Variant report

Variant	esv3349479
Chromosome Location	chr3:144483812-144486110
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	chr3:143689621..143691420-chr3:144483860..144486695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55770269	chr3:144483850-144483851	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537440939	chr3:144483884-144483885	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74804242	chr3:144483919-144483920	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573989181	chr3:144483926-144483927	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543879231	chr3:144483931-144483932	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138354951	chr3:144483943-144483944	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553108751	chr3:144483945-144483946	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74947263	chr3:144483946-144483947	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117764282	chr3:144483974-144483975	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563310546	chr3:144483976-144483977	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112089642	chr3:144483979-144483980	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538837699	chr3:144483991-144483992	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144321618	chr3:144484035-144484036	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561207979	chr3:144484044-144484045	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528356067	chr3:144484058-144484059	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191418853	chr3:144484067-144484068	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185524395	chr3:144484090-144484091	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115787907	chr3:144484176-144484177	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551621243	chr3:144484199-144484200	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148344720	chr3:144484208-144484209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537095026	chr3:144484231-144484232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141593291	chr3:144484255-144484256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548008241	chr3:144484282-144484283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115413662	chr3:144484292-144484293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs202106589	chr3:144484301-144484302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558885937	chr3:144484308-144484309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578085109	chr3:144484315-144484316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533444653	chr3:144484320-144484321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150902690	chr3:144484368-144484369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76326855	chr3:144484408-144484409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs59823402	chr3:144484412-144484413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189250330	chr3:144484444-144484445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61400914	chr3:144484451-144484452	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572412754	chr3:144484502-144484503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560821975	chr3:144484512-144484513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114678457	chr3:144484526-144484527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540501048	chr3:144484537-144484538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565172304	chr3:144484546-144484547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532236853	chr3:144484568-144484569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550745515	chr3:144484571-144484572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116005665	chr3:144484573-144484574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9879393	chr3:144484613-144484614	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548966767	chr3:144484643-144484644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567293587	chr3:144484668-144484669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535000613	chr3:144484672-144484673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546923189	chr3:144484683-144484684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553674959	chr3:144484686-144484687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9821737	chr3:144484688-144484689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192808579	chr3:144484730-144484731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545757523	chr3:144484772-144484773	Weak transcription	Chromatin interactive region	1 gene(s)	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144482600-144484200	Active TSS	Brain Cingulate Gyrus	brain
2	chr3:144483200-144489200	Weak transcription	Psoas Muscle	Psoas
3	chr3:144483400-144487800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:144483400-144489000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:144483400-144489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:144483400-144489200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:144483400-144489400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:144483600-144484000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:144483600-144489400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:144483800-144488000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:144484000-144489200	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:144484200-144485400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:144485400-144485600	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:144485600-144489200	Weak transcription	Brain Cingulate Gyrus	brain

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