Variant report

Variant	esv2750532
Chromosome Location	chr15:78927945-78929916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78919661..78922424-chr15:78925246..78928766,4	MCF-7	breast:
2	chr15:78927929..78930646-chr15:78932577..78935349,2	K562	blood:
3	chr15:78928288..78930109-chr3:49131767..49133502,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117971	chromatin interactions
ENSG00000198218	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201395114	chr15:78927952-78927953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535148141	chr15:78927981-78927982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556915685	chr15:78927994-78927995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576669662	chr15:78928008-78928009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544056027	chr15:78928012-78928013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71537686	chr15:78928020-78928021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142966768	chr15:78928022-78928023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541618395	chr15:78928043-78928044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72648897	chr15:78928108-78928109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12441088	chr15:78928264-78928265	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530214428	chr15:78928304-78928305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541860532	chr15:78928319-78928320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563659579	chr15:78928323-78928324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571975822	chr15:78928332-78928333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184295734	chr15:78928394-78928395	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs67175876	chr15:78928399-78928400	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528303766	chr15:78928410-78928411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79609284	chr15:78928411-78928412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
19	rs187177325	chr15:78928456-78928457	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117385892	chr15:78928499-78928500	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs370651389	chr15:78928526-78928527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191480635	chr15:78928545-78928546	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs144348336	chr15:78928647-78928648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184373935	chr15:78928657-78928658	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75474580	chr15:78928658-78928659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374054362	chr15:78928731-78928732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs559320758	chr15:78928809-78928810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189318153	chr15:78928843-78928844	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535276409	chr15:78928862-78928863	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553556930	chr15:78928877-78928878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11636605	chr15:78928878-78928879	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs370419526	chr15:78928907-78928908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs147799644	chr15:78928919-78928920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11636753	chr15:78928946-78928947	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs377161406	chr15:78928954-78928955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537694153	chr15:78928955-78928956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575619912	chr15:78928990-78928991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545774658	chr15:78929089-78929090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564078050	chr15:78929118-78929119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141178732	chr15:78929135-78929136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546394379	chr15:78929178-78929179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs561508095	chr15:78929179-78929180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145255924	chr15:78929211-78929212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs543631828	chr15:78929226-78929227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534823654	chr15:78929266-78929267	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs57728226	chr15:78929350-78929351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs532702325	chr15:78929366-78929367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12441998	chr15:78929372-78929373	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539455458	chr15:78929408-78929409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551387912	chr15:78929458-78929459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78915000-78929600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:78918600-78933000	Weak transcription	Fetal Kidney	kidney
3	chr15:78918800-78932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:78922000-78929800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78927400-78932200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:78927600-78928200	Enhancers	Thymus	Thymus
7	chr15:78928000-78928200	Enhancers	Fetal Thymus	thymus
8	chr15:78928200-78928800	Weak transcription	Fetal Thymus	thymus
9	chr15:78928200-78929000	Weak transcription	Thymus	Thymus
10	chr15:78928800-78932600	Enhancers	Fetal Thymus	thymus
11	chr15:78929000-78930200	Enhancers	Thymus	Thymus
12	chr15:78929600-78929800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:78929800-78930400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:78929800-78931200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78929800-78931200	Enhancers	Fetal Brain Male	brain

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