Variant report

Variant	esv19719
Chromosome Location	chr9:43692021-43842892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43837850-43838056	GM12878	blood:	n/a	n/a
2	BATF	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
3	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
4	CTCF	chr9:43735603-43735679	GM13977	blood:	n/a	n/a
5	CTCF	chr9:43713474-43713597	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr9:43756361-43756465	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:43712695-43712735	GM13976	blood:	n/a	n/a
8	CTCF	chr9:43755894-43755968	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr9:43789917-43790054	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr9:43704998-43705104	GM13976	blood:	n/a	n/a
11	CTCF	chr9:43744871-43744936	GM13977	blood:	n/a	n/a
12	CTCF	chr9:43789934-43790054	A549	lung:	n/a	n/a
13	CTCF	chr9:43764799-43764915	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr9:43718046-43718098	LNCaP	prostate:	n/a	n/a
15	CTCF	chr9:43743866-43743941	A549	lung:	n/a	n/a
16	CTCF	chr9:43693140-43693290	A549	lung:	n/a	n/a
17	CTCF	chr9:43730117-43730226	Lung_OC	lung:	n/a	n/a
18	CTCF	chr9:43721666-43721688	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr9:43816667-43816732	GM12892	blood:	n/a	n/a
20	CTCF	chr9:43777435-43777550	MCF-7	breast:	n/a	n/a
21	CTCF	chr9:43795523-43795611	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr9:43709411-43709457	Medullo	brain:	n/a	n/a
23	CTCF	chr9:43693080-43693230	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr9:43693063-43693259	K562	blood:	n/a	n/a
25	CTCF	chr9:43760708-43760790	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr9:43816669-43816731	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:43766216-43766233	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr9:43693120-43693270	HMEC	breast:	n/a	n/a
29	CTCF	chr9:43692974-43693224	A549	lung:	n/a	n/a
30	CTCF	chr9:43799220-43799287	NHEK	skin:	n/a	n/a
31	CTCF	chr9:43693051-43693313	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr9:43736718-43736777	Lung_OC	lung:	n/a	n/a
33	CTCF	chr9:43767867-43767973	GM10248	blood:	n/a	n/a
34	CTCF	chr9:43809104-43809122	A549	lung:	n/a	n/a
35	CTCF	chr9:43744147-43744222	GM20000	blood:	n/a	n/a
36	CTCF	chr9:43789989-43790010	HepG2	liver:	n/a	n/a
37	CTCF	chr9:43728237-43728253	LNCaP	prostate:	n/a	n/a
38	CTCF	chr9:43744081-43744089	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr9:43728263-43728274	LNCaP	prostate:	n/a	n/a
40	CTCF	chr9:43789972-43790054	LNCaP	prostate:	n/a	n/a
41	CTCF	chr9:43692911-43692972	Lung_OC	lung:	n/a	n/a
42	CTCF	chr9:43743554-43743601	GM20000	blood:	n/a	n/a
43	CTCF	chr9:43693100-43693250	HEK293	kidney:	n/a	n/a
44	CTCF	chr9:43711002-43711097	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr9:43750529-43750608	A549	lung:	n/a	n/a
46	CTCF	chr9:43816679-43816743	Fibrobl	skin:	n/a	n/a
47	CTCF	chr9:43693036-43693250	LNCaP	prostate:	n/a	n/a
48	CTCF	chr9:43709921-43709984	GM13976	blood:	n/a	n/a
49	CTCF	chr9:43733843-43733904	Medullo	brain:	n/a	n/a
50	CTCF	chr9:43717732-43717820	LNCaP	prostate:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-160N1.10.1-8	chr9:43822613-43822699	NONHSAT131364
2	lnc-RP11-160N1.10.1-8	chr9:43828157-43828221	NONHSAT131364
3	lnc-RP11-160N1.10.1-8	chr9:43822729-43822779	NONHSAT131364
4	lnc-FAM75A6-5	chr9:43802781-43803039	NONHSAT131363
5	lnc-FAM75A6-6	chr9:43830636-43831108	NONHSAT131365
6	lnc-FAM75A6-6	chr9:43833702-43835037	NONHSAT131365

No data

Variant related genes	Relation type
ENSG00000237207	TF binding region
ENSG00000270909	TF binding region
RN7SL343P	TF binding region

Extended variants
information (count: 929 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569350381	chr9:43692047-43692048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185635792	chr9:43692201-43692202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539482601	chr9:43692221-43692222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558147197	chr9:43692261-43692262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190490945	chr9:43692269-43692270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28532969	chr9:43692285-43692286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192350868	chr9:43692326-43692327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573943378	chr9:43692354-43692355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376093996	chr9:43692355-43692356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531738106	chr9:43692361-43692362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563079293	chr9:43692401-43692402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184250728	chr9:43692410-43692411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139654376	chr9:43692428-43692429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199708175	chr9:43692452-43692453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188849134	chr9:43692469-43692470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564115619	chr9:43692497-43692498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528037172	chr9:43692498-43692499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147238735	chr9:43692546-43692547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540559112	chr9:43692554-43692555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561958176	chr9:43692563-43692564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529127618	chr9:43692586-43692587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550778765	chr9:43692642-43692643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569037022	chr9:43692643-43692644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113948877	chr9:43692686-43692687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533488672	chr9:43692689-43692690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551537539	chr9:43692707-43692708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566898895	chr9:43692755-43692756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199946374	chr9:43692787-43692788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370509849	chr9:43692823-43692824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181253979	chr9:43692826-43692827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184675336	chr9:43692832-43692833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550156911	chr9:43692841-43692842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567604899	chr9:43692842-43692843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188993073	chr9:43692851-43692852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181702365	chr9:43693080-43693081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578077847	chr9:43693108-43693109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545895978	chr9:43693119-43693120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140713333	chr9:43693160-43693161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144676376	chr9:43693190-43693191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539823892	chr9:43693198-43693199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187271894	chr9:43693244-43693245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28646048	chr9:43693318-43693319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529218588	chr9:43693350-43693351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192125408	chr9:43693380-43693381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28658587	chr9:43693397-43693398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180870329	chr9:43693453-43693454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532942739	chr9:43693481-43693482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71510101	chr9:43693487-43693488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566831088	chr9:43693502-43693503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527720839	chr9:43693519-43693520	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:17 , 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

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