Variant report

Variant	esv3522439
Chromosome Location	chr3:21989948-21994746
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	MYC	chr3:21990003-21990164	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:21990551-21990561	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ZNF385D-AS2	TF binding region

Extended variants
information (count: 270 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149903149	chr3:21989959-21989960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535749617	chr3:21990040-21990041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536133	chr3:21990063-21990064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536196	chr3:21990089-21990090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185636910	chr3:21990167-21990168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114614992	chr3:21990170-21990171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113953957	chr3:21990176-21990177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375695970	chr3:21990177-21990178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201454864	chr3:21990178-21990179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573334951	chr3:21990184-21990185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187701574	chr3:21990187-21990188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199727983	chr3:21990199-21990200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200622279	chr3:21990200-21990201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74279251	chr3:21990201-21990202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398071786	chr3:21990205-21990206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114312678	chr3:21990206-21990207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114099692	chr3:21990207-21990208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144973838	chr3:21990266-21990267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559082	chr3:21990287-21990288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139908017	chr3:21990294-21990295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143415008	chr3:21990309-21990310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575594147	chr3:21990322-21990323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530642197	chr3:21990335-21990336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559861	chr3:21990347-21990348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559894	chr3:21990362-21990363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566792411	chr3:21990436-21990437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574876091	chr3:21990447-21990448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs599540	chr3:21990448-21990449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146730763	chr3:21990465-21990466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567945292	chr3:21990479-21990480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528846500	chr3:21990538-21990539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551318240	chr3:21990552-21990553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555395013	chr3:21990561-21990562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140379665	chr3:21990578-21990579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73046353	chr3:21990594-21990595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562629	chr3:21990638-21990639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35726889	chr3:21990642-21990643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs598684	chr3:21990644-21990645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534014705	chr3:21990664-21990665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1694018	chr3:21990673-21990674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371555375	chr3:21990682-21990683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573968631	chr3:21990691-21990692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374504292	chr3:21990693-21990694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12492135	chr3:21990703-21990704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370917432	chr3:21990708-21990709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563648	chr3:21990754-21990755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575178035	chr3:21990759-21990760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545637768	chr3:21990788-21990789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192712758	chr3:21990827-21990828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545827371	chr3:21990836-21990837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21984600-21996000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:21987400-21993000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:21992800-21994000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:21993000-21993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:21993200-21994000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:21994000-21994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:21994400-21994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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