Variant report

Variant	esv3337991
Chromosome Location	chr3:144484512-144485660
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: 52 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560821975	chr3:144484512-144484513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114678457	chr3:144484526-144484527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540501048	chr3:144484537-144484538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565172304	chr3:144484546-144484547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532236853	chr3:144484568-144484569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550745515	chr3:144484571-144484572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116005665	chr3:144484573-144484574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9879393	chr3:144484613-144484614	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548966767	chr3:144484643-144484644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567293587	chr3:144484668-144484669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535000613	chr3:144484672-144484673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546923189	chr3:144484683-144484684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553674959	chr3:144484686-144484687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9821737	chr3:144484688-144484689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192808579	chr3:144484730-144484731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545757523	chr3:144484772-144484773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368915413	chr3:144484793-144484794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139838770	chr3:144484813-144484814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67842390	chr3:144484816-144484817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57872149	chr3:144484850-144484851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544247233	chr3:144484871-144484872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528820584	chr3:144484877-144484878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200214853	chr3:144484889-144484890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376625141	chr3:144484891-144484892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534597132	chr3:144484898-144484899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199689099	chr3:144484907-144484908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200868242	chr3:144484909-144484910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146216146	chr3:144484910-144484911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139163326	chr3:144484912-144484913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554622589	chr3:144484937-144484938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572913561	chr3:144485171-144485172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540215643	chr3:144485200-144485201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558623507	chr3:144485238-144485239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145019274	chr3:144485255-144485256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75493380	chr3:144485256-144485257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530931723	chr3:144485261-144485262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542676472	chr3:144485272-144485273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372670955	chr3:144485277-144485278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73010047	chr3:144485341-144485342	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374049392	chr3:144485440-144485441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528494536	chr3:144485495-144485496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185316425	chr3:144485534-144485535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376865367	chr3:144485549-144485550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59664363	chr3:144485566-144485567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574625880	chr3:144485575-144485576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372935165	chr3:144485588-144485589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541843742	chr3:144485589-144485590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560219800	chr3:144485590-144485591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35215588	chr3:144485624-144485625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs57552648	chr3:144485625-144485626	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:12 , 50 per page) page: 1

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

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