Variant report

Variant	esv275317
Chromosome Location	chr3:144482382-144486520
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	chr3:144459658..144462426-chr3:144481491..144483613,2	K562	blood:
2	chr3:143689621..143691420-chr3:144483860..144486695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185371373	chr3:144482389-144482390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113357862	chr3:144482404-144482405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377494803	chr3:144482424-144482425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61524368	chr3:144482460-144482461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58886785	chr3:144482462-144482463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374995532	chr3:144482464-144482465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56781864	chr3:144482466-144482467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9289681	chr3:144482468-144482469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57075363	chr3:144482470-144482471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190917788	chr3:144482483-144482484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57909256	chr3:144482484-144482485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187609052	chr3:144482511-144482512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114089913	chr3:144482578-144482579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376347281	chr3:144482608-144482609	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61650548	chr3:144482633-144482634	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397970803	chr3:144482637-144482638	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554229983	chr3:144482642-144482643	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572508345	chr3:144482702-144482703	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191531067	chr3:144482715-144482716	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183701404	chr3:144482722-144482723	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564846801	chr3:144482752-144482753	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576655402	chr3:144482782-144482783	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116361087	chr3:144482805-144482806	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562096064	chr3:144482843-144482844	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528979899	chr3:144482898-144482899	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60705164	chr3:144482919-144482920	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559006206	chr3:144482936-144482937	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58555339	chr3:144482949-144482950	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199724931	chr3:144482953-144482954	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397800159	chr3:144482954-144482955	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537133793	chr3:144482968-144482969	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532790496	chr3:144482978-144482979	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551085728	chr3:144483004-144483005	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113233717	chr3:144483015-144483016	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58537913	chr3:144483052-144483053	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397818984	chr3:144483054-144483055	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73010044	chr3:144483083-144483084	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549162179	chr3:144483109-144483110	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534615051	chr3:144483112-144483113	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187828819	chr3:144483137-144483138	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150161527	chr3:144483145-144483146	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139078208	chr3:144483167-144483168	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59881462	chr3:144483195-144483196	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76515588	chr3:144483234-144483235	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557828138	chr3:144483267-144483268	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576678869	chr3:144483281-144483282	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60171667	chr3:144483311-144483312	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149277052	chr3:144483327-144483328	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7646035	chr3:144483334-144483335	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572246250	chr3:144483341-144483342	Active TSS Enhancers 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144476400-144482800	Weak transcription	Aorta	Aorta
2	chr3:144480200-144483000	Weak transcription	Fetal Lung	lung
3	chr3:144481600-144482600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:144482600-144483400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr3:144482600-144483400	Active TSS	Brain Angular Gyrus	brain
6	chr3:144482600-144483400	Active TSS	Brain Anterior Caudate	brain
7	chr3:144482600-144483400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:144482600-144483400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:144482600-144483400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr3:144482600-144483400	Active TSS	HMEC	breast
11	chr3:144482600-144483600	Active TSS	Brain Hippocampus Middle	brain
12	chr3:144482600-144483600	Active TSS	Brain Substantia Nigra	brain
13	chr3:144482600-144484200	Active TSS	Brain Cingulate Gyrus	brain
14	chr3:144482800-144483200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:144482800-144483200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:144482800-144483200	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr3:144482800-144483200	Active TSS	Adipose Nuclei	Adipose
18	chr3:144482800-144483200	Active TSS	Aorta	Aorta
19	chr3:144482800-144483200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr3:144482800-144483200	Active TSS	Ovary	ovary
21	chr3:144482800-144483200	Active TSS	Psoas Muscle	Psoas
22	chr3:144482800-144483200	Active TSS	Right Atrium	heart
23	chr3:144482800-144483200	Active TSS	A549	lung
24	chr3:144482800-144483200	Active TSS	Hela-S3	cervix
25	chr3:144482800-144483200	Active TSS	HUVEC	blood vessel
26	chr3:144482800-144483200	Active TSS	NHEK	skin
27	chr3:144482800-144483400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:144482800-144483400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:144482800-144483400	Active TSS	Fetal Intestine Small	intestine
30	chr3:144482800-144483400	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:144482800-144483400	Active TSS	HSMMtube	muscle
32	chr3:144482800-144483600	Active TSS	GM12878-XiMat	blood
33	chr3:144483000-144483200	Enhancers	Fetal Lung	lung
34	chr3:144483000-144483400	Active TSS	Duodenum Mucosa	Duodenum
35	chr3:144483200-144483400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:144483200-144483400	Enhancers	Aorta	Aorta
37	chr3:144483200-144489200	Weak transcription	Psoas Muscle	Psoas
38	chr3:144483400-144483600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:144483400-144487800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:144483400-144489000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:144483400-144489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:144483400-144489200	Weak transcription	Brain Anterior Caudate	brain
43	chr3:144483400-144489400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:144483600-144483800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:144483600-144484000	Enhancers	Brain Hippocampus Middle	brain
46	chr3:144483600-144489400	Weak transcription	Brain Substantia Nigra	brain
47	chr3:144483800-144488000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:144484000-144489200	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:144484200-144485400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:144485400-144485600	Enhancers	Brain Cingulate Gyrus	brain

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