Variant report

Variant	esv2646891
Chromosome Location	chr3:143620488-143621943
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: 63 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145225120	chr3:143620565-143620566	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149192005	chr3:143620604-143620605	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76734773	chr3:143620625-143620626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569445668	chr3:143620643-143620644	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs36117706	chr3:143620794-143620795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145132379	chr3:143620796-143620797	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555277045	chr3:143620807-143620808	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6803662	chr3:143620809-143620810	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116808163	chr3:143620819-143620820	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375570688	chr3:143620820-143620821	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531761712	chr3:143620838-143620839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558255346	chr3:143620850-143620851	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138956312	chr3:143620915-143620916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112193727	chr3:143620971-143620972	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs55892850	chr3:143621008-143621009	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55719025	chr3:143621033-143621034	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115392038	chr3:143621052-143621053	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574328094	chr3:143621060-143621061	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367615424	chr3:143621066-143621067	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560445007	chr3:143621104-143621105	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527583885	chr3:143621110-143621111	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568595307	chr3:143621121-143621122	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114683309	chr3:143621124-143621125	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55884414	chr3:143621140-143621141	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565087588	chr3:143621146-143621147	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113628533	chr3:143621189-143621190	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116501984	chr3:143621221-143621222	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28550970	chr3:143621238-143621239	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551060326	chr3:143621259-143621260	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116056209	chr3:143621308-143621309	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60632557	chr3:143621311-143621312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548491483	chr3:143621328-143621329	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567192578	chr3:143621340-143621341	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554526478	chr3:143621367-143621368	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184718733	chr3:143621411-143621412	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs58191086	chr3:143621434-143621435	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78579743	chr3:143621460-143621461	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537435892	chr3:143621494-143621495	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145878351	chr3:143621500-143621501	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574192687	chr3:143621531-143621532	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7650329	chr3:143621544-143621545	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560049365	chr3:143621550-143621551	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547014530	chr3:143621560-143621561	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77355988	chr3:143621583-143621584	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188686928	chr3:143621592-143621593	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565295610	chr3:143621593-143621594	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532584388	chr3:143621606-143621607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368176112	chr3:143621632-143621633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558218614	chr3:143621639-143621640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7628380	chr3:143621659-143621660	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:17 , 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	chr3:143619600-143620600	Enhancers	HUVEC	blood vessel
7	chr3:143619600-143620600	Enhancers	NH-A	brain
8	chr3:143619600-143620800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:143619600-143620800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:143619600-143620800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:143619600-143620800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:143619600-143620800	Enhancers	NHEK	skin
13	chr3:143619600-143620800	Enhancers	Osteobl	bone
14	chr3:143619600-143621000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:143619600-143621400	Enhancers	NHDF-Ad	bronchial
16	chr3:143620000-143620600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:143620600-143620800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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