Variant report

Variant	esv3364437
Chromosome Location	chr9:43315556-43393304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:266)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:266 , 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	chr9:43391498-43391789	GM12878	blood:	n/a	n/a
2	BATF	chr9:43393230-43393466	GM12878	blood:	n/a	n/a
3	BATF	chr9:43374503-43374725	GM12878	blood:	n/a	n/a
4	BATF	chr9:43369194-43369353	GM12878	blood:	n/a	n/a
5	BATF	chr9:43393256-43393475	GM12878	blood:	n/a	n/a
6	BATF	chr9:43391601-43391805	GM12878	blood:	n/a	n/a
7	BATF	chr9:43380711-43381300	GM12878	blood:	n/a	n/a
8	BATF	chr9:43380741-43381310	GM12878	blood:	n/a	n/a
9	BATF	chr9:43392171-43392418	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:43374447-43374685	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43368498-43368743	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43380710-43381295	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43393221-43393463	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:43392237-43392400	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:43380719-43381302	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:43374467-43374767	GM12878	blood:	n/a	n/a
17	CTCF	chr9:43341363-43341597	K562	blood:	n/a	n/a
18	CTCF	chr9:43343822-43343879	GM10266	blood:	n/a	n/a
19	CTCF	chr9:43392340-43392490	BJ	skin:	n/a	n/a
20	CTCF	chr9:43392215-43392441	A549	lung:	n/a	n/a
21	CTCF	chr9:43392327-43392393	A549	lung:	n/a	n/a
22	CTCF	chr9:43374849-43375158	A549	lung:	n/a	n/a
23	CTCF	chr9:43392204-43392508	IMR90	lung:	n/a	n/a
24	CTCF	chr9:43392360-43392510	GM12878	blood:	n/a	n/a
25	CTCF	chr9:43341417-43341534	Fibrobl	skin:	n/a	n/a
26	CTCF	chr9:43392380-43392530	A549	lung:	n/a	n/a
27	CTCF	chr9:43341390-43341591	HepG2	liver:	n/a	n/a
28	CTCF	chr9:43392360-43392510	GM06990	blood:	n/a	n/a
29	CTCF	chr9:43341378-43341462	Lung_OC	lung:	n/a	n/a
30	CTCF	chr9:43335382-43335606	K562	blood:	n/a	n/a
31	CTCF	chr9:43341364-43341622	GM10248	blood:	n/a	n/a
32	CTCF	chr9:43392735-43392833	GM10248	blood:	n/a	n/a
33	CTCF	chr9:43392340-43392490	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:43341408-43341577	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr9:43341394-43341583	NHEK	skin:	n/a	n/a
36	CTCF	chr9:43392340-43392490	GM12873	blood:	n/a	n/a
37	CTCF	chr9:43321004-43321125	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:43392384-43392387	K562	blood:	n/a	n/a
39	CTCF	chr9:43392320-43392470	GM06990	blood:	n/a	n/a
40	CTCF	chr9:43341987-43342057	GM10266	blood:	n/a	n/a
41	CTCF	chr9:43341411-43341567	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr9:43325974-43326076	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr9:43392380-43392530	GM12864	blood:	n/a	n/a
44	CTCF	chr9:43392200-43392403	K562	blood:	n/a	n/a
45	CTCF	chr9:43323336-43323368	Lung_OC	lung:	n/a	n/a
46	CTCF	chr9:43341355-43341619	Medullo	brain:	n/a	n/a
47	CTCF	chr9:43392380-43392530	RPTEC	kidney:	n/a	n/a
48	CTCF	chr9:43341776-43341857	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr9:43341327-43341614	K562	blood:	n/a	n/a
50	CTCF	chr9:43388278-43388280	GM10248	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357
2	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357

No data

Variant related genes	Relation type
ENSG00000224828	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587678829	chr9:43315556-43315557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587764174	chr9:43315563-43315564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189834672	chr9:43315578-43315579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587672496	chr9:43315601-43315602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587724296	chr9:43315625-43315626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2321346	chr9:43315634-43315635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2321347	chr9:43315640-43315641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111290743	chr9:43315643-43315644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587747022	chr9:43315655-43315656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374686445	chr9:43315659-43315660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77283098	chr9:43315661-43315662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79071592	chr9:43315662-43315663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2321348	chr9:43315678-43315679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587702251	chr9:43315769-43315770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587757249	chr9:43315830-43315831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34379144	chr9:43315868-43315869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587651391	chr9:43315869-43315870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368061589	chr9:43315892-43315893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587690403	chr9:43315917-43315918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371517896	chr9:43315927-43315928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587744642	chr9:43315928-43315929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369439159	chr9:43315966-43315967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587668623	chr9:43315981-43315982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147856331	chr9:43315995-43315996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2874508	chr9:43315996-43315997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187008718	chr9:43316010-43316011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62555582	chr9:43316011-43316012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200755902	chr9:43316017-43316018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190693539	chr9:43316019-43316020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587738102	chr9:43316022-43316023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587598835	chr9:43316025-43316026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587667688	chr9:43316027-43316028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377753891	chr9:43316051-43316052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587603954	chr9:43316075-43316076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1932695	chr9:43316076-43316077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587667172	chr9:43316082-43316083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138292198	chr9:43316090-43316091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587746810	chr9:43316098-43316099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587622476	chr9:43316116-43316117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587704220	chr9:43316120-43316121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2321349	chr9:43316132-43316133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587732131	chr9:43316136-43316137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587613841	chr9:43316138-43316139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587687275	chr9:43316147-43316148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183561040	chr9:43316156-43316157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587645960	chr9:43316160-43316161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188293886	chr9:43316178-43316179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587774294	chr9:43316189-43316190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587662022	chr9:43316194-43316195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587693476	chr9:43320794-43320795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Colorectal cancer	16272173	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
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43314800-43315800	Weak transcription	Fetal Brain Male	brain
2	chr9:43315400-43316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:43315400-43316000	Enhancers	NHEK	skin
4	chr9:43316000-43316200	Enhancers	Fetal Brain Male	brain
5	chr9:43376600-43377400	Enhancers	Primary B cells from peripheral blood	blood

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