Variant report

Variant	esv10298
Chromosome Location	chr9:10485-10965
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	BCL11A	chr9:9980-10551	GM12878	blood:	n/a	n/a
2	CBX3	chr9:10001-10736	K562	blood:	n/a	n/a
3	CBX3	chr9:9977-11030	K562	blood:	n/a	n/a
4	CBX3	chr9:10782-10991	K562	blood:	n/a	n/a
5	CEBPB	chr9:9953-10625	GM12878	blood:	n/a	n/a
6	CEBPB	chr9:9911-10511	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:10862-11888	K562	blood:	n/a	n/a
8	CTCF	chr9:10756-12557	A549	lung:	n/a	chr9:12414-12427
9	CTCF	chr9:10777-11768	K562	blood:	n/a	n/a
10	CTCF	chr9:10766-12278	A549	lung:	n/a	n/a
11	EP300	chr9:10065-10601	GM12878	blood:	n/a	n/a
12	FOSL2	chr9:9975-26973	HepG2	liver:	n/a	chr9:14084-14095 chr9:14953-14964 chr9:12952-12961 chr9:23521-23533 chr9:22018-22027 chr9:25770-25779 chr9:24597-24604 chr9:23519-23530 chr9:23523-23531 chr9:19839-19851
13	FOSL2	chr9:9945-10509	HepG2	liver:	n/a	n/a
14	FOXA2	chr9:10875-11807	A549	lung:	n/a	n/a
15	FOXM1	chr9:10019-10519	GM12878	blood:	n/a	n/a
16	HEY1	chr9:10748-12288	HepG2	liver:	n/a	n/a
17	HEY1	chr9:10817-10944	HepG2	liver:	n/a	n/a
18	IRF4	chr9:9942-10507	GM12878	blood:	n/a	n/a
19	IRF4	chr9:9944-10578	GM12878	blood:	n/a	n/a
20	MAFF	chr9:9999-10511	K562	blood:	n/a	n/a
21	MYC	chr9:10130-10499	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFIC	chr9:9967-10576	GM12878	blood:	n/a	n/a
23	NR2F2	chr9:9928-10493	K562	blood:	n/a	n/a
24	NR2F2	chr9:9978-10487	K562	blood:	n/a	n/a
25	PAX5	chr9:9928-10923	GM12878	blood:	n/a	n/a
26	PAX5	chr9:9991-10555	GM12878	blood:	n/a	n/a
27	PAX5	chr9:10055-10593	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:9843-11118	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr9:9921-10648	GM12892	blood:	n/a	n/a
30	POLR2A	chr9:10838-10960	A549	lung:	n/a	n/a
31	POLR2A	chr9:9899-10554	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr9:9939-10658	GM12878	blood:	n/a	n/a
33	POLR2A	chr9:9957-10625	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:9937-10601	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr9:10597-11530	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr9:9913-10581	U87	brain:	n/a	n/a
37	POLR2A	chr9:10056-10518	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr9:10696-10975	A549	lung:	n/a	n/a
39	POLR2A	chr9:9915-10635	GM12891	blood:	n/a	n/a
40	POLR2A	chr9:10844-11028	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr9:9937-10518	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr9:9935-10577	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr9:9936-10530	U87	brain:	n/a	n/a
44	POLR2A	chr9:9952-10586	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr9:10747-11605	A549	lung:	n/a	n/a
46	POLR2A	chr9:9933-10526	GM12891	blood:	n/a	n/a
47	POLR2A	chr9:10849-10963	A549	lung:	n/a	n/a
48	POLR2A	chr9:10705-11628	GM12878	blood:	n/a	n/a
49	POU2F2	chr9:10161-10500	GM12878	blood:	n/a	n/a
50	POU2F2	chr9:9968-10936	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
DDX11L5	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544446874	chr9:10498-10499	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368056107	chr9:10503-10504	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs556678566	chr9:10513-10514	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs371809471	chr9:10536-10537	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs578035845	chr9:10548-10549	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545457369	chr9:10559-10560	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560303029	chr9:10566-10567	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112434232	chr9:10576-10577	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527713335	chr9:10582-10583	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543039485	chr9:10583-10584	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561207592	chr9:10590-10591	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531595271	chr9:10593-10594	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549710705	chr9:10594-10595	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571388958	chr9:10597-10598	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs532121268	chr9:10601-10602	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547501765	chr9:10623-10624	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565417700	chr9:10637-10638	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs202118205	chr9:10648-10649	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535893256	chr9:10651-10652	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554137200	chr9:10670-10671	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149890535	chr9:10674-10675	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567631558	chr9:10684-10685	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs143946323	chr9:10690-10691	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs56270691	chr9:10696-10697	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs55678735	chr9:10712-10713	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368818808	chr9:10716-10717	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113256924	chr9:10717-10718	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs578099430	chr9:10722-10723	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545257807	chr9:10731-10732	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371142579	chr9:10743-10744	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554288598	chr9:10765-10766	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572560598	chr9:10775-10776	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543052152	chr9:10784-10785	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs561219904	chr9:10788-10789	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs531658922	chr9:10821-10822	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375876733	chr9:10834-10835	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs7341907	chr9:10869-10870	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543664992	chr9:10892-10893	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565015447	chr9:10894-10895	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532362758	chr9:10908-10909	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370685556	chr9:10935-10936	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs576674727	chr9:10960-10961	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
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
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8800-14200	Weak transcription	Fetal Heart	heart
2	chr9:10000-10600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr9:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:10200-10600	ZNF genes & repeats	Placenta	Placenta
5	chr9:10200-11000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:10200-11200	Enhancers	Osteobl	bone
7	chr9:10200-11400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr9:10200-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:10400-10600	Bivalent/Poised TSS	NHEK	skin
10	chr9:10400-11400	ZNF genes & repeats	HSMM	muscle
11	chr9:10400-11400	Active TSS	K562	blood
12	chr9:10400-14200	Weak transcription	Fetal Lung	lung
13	chr9:10400-21600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:10600-11400	Active TSS	Placenta	Placenta
15	chr9:10800-11000	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links