Variant report

Variant	nsv514782
Chromosome Location	chr15:53026224-53027764
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52548183..52549192-chr15:53027141..53028320,9	K562	blood:
2	chr15:52973784..52977367-chr15:53024530..53026901,4	MCF-7	breast:
3	chr15:52859015..52862196-chr15:53026182..53028979,3	MCF-7	breast:
4	chr15:52820704..52821409-chr15:53027435..53028340,2	K562	blood:
5	chr15:52623157..52624688-chr15:53027206..53029012,2	MCF-7	breast:
6	chr15:52623273..52624277-chr15:53027279..53028330,7	MCF-7	breast:
7	chr15:53001338..53004194-chr15:53026134..53027960,2	MCF-7	breast:
8	chr15:52819938..52821534-chr15:53026653..53028952,2	MCF-7	breast:
9	chr15:52623110..52623924-chr15:53027427..53028267,4	MCF-7	breast:
10	chr15:52623330..52624257-chr15:53027398..53028338,3	K562	blood:
11	chr15:52820586..52822979-chr15:53024504..53027126,2	MCF-7	breast:
12	chr15:53020023..53021825-chr15:53025584..53028001,2	MCF-7	breast:
13	chr15:52509083..52509697-chr15:53027309..53027962,2	MCF-7	breast:
14	chr15:52509089..52509941-chr15:53027516..53028325,2	MCF-7	breast:
15	chr15:52508008..52509939-chr15:53026331..53028847,2	MCF-7	breast:
16	chr15:53022444..53024405-chr15:53025609..53027744,2	MCF-7	breast:
17	chr15:52968697..52973342-chr15:53018163..53028590,24	MCF-7	breast:
18	chr15:52548200..52549159-chr15:53027337..53028329,9	MCF-7	breast:
19	chr15:52548546..52549086-chr15:53027357..53028249,2	MCF-7	breast:
20	chr15:52965949..52968646-chr15:53025332..53028243,3	MCF-7	breast:
21	chr15:52969340..52972976-chr15:53024542..53030044,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128833	chromatin interactions
ENSG00000047346	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000197535	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145140570	chr15:53026226-53026227	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs532249419	chr15:53026234-53026235	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531778041	chr15:53026306-53026307	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182889637	chr15:53026319-53026320	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs565529168	chr15:53026346-53026347	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536007500	chr15:53026368-53026369	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs548220617	chr15:53026419-53026420	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139023753	chr15:53026425-53026426	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12050612	chr15:53026431-53026432	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185927132	chr15:53026453-53026454	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190442501	chr15:53026460-53026461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs116192109	chr15:53026495-53026496	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs539327174	chr15:53026508-53026509	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs554450573	chr15:53026598-53026599	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs572675613	chr15:53026616-53026617	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs541681335	chr15:53026619-53026620	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142113724	chr15:53026646-53026647	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2120451	chr15:53026669-53026670	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576378852	chr15:53026698-53026699	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs543824636	chr15:53026704-53026705	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs564918274	chr15:53026718-53026719	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs35355620	chr15:53026757-53026758	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182601354	chr15:53026762-53026763	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs547286900	chr15:53026765-53026766	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs145827903	chr15:53026778-53026779	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs529855767	chr15:53026786-53026787	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187638830	chr15:53026788-53026789	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569706096	chr15:53026805-53026806	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536726329	chr15:53026887-53026888	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs192239743	chr15:53026891-53026892	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530615901	chr15:53026905-53026906	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs552391269	chr15:53026930-53026931	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375216202	chr15:53026931-53026932	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs183233830	chr15:53026942-53026943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368701099	chr15:53026966-53026967	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs564009408	chr15:53026994-53026995	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs189080423	chr15:53027023-53027024	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs193078074	chr15:53027059-53027060	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs75078127	chr15:53027075-53027076	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372765643	chr15:53027079-53027080	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs566155813	chr15:53027083-53027084	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs4776076	chr15:53027090-53027091	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554841006	chr15:53027112-53027113	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs79816891	chr15:53027133-53027134	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs117943746	chr15:53027153-53027154	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs558574458	chr15:53027173-53027174	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs576779310	chr15:53027174-53027175	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs369077806	chr15:53027191-53027192	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs568024708	chr15:53027208-53027209	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs540934503	chr15:53027226-53027227	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53021800-53026800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr15:53022800-53029800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:53023600-53027200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:53024000-53026800	Enhancers	NHDF-Ad	bronchial
5	chr15:53024000-53027000	Enhancers	Liver	Liver
6	chr15:53024000-53027200	Enhancers	Adipose Nuclei	Adipose
7	chr15:53024000-53030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:53024200-53027000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr15:53024200-53028400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:53025200-53026400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:53025200-53026800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:53025400-53026400	Enhancers	Primary B cells from peripheral blood	blood
13	chr15:53025400-53026400	Enhancers	Placenta	Placenta
14	chr15:53025400-53026600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:53025400-53027000	Enhancers	Right Atrium	heart
16	chr15:53025400-53027000	Enhancers	Hela-S3	cervix
17	chr15:53025600-53026600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:53025600-53026600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:53025600-53027000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:53025800-53026400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr15:53025800-53026400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:53025800-53026400	Enhancers	Stomach Mucosa	stomach
23	chr15:53026000-53026400	Enhancers	Osteobl	bone
24	chr15:53026000-53026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:53026000-53030400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:53026000-53037400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:53026200-53026400	Enhancers	HUVEC	blood vessel
28	chr15:53026200-53026400	Enhancers	NH-A	brain
29	chr15:53026200-53026800	Weak transcription	Spleen	Spleen
30	chr15:53026200-53027200	Enhancers	HepG2	liver
31	chr15:53026200-53027600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:53026200-53038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:53026400-53026800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:53026400-53029800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:53026400-53030000	Weak transcription	Osteobl	bone
36	chr15:53026600-53029400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr15:53026600-53030200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:53026800-53029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:53026800-53029800	Weak transcription	NHDF-Ad	bronchial
40	chr15:53026800-53030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:53027000-53028000	Weak transcription	Liver	Liver
42	chr15:53027000-53030000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:53027200-53028200	Weak transcription	Adipose Nuclei	Adipose
44	chr15:53027200-53029800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:53027600-53027800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr15:53027600-53027800	Enhancers	NH-A	brain

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