Variant report

Variant	nsv1006809
Chromosome Location	chr3:21796208-21809266
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	CTCF	chr3:21802533-21802585	GM20000	blood:	n/a	n/a
2	CTCF	chr3:21801600-21801750	NHLF	lung:	n/a	n/a
3	E2F4	chr3:21807228-21807397	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr3:21807450-21807794	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr3:21806783-21808352	SK-N-SH	brain:	n/a	chr3:21807149-21807163
6	GATA2	chr3:21796424-21796754	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr3:21801838-21802096	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr3:21807649-21808104	SH-SY5Y	brain:	n/a	n/a
9	POLR2A	chr3:21806472-21806606	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr3:21801198-21801398	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr3:21805052-21805124	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr3:21805782-21805975	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:21808776-21808944	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:21796866-21797231	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:21807314-21807402	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr3:21801382-21801563	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr3:21791389-21796924	SK-N-SH	brain:	n/a	chr3:21794444-21794456
18	STAT3	chr3:21797507-21797509	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr3:21800889-21801192	MCF10A-Er-Src	breast:	n/a	chr3:21801016-21801023
20	TCF12	chr3:21807467-21808001	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 354 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9845699	chr3:21796208-21796209	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528078344	chr3:21796220-21796221	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62236198	chr3:21796224-21796225	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564317553	chr3:21796225-21796226	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7649103	chr3:21796232-21796233	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533479752	chr3:21796246-21796247	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138499954	chr3:21796268-21796269	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs376452791	chr3:21796288-21796289	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs569253160	chr3:21796293-21796294	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11921929	chr3:21796338-21796339	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191159695	chr3:21796345-21796346	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148867754	chr3:21796389-21796390	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143556216	chr3:21796390-21796391	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs7649224	chr3:21796419-21796420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183260757	chr3:21796440-21796441	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557478627	chr3:21796447-21796448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4858015	chr3:21796468-21796469	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539984513	chr3:21796523-21796524	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs80265663	chr3:21796566-21796567	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557168472	chr3:21796576-21796577	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575501904	chr3:21796599-21796600	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs114147179	chr3:21796612-21796613	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564148054	chr3:21796637-21796638	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572897367	chr3:21796641-21796642	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186869274	chr3:21796656-21796657	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62236199	chr3:21796716-21796717	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529542521	chr3:21796730-21796731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs59511233	chr3:21796752-21796753	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563134887	chr3:21796771-21796772	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533331327	chr3:21796781-21796782	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537354944	chr3:21796793-21796794	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551484059	chr3:21796810-21796811	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566595626	chr3:21796814-21796815	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs148048452	chr3:21796834-21796835	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs549315064	chr3:21796835-21796836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567550304	chr3:21796836-21796837	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs191248296	chr3:21796863-21796864	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6805992	chr3:21796865-21796866	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575538749	chr3:21796879-21796880	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539614577	chr3:21796882-21796883	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs557902132	chr3:21796940-21796941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs34501613	chr3:21796972-21796973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs531913484	chr3:21797007-21797008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs572933580	chr3:21797025-21797026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539849160	chr3:21797044-21797045	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182716340	chr3:21797056-21797057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573545796	chr3:21797079-21797080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs188439373	chr3:21797106-21797107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs374964392	chr3:21797139-21797140	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10440124	chr3:21797148-21797149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
2	chr3:21795400-21796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:21795800-21796600	Enhancers	Fetal Muscle Leg	muscle
4	chr3:21795800-21797000	Enhancers	HSMMtube	muscle
5	chr3:21796200-21796400	Enhancers	Fetal Heart	heart
6	chr3:21801600-21802000	Enhancers	Fetal Lung	lung

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