Variant report

Variant	esv3529916
Chromosome Location	chr9:43695456-43849054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43714519-43714714	GM12878	blood:	n/a	n/a
2	BATF	chr9:43844088-43844411	GM12878	blood:	n/a	n/a
3	BATF	chr9:43837850-43838056	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:43844085-43844366	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:43844098-43844299	GM12878	blood:	n/a	n/a
6	CEBPB	chr9:43772398-43772773	A549	lung:	n/a	n/a
7	CTCF	chr9:43717732-43717820	LNCaP	prostate:	n/a	n/a
8	CTCF	chr9:43739254-43739349	A549	lung:	n/a	n/a
9	CTCF	chr9:43844280-43844430	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr9:43816669-43816731	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr9:43844175-43844356	GM20000	blood:	n/a	n/a
12	CTCF	chr9:43713106-43713190	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr9:43844300-43844450	HVMF	connective:	n/a	n/a
14	CTCF	chr9:43843984-43844511	A549	lung:	n/a	n/a
15	CTCF	chr9:43709666-43709770	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr9:43701582-43701614	Lung_OC	lung:	n/a	n/a
17	CTCF	chr9:43844147-43844340	GM13976	blood:	n/a	n/a
18	CTCF	chr9:43767867-43767973	GM10248	blood:	n/a	n/a
19	CTCF	chr9:43760708-43760790	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr9:43844260-43844410	K562	blood:	n/a	n/a
21	CTCF	chr9:43844062-43844553	K562	blood:	n/a	n/a
22	CTCF	chr9:43843967-43843999	LNCaP	prostate:	n/a	n/a
23	CTCF	chr9:43789989-43790010	HepG2	liver:	n/a	n/a
24	CTCF	chr9:43793811-43793895	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr9:43802937-43802993	GM10248	blood:	n/a	n/a
26	CTCF	chr9:43766216-43766233	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr9:43716589-43716662	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:43756361-43756465	LNCaP	prostate:	n/a	n/a
29	CTCF	chr9:43844260-43844410	HCFaa	heart:	n/a	n/a
30	CTCF	chr9:43763936-43764008	GM10248	blood:	n/a	n/a
31	CTCF	chr9:43789934-43790054	A549	lung:	n/a	n/a
32	CTCF	chr9:43844124-43844518	Medullo	brain:	n/a	n/a
33	CTCF	chr9:43737237-43737268	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:43844163-43844350	Lung_OC	lung:	n/a	n/a
35	CTCF	chr9:43733209-43733352	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr9:43795463-43795556	GM10248	blood:	n/a	n/a
37	CTCF	chr9:43816650-43816766	A549	lung:	n/a	n/a
38	CTCF	chr9:43755391-43755488	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr9:43844100-43844428	A549	lung:	n/a	n/a
40	CTCF	chr9:43743917-43744076	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:43844260-43844410	HMF	breast:	n/a	n/a
42	CTCF	chr9:43820041-43820152	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr9:43844114-43844380	GM10266	blood:	n/a	n/a
44	CTCF	chr9:43844260-43844410	GM12875	blood:	n/a	n/a
45	CTCF	chr9:43789946-43790053	K562	blood:	n/a	n/a
46	CTCF	chr9:43748671-43748767	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr9:43721666-43721688	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr9:43764799-43764915	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr9:43844300-43844450	GM12871	blood:	n/a	n/a
50	CTCF	chr9:43712695-43712735	GM13976	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1064 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550104825	chr9:43695632-43695633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571822485	chr9:43695679-43695680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28683087	chr9:43695717-43695718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547686775	chr9:43695747-43695748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566235285	chr9:43695761-43695762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60554805	chr9:43695859-43695860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112688586	chr9:43695911-43695912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536658828	chr9:43695932-43695933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185042838	chr9:43695934-43695935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537819864	chr9:43695947-43695948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558095468	chr9:43696014-43696015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577939087	chr9:43696028-43696029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141079416	chr9:43696029-43696030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560094450	chr9:43696034-43696035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571871149	chr9:43696063-43696064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542756177	chr9:43696086-43696087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561046370	chr9:43696091-43696092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531621435	chr9:43696139-43696140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111308985	chr9:43696149-43696150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549746848	chr9:43696159-43696160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565246865	chr9:43696160-43696161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532713962	chr9:43696170-43696171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199846683	chr9:43696196-43696197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111793406	chr9:43696214-43696215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62558075	chr9:43696215-43696216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536830576	chr9:43696225-43696226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549127735	chr9:43696227-43696228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201363295	chr9:43696232-43696233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202072622	chr9:43696242-43696243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567353232	chr9:43696250-43696251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537906875	chr9:43696254-43696255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555908789	chr9:43696260-43696261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113192888	chr9:43696274-43696275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577521025	chr9:43696275-43696276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538567117	chr9:43696282-43696283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200397884	chr9:43696293-43696294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554027402	chr9:43696311-43696312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113465207	chr9:43696314-43696315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372184295	chr9:43696343-43696344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146652922	chr9:43696347-43696348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28895909	chr9:43696410-43696411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554674770	chr9:43696491-43696492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576141421	chr9:43696497-43696498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190237997	chr9:43696513-43696514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182452009	chr9:43696536-43696537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186897122	chr9:43696561-43696562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532496100	chr9:43696584-43696585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541401238	chr9:43696601-43696602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560084682	chr9:43696606-43696607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530352167	chr9:43696614-43696615	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:20 , 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

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