Variant report

Variant	esv3430813
Chromosome Location	chr15:79030147-79032270
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	chr15:78910640..78911433-chr15:79032225..79033403,4	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140599089	chr15:79030197-79030198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs370956291	chr15:79030203-79030204	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556588762	chr15:79030263-79030264	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192172050	chr15:79030389-79030390	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58717592	chr15:79030417-79030418	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143778930	chr15:79030423-79030424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527724873	chr15:79030431-79030432	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564263209	chr15:79030440-79030441	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148137563	chr15:79030442-79030443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75150160	chr15:79030479-79030480	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150271650	chr15:79030485-79030486	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11852970	chr15:79030486-79030487	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11852909	chr15:79030499-79030500	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367940745	chr15:79030507-79030508	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11856441	chr15:79030526-79030527	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142705205	chr15:79030543-79030544	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554248921	chr15:79030549-79030550	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374144867	chr15:79030565-79030566	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11852887	chr15:79030578-79030579	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35602248	chr15:79030598-79030599	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556412688	chr15:79030617-79030618	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537704652	chr15:79030621-79030622	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184525955	chr15:79030649-79030650	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370384470	chr15:79030651-79030652	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76412132	chr15:79030671-79030672	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76681511	chr15:79030672-79030673	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75884254	chr15:79030673-79030674	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11853608	chr15:79030693-79030694	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573413325	chr15:79030752-79030753	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561138798	chr15:79030783-79030784	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535844172	chr15:79030797-79030798	Enhancers Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12906165	chr15:79030830-79030831	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374779038	chr15:79030835-79030836	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565134599	chr15:79030837-79030838	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12906022	chr15:79030838-79030839	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77786718	chr15:79030876-79030877	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77097561	chr15:79030877-79030878	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71402965	chr15:79030881-79030882	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577748792	chr15:79030936-79030937	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377293461	chr15:79030968-79030969	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71402966	chr15:79031059-79031060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71402967	chr15:79031079-79031080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190008454	chr15:79031138-79031139	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs112723723	chr15:79031139-79031140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370700365	chr15:79031160-79031161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189653214	chr15:79031170-79031171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74200924	chr15:79031172-79031173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61468666	chr15:79031174-79031175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12906664	chr15:79031182-79031183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201838421	chr15:79031191-79031192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79028000-79030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79029800-79030800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr15:79029800-79032800	Weak transcription	Spleen	Spleen
4	chr15:79030200-79030600	Enhancers	Stomach Smooth Muscle	stomach
5	chr15:79030400-79030600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:79030400-79030600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:79030400-79030600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:79030400-79030600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:79030400-79030600	Enhancers	Right Ventricle	heart
10	chr15:79030400-79030600	Flanking Active TSS	K562	blood
11	chr15:79030400-79030800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:79030400-79030800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:79030400-79030800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:79030400-79030800	Enhancers	Placenta	Placenta
15	chr15:79030400-79031000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:79030400-79031000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:79030400-79031000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:79030600-79030800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:79030600-79031000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr15:79030600-79032400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:79030600-79032600	Weak transcription	Right Ventricle	heart
22	chr15:79030600-79032600	Weak transcription	K562	blood
23	chr15:79030800-79031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:79030800-79031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:79030800-79032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:79031000-79031400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:79031000-79032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:79031200-79033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:79031200-79033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:79031400-79031600	Enhancers	HMEC	breast
31	chr15:79031400-79032000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:79031400-79033000	Enhancers	NHEK	skin
33	chr15:79031600-79031800	Enhancers	Gastric	stomach
34	chr15:79031600-79032600	Weak transcription	HMEC	breast
35	chr15:79031600-79032800	Enhancers	Stomach Mucosa	stomach
36	chr15:79031600-79033000	Enhancers	A549	lung
37	chr15:79031800-79032000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr15:79031800-79032600	Weak transcription	Gastric	stomach
39	chr15:79031800-79033000	Enhancers	Esophagus	oesophagus
40	chr15:79031800-79033800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:79032000-79032400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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