Variant report

Variant	esv2272104
Chromosome Location	chr3:143620831-143621347
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	chr3:143620792..143623032-chr3:143690321..143691839,2	MCF-7	breast:
2	chr3:143619574..143622269-chr3:143688723..143691584,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531761712	chr3:143620838-143620839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558255346	chr3:143620850-143620851	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138956312	chr3:143620915-143620916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112193727	chr3:143620971-143620972	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55892850	chr3:143621008-143621009	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs55719025	chr3:143621033-143621034	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115392038	chr3:143621052-143621053	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574328094	chr3:143621060-143621061	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367615424	chr3:143621066-143621067	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560445007	chr3:143621104-143621105	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527583885	chr3:143621110-143621111	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568595307	chr3:143621121-143621122	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114683309	chr3:143621124-143621125	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs55884414	chr3:143621140-143621141	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565087588	chr3:143621146-143621147	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113628533	chr3:143621189-143621190	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116501984	chr3:143621221-143621222	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28550970	chr3:143621238-143621239	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551060326	chr3:143621259-143621260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116056209	chr3:143621308-143621309	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs60632557	chr3:143621311-143621312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548491483	chr3:143621328-143621329	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567192578	chr3:143621340-143621341	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143618800-143621400	Enhancers	NHLF	lung
2	chr3:143619200-143621400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:143619200-143621400	Enhancers	HMEC	breast
4	chr3:143619400-143621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:143619400-143621600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:143619600-143621000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:143619600-143621400	Enhancers	NHDF-Ad	bronchial

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