Variant report

Variant	esv3338901
Chromosome Location	chr3:144475612-144476710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144776608	chr3:144475627-144475628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62273793	chr3:144475649-144475650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73010026	chr3:144475672-144475673	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551618837	chr3:144475680-144475681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532473729	chr3:144475710-144475711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183047693	chr3:144475711-144475712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550634500	chr3:144475712-144475713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs562915798	chr3:144475719-144475720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530073360	chr3:144475735-144475736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568933095	chr3:144475737-144475738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529058229	chr3:144475742-144475743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548540943	chr3:144475749-144475750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370624409	chr3:144475785-144475786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534484331	chr3:144475790-144475791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116092424	chr3:144475791-144475792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116749563	chr3:144475794-144475795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147959839	chr3:144475801-144475802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375195648	chr3:144475821-144475822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187007438	chr3:144475827-144475828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535152388	chr3:144475828-144475829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs377685896	chr3:144475834-144475835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140155160	chr3:144475886-144475887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545649619	chr3:144475887-144475888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563963613	chr3:144475935-144475936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs151151938	chr3:144475936-144475937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565241748	chr3:144475941-144475942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs527668698	chr3:144475948-144475949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530205435	chr3:144475955-144475956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113844534	chr3:144475959-144475960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375708513	chr3:144475960-144475961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376158611	chr3:144475962-144475963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370296048	chr3:144475964-144475965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113502072	chr3:144475986-144475987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10804697	chr3:144476025-144476026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531971088	chr3:144476044-144476045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550347400	chr3:144476096-144476097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112352446	chr3:144476100-144476101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535492790	chr3:144476126-144476127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373674823	chr3:144476127-144476128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565644338	chr3:144476139-144476140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113935511	chr3:144476142-144476143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556549277	chr3:144476152-144476153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557663355	chr3:144476169-144476170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575325766	chr3:144476287-144476288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116688108	chr3:144476289-144476290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542604038	chr3:144476295-144476296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574845471	chr3:144476302-144476303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542261440	chr3:144476307-144476308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192734283	chr3:144476314-144476315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560307151	chr3:144476322-144476323	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144475600-144476000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:144475600-144476000	ZNF genes & repeats	Gastric	stomach
3	chr3:144476000-144476400	Weak transcription	Gastric	stomach
4	chr3:144476400-144482800	Weak transcription	Aorta	Aorta

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