Variant report

Variant	esv2460744
Chromosome Location	chr15:93397570-93399018
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	chr15:93393471..93398396-chr15:93424059..93427661,6	K562	blood:
2	chr15:93396157..93398283-chr15:93424059..93426007,2	K562	blood:

Variant related genes	Relation type
ENSG00000173575	chromatin interactions
ENSG00000272888	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28414640	chr15:93397570-93397571	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559711340	chr15:93397572-93397573	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186006042	chr15:93397583-93397584	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367642547	chr15:93397602-93397603	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540780527	chr15:93397606-93397607	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571348342	chr15:93397647-93397648	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557840511	chr15:93397667-93397668	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140740978	chr15:93397704-93397705	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549783745	chr15:93397707-93397708	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190926238	chr15:93397738-93397739	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529190806	chr15:93397741-93397742	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7172674	chr15:93397763-93397764	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565740812	chr15:93397767-93397768	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112333687	chr15:93397781-93397782	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs182506793	chr15:93397810-93397811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs115573412	chr15:93397818-93397819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577994069	chr15:93397829-93397830	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187175727	chr15:93397845-93397846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190109325	chr15:93397872-93397873	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537075311	chr15:93397891-93397892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556917648	chr15:93397905-93397906	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75010155	chr15:93397921-93397922	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199784474	chr15:93397922-93397923	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143246203	chr15:93397967-93397968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs536564152	chr15:93397978-93397979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553582578	chr15:93397997-93397998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540925453	chr15:93398011-93398012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545583219	chr15:93398043-93398044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564200552	chr15:93398097-93398098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6496995	chr15:93398179-93398180	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs543509169	chr15:93398180-93398181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563294817	chr15:93398201-93398202	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs140323040	chr15:93398204-93398205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549018631	chr15:93398210-93398211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559587021	chr15:93398222-93398223	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528321582	chr15:93398236-93398237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551139349	chr15:93398256-93398257	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs8040306	chr15:93398281-93398282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182736416	chr15:93398322-93398323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550630474	chr15:93398324-93398325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567554310	chr15:93398340-93398341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187427674	chr15:93398347-93398348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567135169	chr15:93398356-93398357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs193224571	chr15:93398374-93398375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574025514	chr15:93398381-93398382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs559210837	chr15:93398397-93398398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575880400	chr15:93398461-93398462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543546249	chr15:93398487-93398488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557055262	chr15:93398496-93398497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199521642	chr15:93398509-93398510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93390600-93399000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:93393000-93399000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:93396000-93397600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:93396200-93397600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr15:93396200-93397600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr15:93396200-93398000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr15:93396400-93399000	Weak transcription	A549	lung
8	chr15:93396600-93397600	Enhancers	Spleen	Spleen
9	chr15:93396800-93398400	Weak transcription	Primary T cells from cord blood	blood
10	chr15:93396800-93412400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:93397000-93397800	ZNF genes & repeats	GM12878-XiMat	blood
12	chr15:93397400-93397600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:93397400-93399200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:93397600-93399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:93397800-93398200	Weak transcription	GM12878-XiMat	blood
16	chr15:93398800-93399600	Enhancers	Fetal Kidney	kidney
17	chr15:93398800-93400800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr15:93399000-93399200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr15:93399000-93399400	Enhancers	HepG2	liver
20	chr15:93399000-93399600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:93399000-93399600	Enhancers	Fetal Intestine Large	intestine
22	chr15:93399000-93399800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:93399000-93399800	Enhancers	Fetal Intestine Small	intestine
24	chr15:93399000-93399800	Enhancers	NHEK	skin
25	chr15:93399000-93400200	Enhancers	A549	lung

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