Variant report

Variant	nsv833013
Chromosome Location	chr15:54927825-55135274
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:
2	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
3	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
4	chr15:55098177..55100063-chr15:55487437..55488979,2	MCF-7	breast:
5	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
6	chr15:55095085..55095585-chr3:11761302..11762189,2	MCF-7	breast:
7	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
8	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
9	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
10	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:
11	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
12	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
13	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
14	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144560	chromatin interactions
ENSG00000137876	chromatin interactions

Extended variants
information (count: 3818 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3818 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72740053	chr15:54927848-54927849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146491936	chr15:54927849-54927850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117628499	chr15:54927890-54927891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2414333	chr15:54927903-54927904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547995261	chr15:54927906-54927907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567970361	chr15:54927922-54927923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138735634	chr15:54927928-54927929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550153677	chr15:54927945-54927946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76793215	chr15:54927955-54927956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564160536	chr15:54927979-54927980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539499718	chr15:54927987-54927988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536784164	chr15:54933005-54933006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575435734	chr15:54933014-54933015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545809887	chr15:54933029-54933030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184646534	chr15:54933034-54933035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374126553	chr15:54933112-54933113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367678616	chr15:54933120-54933121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140475689	chr15:54933126-54933127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150402761	chr15:54933142-54933143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112275439	chr15:54933151-54933152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371519924	chr15:54933152-54933153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562105681	chr15:54933175-54933176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4485296	chr15:54933199-54933200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4238395	chr15:54933224-54933225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377676299	chr15:54933230-54933231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114106543	chr15:54933234-54933235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532172417	chr15:54933359-54933360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138127482	chr15:54933454-54933455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559172874	chr15:54933455-54933456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528377339	chr15:54933482-54933483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570732313	chr15:54933525-54933526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547772301	chr15:54933552-54933553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189723003	chr15:54933556-54933557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181329637	chr15:54933582-54933583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530399278	chr15:54934095-54934096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369103590	chr15:54934105-54934106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550556434	chr15:54934107-54934108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181913078	chr15:54934114-54934115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570414835	chr15:54934144-54934145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539564158	chr15:54934156-54934157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186547423	chr15:54934157-54934158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547214229	chr15:54934162-54934163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73405705	chr15:54934183-54934184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568459598	chr15:54934208-54934209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536141719	chr15:54934209-54934210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190556640	chr15:54934210-54934211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535896473	chr15:54934216-54934217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537801818	chr15:54934248-54934249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564109430	chr15:54934249-54934250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528345566	chr15:54934273-54934274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	21215367	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54927800-54928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:54933000-54933400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr15:54933000-54933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:54933000-54933600	Enhancers	Duodenum Mucosa	Duodenum
5	chr15:54933000-54933600	Enhancers	Fetal Intestine Large	intestine
6	chr15:54934000-54934200	Enhancers	Aorta	Aorta
7	chr15:54934200-54938000	Weak transcription	Aorta	Aorta
8	chr15:54941400-54942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:54951400-54952000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:54952000-54952400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:54952400-54952800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
19	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
21	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
22	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
24	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
25	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
26	chr15:54979600-54980200	Enhancers	Liver	Liver
27	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
28	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr15:54979600-54980400	Active TSS	A549	lung
30	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
32	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
34	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach
36	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain
37	chr15:55000200-55000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:55019000-55020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:55019200-55019400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:55019400-55019800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:55020000-55020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:55020400-55021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:55021000-55022200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:55022200-55023000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:55030400-55031000	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr15:55030400-55031000	ZNF genes & repeats	Aorta	Aorta
47	chr15:55037600-55037800	Weak transcription	Aorta	Aorta
48	chr15:55037800-55038200	ZNF genes & repeats	Aorta	Aorta
49	chr15:55038200-55041600	Weak transcription	Aorta	Aorta
50	chr15:55041800-55042000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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