Variant report

Variant	esv3385868
Chromosome Location	chr9:43094356-43104154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43097243-43097501	GM12878	blood:	n/a	n/a
2	BATF	chr9:43103998-43104331	GM12878	blood:	n/a	chr9:43104053-43104061
3	BATF	chr9:43103941-43104337	GM12878	blood:	n/a	chr9:43104053-43104061
4	BATF	chr9:43101328-43101584	GM12878	blood:	n/a	n/a
5	BATF	chr9:43101367-43101591	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:43103921-43104207	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:43096419-43096696	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:43097708-43097894	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:43103879-43104324	GM12878	blood:	n/a	n/a
10	CTCF	chr9:43099272-43099325	GM10266	blood:	n/a	n/a
11	EBF1	chr9:43104144-43104381	GM12878	blood:	n/a	chr9:43104154-43104163
12	EP300	chr9:43100458-43100810	GM12878	blood:	n/a	n/a
13	GABPA	chr9:43100486-43100616	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr9:43100420-43100693	Hela-S3	cervix:	n/a	n/a
15	GATA2	chr9:43104100-43104349	K562	blood:	n/a	n/a
16	GATA2	chr9:43101605-43101935	K562	blood:	n/a	n/a
17	GATA2	chr9:43102016-43102321	K562	blood:	n/a	chr9:43102174-43102195
18	HEY1	chr9:43100481-43100758	K562	blood:	n/a	n/a
19	IRF4	chr9:43103870-43104360	GM12878	blood:	n/a	chr9:43104160-43104174
20	IRF4	chr9:43103936-43104337	GM12878	blood:	n/a	chr9:43104160-43104174
21	JUND	chr9:43100504-43100679	HepG2	liver:	n/a	n/a
22	PAX5	chr9:43096441-43096648	GM12878	blood:	n/a	n/a
23	PAX5	chr9:43100458-43100686	GM12878	blood:	n/a	n/a
24	PBX3	chr9:43098981-43099096	GM12878	blood:	n/a	n/a
25	POU2F2	chr9:43099886-43100221	GM12878	blood:	n/a	n/a
26	POU2F2	chr9:43103889-43104378	GM12878	blood:	n/a	n/a
27	POU2F2	chr9:43097648-43097968	GM12878	blood:	n/a	chr9:43097663-43097685 chr9:43097668-43097678
28	POU2F2	chr9:43100472-43100742	GM12878	blood:	n/a	n/a
29	POU2F2	chr9:43104021-43104166	GM12878	blood:	n/a	n/a
30	SIX5	chr9:43102529-43102798	GM12878	blood:	n/a	n/a
31	SIX5	chr9:43100452-43100786	K562	blood:	n/a	n/a
32	SP1	chr9:43096460-43096542	HepG2	liver:	n/a	n/a
33	SP1	chr9:43103883-43104415	GM12878	blood:	n/a	n/a
34	SP1	chr9:43102738-43103003	GM12878	blood:	n/a	n/a
35	SP1	chr9:43094292-43094613	GM12878	blood:	n/a	n/a
36	SP1	chr9:43100457-43100705	GM12878	blood:	n/a	n/a
37	SPI1	chr9:43100467-43100665	K562	blood:	n/a	n/a
38	SPI1	chr9:43097379-43097630	GM12878	blood:	n/a	n/a
39	SPI1	chr9:43100489-43100651	GM12878	blood:	n/a	n/a
40	ZBTB33	chr9:43100490-43100760	HepG2	liver:	n/a	n/a
41	ZBTB33	chr9:43096490-43096614	HepG2	liver:	n/a	n/a
42	ZBTB33	chr9:43100480-43100776	HepG2	liver:	n/a	n/a
43	ZBTB33	chr9:43097720-43097847	HepG2	liver:	n/a	n/a
44	ZBTB33	chr9:43104085-43104415	K562	blood:	n/a	n/a
45	ZBTB33	chr9:43100455-43100798	GM12878	blood:	n/a	n/a
46	ZBTB33	chr9:43100378-43100771	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXD4L2-1	chr9:43102670-43102758	ENSG00000237587.1
2	lnc-FAM75A6-11	chr9:43095105-43095268	NONHSAT131344
3	lnc-FOXD4L2-1	chr9:43102670-43102758	ENSG00000237587.1
4	lnc-FAM75A6-11	chr9:43099327-43099506	NONHSAT131344
5	lnc-FOXD4L2-1	chr9:43102670-43102758	ENSG00000237587.2

Variant related genes	Relation type
ENSG00000237587	TF binding region
ANKRD20A3	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559602789	chr9:43099272-43099273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs4247563	chr9:43099893-43099894	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs9645048	chr9:43100609-43100610	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs62552311	chr9:43101400-43101401	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs183183755	chr9:43101414-43101415	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs11792951	chr9:43101447-43101448	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs530254203	chr9:43101463-43101464	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs537621423	chr9:43101509-43101510	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs374629091	chr9:43101512-43101513	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs377436245	chr9:43101513-43101514	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs201184137	chr9:43101543-43101544	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs372911854	chr9:43101544-43101545	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs59536754	chr9:43101547-43101548	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs367669643	chr9:43101548-43101549	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs371509482	chr9:43101549-43101550	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs28675829	chr9:43101566-43101567	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs28704900	chr9:43101569-43101570	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs560829853	chr9:43101580-43101581	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs28718756	chr9:43101607-43101608	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs11262105	chr9:43101628-43101629	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs12346825	chr9:43101711-43101712	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs112315912	chr9:43101719-43101720	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs4925895	chr9:43101774-43101775	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs4929411	chr9:43101775-43101776	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs4929506	chr9:43101793-43101794	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs12341379	chr9:43101809-43101810	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs4929507	chr9:43101810-43101811	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs28646003	chr9:43101829-43101830	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs376045990	chr9:43101865-43101866	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs531391046	chr9:43101867-43101868	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs3123896	chr9:43102711-43102712	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs7388728	chr9:43102821-43102822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs6605842	chr9:43103948-43103949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs10123101	chr9:43104132-43104133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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