Variant report

Variant	esv3370130
Chromosome Location	chr3:144968868-144969461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12637929	chr3:144968890-144968891	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149488955	chr3:144969037-144969038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186465690	chr3:144969044-144969045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554900864	chr3:144969075-144969076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs73016185	chr3:144969079-144969080	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373977451	chr3:144969113-144969114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs143911331	chr3:144969115-144969116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563248177	chr3:144969125-144969126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190453062	chr3:144969130-144969131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573365047	chr3:144969133-144969134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549028660	chr3:144969160-144969161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79115613	chr3:144969162-144969163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528201289	chr3:144969232-144969233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547571677	chr3:144969252-144969253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565975426	chr3:144969266-144969267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553484248	chr3:144969293-144969294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565565496	chr3:144969294-144969295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs540126302	chr3:144969312-144969313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1445369	chr3:144969313-144969314	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569997759	chr3:144969331-144969332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537068836	chr3:144969338-144969339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555824353	chr3:144969347-144969348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs17822933	chr3:144969409-144969410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62274761	chr3:144969428-144969429	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553199906	chr3:144969430-144969431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373751095	chr3:144969453-144969454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376658933	chr3:144969459-144969460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371865889	chr3:144969460-144969461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144965800-144970200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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