Variant report

Variant	nsv1043600
Chromosome Location	chr15:54910593-55010156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:
2	chr15:54910155..54912492-chr15:54912771..54915484,2	MCF-7	breast:
3	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
4	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
5	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
6	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
7	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
8	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UNC13C	hsa-miR-128-3p	chr15:54919879-54919886
2	UNC13C	hsa-miR-128-3p	chr15:54919866-54919886

Extended variants
information (count: 1537 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1537 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1851000	chr15:54910593-54910594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569345008	chr15:54910613-54910614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141372626	chr15:54910659-54910660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556837331	chr15:54910693-54910694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150634718	chr15:54910768-54910769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72460524	chr15:54910769-54910770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71105823	chr15:54910773-54910774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570626377	chr15:54910789-54910790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376596432	chr15:54910812-54910813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190560605	chr15:54910859-54910860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572488436	chr15:54910864-54910865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541453767	chr15:54910870-54910871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114157058	chr15:54910976-54910977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182941274	chr15:54911016-54911017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571658051	chr15:54911039-54911040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544308331	chr15:54911047-54911048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564476172	chr15:54911065-54911066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533622064	chr15:54911070-54911071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78895313	chr15:54911081-54911082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560802575	chr15:54911106-54911107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550608967	chr15:54911108-54911109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2911846	chr15:54911198-54911199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187557481	chr15:54911205-54911206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569241128	chr15:54911221-54911222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541571219	chr15:54911222-54911223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28501146	chr15:54911267-54911268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28635360	chr15:54911278-54911279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551897799	chr15:54911284-54911285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191638198	chr15:54911313-54911314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539652297	chr15:54911342-54911343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57292695	chr15:54911386-54911387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183003190	chr15:54911394-54911395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563229932	chr15:54911410-54911411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187843704	chr15:54911414-54911415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554902843	chr15:54911418-54911419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113265505	chr15:54911432-54911433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61106359	chr15:54911436-54911437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397945652	chr15:54911442-54911443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57406873	chr15:54911554-54911555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs117110596	chr15:54911556-54911557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372614796	chr15:54911562-54911563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146985580	chr15:54911566-54911567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530533614	chr15:54911568-54911569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115258395	chr15:54911574-54911575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138064770	chr15:54911609-54911610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12101359	chr15:54911617-54911618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192483659	chr15:54911619-54911620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531771120	chr15:54911622-54911623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12101884	chr15:54911726-54911727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185623127	chr15:54911730-54911731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54900000-54920600	Weak transcription	Aorta	Aorta
2	chr15:54906400-54916000	Weak transcription	Fetal Lung	lung
3	chr15:54907400-54915800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:54909600-54911400	Enhancers	Fetal Intestine Large	intestine
5	chr15:54909800-54912400	Enhancers	HepG2	liver
6	chr15:54910000-54911000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:54910000-54913000	Enhancers	Fetal Intestine Small	intestine
8	chr15:54910200-54911000	Enhancers	Duodenum Mucosa	Duodenum
9	chr15:54911000-54911800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:54911400-54912800	Weak transcription	Fetal Intestine Large	intestine
11	chr15:54912000-54912200	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:54912800-54913200	Enhancers	Fetal Intestine Large	intestine
13	chr15:54915600-54916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:54915800-54916000	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:54916000-54916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:54916000-54918000	Strong transcription	Fetal Lung	lung
17	chr15:54918000-54920400	Weak transcription	Fetal Lung	lung
18	chr15:54920400-54921400	Strong transcription	Fetal Lung	lung
19	chr15:54920600-54921400	Strong transcription	Aorta	Aorta
20	chr15:54921200-54921600	Active TSS	Gastric	stomach
21	chr15:54921400-54923000	Weak transcription	Fetal Lung	lung
22	chr15:54921400-54925400	Weak transcription	Aorta	Aorta
23	chr15:54927800-54928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:54933000-54933400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr15:54933000-54933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:54933000-54933600	Enhancers	Duodenum Mucosa	Duodenum
27	chr15:54933000-54933600	Enhancers	Fetal Intestine Large	intestine
28	chr15:54934000-54934200	Enhancers	Aorta	Aorta
29	chr15:54934200-54938000	Weak transcription	Aorta	Aorta
30	chr15:54941400-54942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:54951400-54952000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:54952000-54952400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:54952400-54952800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
41	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
43	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
47	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
48	chr15:54979600-54980200	Enhancers	Liver	Liver
49	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
50	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum

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