Variant report

Variant	esv3339796
Chromosome Location	chr3:144469709-144470086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138698180	chr3:144469718-144469719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141264450	chr3:144469728-144469729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150764027	chr3:144469730-144469731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562457720	chr3:144469738-144469739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530023094	chr3:144469756-144469757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548456631	chr3:144469759-144469760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566692587	chr3:144469760-144469761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542772373	chr3:144469788-144469789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534030516	chr3:144469791-144469792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138021963	chr3:144469794-144469795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571762211	chr3:144469796-144469797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538750266	chr3:144469797-144469798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188972550	chr3:144469831-144469832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575194525	chr3:144469838-144469839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536570781	chr3:144469842-144469843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193021265	chr3:144469860-144469861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185217621	chr3:144469862-144469863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540849520	chr3:144469864-144469865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558880496	chr3:144469871-144469872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576910784	chr3:144469873-144469874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544282228	chr3:144469878-144469879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562469258	chr3:144469882-144469883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575253928	chr3:144469884-144469885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558898161	chr3:144469905-144469906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529682734	chr3:144469906-144469907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542158589	chr3:144469913-144469914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6782105	chr3:144469924-144469925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146027976	chr3:144469927-144469928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140047138	chr3:144469930-144469931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570514748	chr3:144469934-144469935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143535176	chr3:144469952-144469953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550634585	chr3:144469961-144469962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6793649	chr3:144469964-144469965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554521194	chr3:144469966-144469967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567200621	chr3:144469979-144469980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534216083	chr3:144469985-144469986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559114282	chr3:144469987-144469988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111931022	chr3:144470000-144470001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188545697	chr3:144470014-144470015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181351529	chr3:144470023-144470024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572022460	chr3:144470040-144470041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142935940	chr3:144470045-144470046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151097818	chr3:144470047-144470048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532915491	chr3:144470060-144470061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184277244	chr3:144470065-144470066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541076006	chr3:144470080-144470081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188227786	chr3:144470084-144470085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144469600-144469800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:144469800-144475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:144470000-144471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:144470000-144471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:144470000-144471600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links