Variant report

Variant	esv3332458
Chromosome Location	chr15:78085872-78087995
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	chr15:78086471..78089118-chr20:52208956..52211312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171940	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12906902	chr15:78085890-78085891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549245552	chr15:78085958-78085959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567178768	chr15:78086007-78086008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537847915	chr15:78086015-78086016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556336956	chr15:78086098-78086099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139417175	chr15:78086158-78086159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540042787	chr15:78086204-78086205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536826144	chr15:78086277-78086278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558353754	chr15:78086309-78086310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573495108	chr15:78086371-78086372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540602170	chr15:78086385-78086386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556001179	chr15:78086406-78086407	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117027728	chr15:78086409-78086410	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62007851	chr15:78086424-78086425	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562651631	chr15:78086466-78086467	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533205597	chr15:78086495-78086496	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147595570	chr15:78086529-78086530	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72730734	chr15:78086573-78086574	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202102908	chr15:78086621-78086622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144247174	chr15:78086629-78086630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58478727	chr15:78086630-78086631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527460178	chr15:78086631-78086632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202013721	chr15:78086632-78086633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201688555	chr15:78086634-78086635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150156901	chr15:78086636-78086637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71828759	chr15:78086637-78086638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55873638	chr15:78086638-78086639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199975397	chr15:78086639-78086640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200141301	chr15:78086640-78086641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377055921	chr15:78086643-78086644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60200259	chr15:78086644-78086645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35213139	chr15:78086646-78086647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77947155	chr15:78086650-78086651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200895446	chr15:78086654-78086655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs66476981	chr15:78086656-78086657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs58536088	chr15:78086662-78086663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531220186	chr15:78086663-78086664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549751844	chr15:78086668-78086669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575749750	chr15:78086672-78086673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71145864	chr15:78086680-78086681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377572067	chr15:78086681-78086682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191810900	chr15:78086689-78086690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs528612036	chr15:78086692-78086693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538701799	chr15:78086700-78086701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs8039211	chr15:78086716-78086717	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12912331	chr15:78086729-78086730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529967665	chr15:78086730-78086731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12912337	chr15:78086733-78086734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199815695	chr15:78086751-78086752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs8039241	chr15:78086764-78086765	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Breast cancer	17133270	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78073800-78099200	Weak transcription	Right Atrium	heart
2	chr15:78074400-78100800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:78079600-78090400	Weak transcription	Brain Angular Gyrus	brain
4	chr15:78079600-78092400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:78079600-78096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:78080400-78090400	Weak transcription	Brain Germinal Matrix	brain
7	chr15:78080400-78095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:78080600-78088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:78084600-78087400	Weak transcription	Fetal Brain Female	brain
10	chr15:78086400-78086600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:78086400-78086600	Enhancers	Pancreas	Pancrea
12	chr15:78086800-78087800	Weak transcription	Pancreas	Pancrea
13	chr15:78087400-78087600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr15:78087400-78088200	Strong transcription	Fetal Brain Female	brain
15	chr15:78087600-78088200	Bivalent Enhancer	Right Ventricle	heart
16	chr15:78087600-78090800	Enhancers	Dnd41	blood
17	chr15:78087800-78088800	Enhancers	Pancreas	Pancrea

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