	MCF10A-Er-Src	breast:	n/a
13	chr9:43915234-43915284	ProgFib	skin:	n/a
14	chr9:43860027-43860077	HCT-116	colon:	n/a
15	chr9:43860027-43860077	GM06990	blood:	n/a
16	chr9:43860965-43861015	NT2-D1	testis:	n/a
17	chr9:43860965-43861015	Hela-S3	cervix:	n/a
18	chr9:43915234-43915284	HCF	heart:	n/a
19	chr9:43860965-43861015	T-47D	breast:	n/a
20	chr9:43860027-43860077	GM12892	blood:	n/a
21	chr9:43860965-43861015	Caco-2	colon:	n/a
22	chr9:43860027-43860077	MCF10A-Er-Src	breast:	n/a
23	chr9:43860027-43860077	A549	lung:	n/a
24	chr9:43860027-43860077	PANC-1	pancreas:	n/a
25	chr9:43860965-43861015	HepG2	liver:	n/a
26	chr9:43860027-43860077	HPAEpiC	pulmonary alveolar:	n/a
27	chr9:43860965-43861015	ECC-1	luminal epithelium:	n/a
28	chr9:43860965-43861015	K562	blood:	n/a
29	chr9:43915234-43915284	HRE	kidney:	n/a
30	chr9:43860027-43860077	Jurkat	blood:	n/a
31	chr9:43860965-43861015	SK-N-SH	brain:	n/a
32	chr9:43860027-43860077	H1-hESC	embryonic stem cell:	embryo
33	chr9:43915234-43915284	NHBE	bronchial:	n/a
34	chr9:43860965-43861015	H1-hESC	embryonic stem cell:	embryo
35	chr9:43860027-43860077	PFSK-1	brain:	n/a
36	chr9:43860965-43861015	NB4	blood:	n/a
37	chr9:43915234-43915284	SAEC	small airway:	n/a
38	chr9:43860027-43860077	AG09309	skin:	n/a
39	chr9:43860965-43861015	LNCaP	prostate:	n/a
40	chr9:43915234-43915284	PANC-1	pancreas:	n/a
41	chr9:43860965-43861015	HIPEpiC	eye:	n/a
42	chr9:43860965-43861015	HRE	kidney:	n/a
43	chr9:43915234-43915284	PFSK-1	brain:	n/a
44	chr9:43915234-43915284	GM06990	blood:	n/a
45	chr9:43915234-43915284	IMR90	lung:	fetal
46	chr9:43860027-43860077	Caco-2	colon:	n/a
47	chr9:43915234-43915284	RPTEC	kidney:	n/a
48	chr9:43860027-43860077	U87	brain:	n/a
49	chr9:43860027-43860077	CMK	blood:	n/a
50	chr9:43860965-43861015	HEEpiC	esophagus:	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	chr9:43828157-43828221	NONHSAT131364
2	lnc-RP11-160N1.10.1-8	chr9:43822613-43822699	NONHSAT131364
3	lnc-RP11-160N1.10.1-8	chr9:43822729-43822779	NONHSAT131364
4	lnc-RP11-160N1.10.1-8	chr9:43844144-43844200	NONHSAT131364
5	lnc-RP11-160N1.10.1-8	chr9:43853497-43853563	NONHSAT131364
6	lnc-FAM75A6-6	chr9:43830636-43831108	NONHSAT131365
7	lnc-RP11-160N1.10.1-8	chr9:43875989-43876034	NONHSAT131364
8	lnc-FAM75A6-6	chr9:43833702-43835037	NONHSAT131365
9	lnc-FAM75A6-5	chr9:43802781-43803039	NONHSAT131363
10	lnc-RP11-160N1.10.1-8	chr9:43861003-43861206	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: 1270 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1270 , 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	rs529039120	chr9:43720003-43720004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181492702	chr9:43720020-43720021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77805259	chr9:43720030-43720031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550691412	chr9:43720064-43720065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201891204	chr9:43720094-43720095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568897845	chr9:43720148-43720149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539426801	chr9:43720160-43720161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551057065	chr9:43720168-43720169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566781548	chr9:43720172-43720173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12000702	chr9:43720192-43720193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562694746	chr9:43733612-43733613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62558912	chr9:43733688-43733689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201390720	chr9:43733723-43733724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386361255	chr9:43733724-43733725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180729239	chr9:43733741-43733742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374902375	chr9:43733756-43733757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185515236	chr9:43733798-43733799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62558913	chr9:43733828-43733829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142561253	chr9:43733843-43733844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368105205	chr9:43733854-43733855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560763173	chr9:43733878-43733879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527863411	chr9:43733891-43733892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372345599	chr9:43733901-43733902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543208052	chr9:43733906-43733907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189931962	chr9:43733929-43733930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140819023	chr9:43733942-43733943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111364654	chr9:43733943-43733944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145915180	chr9:43733974-43733975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117224854	chr9:43733976-43733977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568750983	chr9:43733983-43733984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183852593	chr9:43733994-43733995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368491209	chr9:43734005-43734006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372342711	chr9:43734013-43734014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545538450	chr9:43734034-43734035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28638036	chr9:43734092-43734093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188346644	chr9:43734118-43734119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574932639	chr9:43734141-43734142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533755112	chr9:43734151-43734152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28542093	chr9:43734193-43734194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138716216	chr9:43734195-43734196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537911604	chr9:43734197-43734198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534907339	chr9:43742404-43742405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201090838	chr9:43742412-43742413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3864736	chr9:43742443-43742444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553252978	chr9:43742480-43742481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574665081	chr9:43742494-43742495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542379077	chr9:43742496-43742497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369288309	chr9:43742514-43742515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563823160	chr9:43742546-43742547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575600411	chr9:43742547-43742548	Enhancers	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:18 , 50 per page) page: 1

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

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