Variant report

Variant	nsv527259
Chromosome Location	chr3:118906442-118916627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:118916389..118918845-chr3:118921672..118924388,2	MCF-7	breast:
2	chr3:118914548..118916696-chr3:118929232..118931834,2	K562	blood:
3	chr3:118904646..118906555-chr3:118909442..118912016,2	MCF-7	breast:
4	chr3:118903436..118905729-chr3:118907568..118909269,2	MCF-7	breast:
5	chr3:118903933..118906787-chr3:118956775..118959458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114638	chromatin interactions
ENSG00000121578	chromatin interactions

Extended variants
information (count: 382 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10934486	chr3:118906442-118906443	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566450845	chr3:118906462-118906463	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527345617	chr3:118906480-118906481	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547265917	chr3:118906488-118906489	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114762511	chr3:118906511-118906512	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539179874	chr3:118906553-118906554	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184612880	chr3:118906578-118906579	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376861279	chr3:118906589-118906590	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75422009	chr3:118906616-118906617	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536332285	chr3:118906619-118906620	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76053283	chr3:118906629-118906630	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79413845	chr3:118906638-118906639	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368350153	chr3:118906644-118906645	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371450314	chr3:118906672-118906673	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs201007372	chr3:118906679-118906680	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372476492	chr3:118906702-118906703	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs137980561	chr3:118906708-118906709	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199631618	chr3:118906740-118906741	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562654822	chr3:118906743-118906744	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546231019	chr3:118906757-118906758	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375059095	chr3:118906766-118906767	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149411356	chr3:118906791-118906792	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147505927	chr3:118906814-118906815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191853885	chr3:118906822-118906823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62273513	chr3:118906905-118906906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560331412	chr3:118906980-118906981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527244138	chr3:118907107-118907108	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551891195	chr3:118907151-118907152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151178694	chr3:118907195-118907196	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4687979	chr3:118907197-118907198	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550898195	chr3:118907226-118907227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79856598	chr3:118907263-118907264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116965325	chr3:118907323-118907324	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78207845	chr3:118907347-118907348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566855079	chr3:118907369-118907370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534168763	chr3:118907392-118907393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183837077	chr3:118907410-118907411	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375422626	chr3:118907451-118907452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115947875	chr3:118907461-118907462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111390877	chr3:118907514-118907515	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544155139	chr3:118907545-118907546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139081672	chr3:118907609-118907610	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4450805	chr3:118907622-118907623	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74961888	chr3:118907633-118907634	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188951798	chr3:118907637-118907638	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572071110	chr3:118907644-118907645	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545750792	chr3:118907652-118907653	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369467675	chr3:118907702-118907703	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112320654	chr3:118907705-118907706	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531366353	chr3:118907745-118907746	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118884000-118914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:118900600-118908400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
4	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:118903800-118908600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:118904400-118910600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:118904400-118912800	Weak transcription	NH-A	brain
8	chr3:118904400-118913000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:118904600-118936400	Weak transcription	Gastric	stomach
10	chr3:118904800-118906600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:118904800-118910400	Weak transcription	HMEC	breast
12	chr3:118904800-118913000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:118904800-118914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:118905400-118907400	Weak transcription	Fetal Stomach	stomach
15	chr3:118906000-118906600	Enhancers	Osteobl	bone
16	chr3:118906000-118906800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:118906000-118907000	Enhancers	Placenta	Placenta
18	chr3:118906000-118907000	Enhancers	NHDF-Ad	bronchial
19	chr3:118906200-118906600	Genic enhancers	A549	lung
20	chr3:118906200-118907600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:118906600-118906800	Genic enhancers	Placenta Amnion	Placenta Amnion
22	chr3:118906600-118906800	Flanking Active TSS	A549	lung
23	chr3:118906800-118909400	Enhancers	A549	lung
24	chr3:118906800-118910400	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr3:118907000-118910600	Weak transcription	Placenta	Placenta
26	chr3:118907400-118908400	Strong transcription	Fetal Stomach	stomach
27	chr3:118907600-118908000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:118907600-118910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:118908000-118908600	ZNF genes & repeats	Aorta	Aorta
30	chr3:118908000-118908600	Enhancers	Left Ventricle	heart
31	chr3:118908200-118908600	Enhancers	Right Ventricle	heart
32	chr3:118908200-118908800	Enhancers	Fetal Heart	heart
33	chr3:118908200-118909000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:118908400-118910800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
36	chr3:118908600-118909200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:118908600-118914000	Weak transcription	Aorta	Aorta
38	chr3:118908800-118909000	Enhancers	Brain Substantia Nigra	brain
39	chr3:118908800-118909600	Weak transcription	Fetal Heart	heart
40	chr3:118909200-118914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:118909400-118911400	Genic enhancers	A549	lung
42	chr3:118909600-118910000	Active TSS	Brain Substantia Nigra	brain
43	chr3:118910400-118911400	Enhancers	HMEC	breast
44	chr3:118910400-118911400	Enhancers	NHEK	skin
45	chr3:118910400-118913000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr3:118910600-118910800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:118910600-118910800	Enhancers	Placenta	Placenta
48	chr3:118910600-118910800	Bivalent Enhancer	NHDF-Ad	bronchial
49	chr3:118910600-118911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:118910600-118911200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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