Variant report

Variant	nsv518436
Chromosome Location	chr15:58620796-58623408
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58621143..58623301-chr15:58640418..58642219,2	MCF-7	breast:
2	chr15:58623181..58625459-chr15:58764481..58766715,2	MCF-7	breast:
3	chr15:58621394..58622984-chr15:59063185..59064722,2	MCF-7	breast:
4	chr15:58356493..58358577-chr15:58620625..58623547,2	K562	blood:
5	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
6	chr15:58622401..58623159-chr15:65588008..65588652,2	Hela-S3	cervix:
7	chr15:58617922..58620837-chr15:58622625..58624296,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-9	chr15:58623378-58623578	NONHSAT044107
2	lnc-ADAM10-9	chr15:58623378-58623663	NONHSAT044106
3	lnc-ADAM10-9	chr15:58623378-58623829	NONHSAT044104

No data

Variant related genes	Relation type
ENSG00000259285	chromatin interactions
ENSG00000128918	chromatin interactions
ENSG00000245975	chromatin interactions
ENSG00000128923	chromatin interactions
ENSG00000199568	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs261273	chr15:58620796-58620797	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142869785	chr15:58620813-58620814	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75285593	chr15:58620824-58620825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77200335	chr15:58620852-58620853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546869846	chr15:58620871-58620872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34780960	chr15:58620891-58620892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs59483657	chr15:58620893-58620894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567088548	chr15:58620913-58620914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs57291799	chr15:58620926-58620927	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529017595	chr15:58620941-58620942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35220901	chr15:58620965-58620966	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74535704	chr15:58620978-58620979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549040121	chr15:58620983-58620984	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569028906	chr15:58620999-58621000	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537810478	chr15:58621017-58621018	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557773973	chr15:58621024-58621025	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577847915	chr15:58621054-58621055	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144586562	chr15:58621099-58621100	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534126835	chr15:58621114-58621115	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199644000	chr15:58621115-58621116	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74690457	chr15:58621143-58621144	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113541800	chr15:58621160-58621161	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74549486	chr15:58621173-58621174	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148512122	chr15:58621181-58621182	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562527715	chr15:58621184-58621185	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190648624	chr15:58621196-58621197	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545018498	chr15:58621207-58621208	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77001558	chr15:58621222-58621223	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs142755908	chr15:58621255-58621256	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs151064667	chr15:58621268-58621269	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140076657	chr15:58621270-58621271	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114942352	chr15:58621307-58621308	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143833545	chr15:58621355-58621356	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569004563	chr15:58621363-58621364	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3985730	chr15:58621401-58621402	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs59098982	chr15:58621406-58621407	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs60371862	chr15:58621408-58621409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs550566381	chr15:58621412-58621413	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs56077097	chr15:58621414-58621415	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs537985583	chr15:58621429-58621430	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551344420	chr15:58621450-58621451	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146839920	chr15:58621453-58621454	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570098285	chr15:58621454-58621455	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs140647964	chr15:58621489-58621490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs553998507	chr15:58621496-58621497	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs150410793	chr15:58621527-58621528	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs566181094	chr15:58621531-58621532	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536404339	chr15:58621549-58621550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556444647	chr15:58621563-58621564	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs183180887	chr15:58621603-58621604	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58617400-58621000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:58617400-58621200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr15:58617400-58623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:58618600-58622200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:58620400-58622000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:58620400-58622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:58621000-58621400	Active TSS	Liver	Liver
8	chr15:58621000-58622000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:58621000-58622200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr15:58621200-58621400	Enhancers	Duodenum Mucosa	Duodenum
11	chr15:58621200-58624000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:58621200-58624800	Enhancers	Primary T cells from cord blood	blood
13	chr15:58621400-58621600	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:58621400-58622000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr15:58621400-58622400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:58621400-58622400	Enhancers	K562	blood
17	chr15:58621400-58623400	Enhancers	NHDF-Ad	bronchial
18	chr15:58621400-58624200	Flanking Active TSS	Liver	Liver
19	chr15:58621400-58625200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr15:58621800-58622000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:58621800-58622000	Enhancers	Hela-S3	cervix
22	chr15:58621800-58622000	Enhancers	HepG2	liver
23	chr15:58621800-58624400	Enhancers	Fetal Kidney	kidney
24	chr15:58621800-58625400	Enhancers	Primary B cells from cord blood	blood
25	chr15:58622000-58622200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:58622000-58622200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:58622000-58622400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:58622000-58622400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr15:58622000-58622600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:58622000-58623000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr15:58622000-58623200	Enhancers	Dnd41	blood
32	chr15:58622000-58623200	Enhancers	NHLF	lung
33	chr15:58622000-58623600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:58622000-58623600	Enhancers	Small Intestine	intestine
35	chr15:58622000-58623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:58622000-58623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:58622000-58624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:58622000-58624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:58622000-58624000	Enhancers	Stomach Smooth Muscle	stomach
40	chr15:58622000-58624200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr15:58622000-58624400	Flanking Active TSS	Hela-S3	cervix
42	chr15:58622000-58624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr15:58622000-58624600	Enhancers	Thymus	Thymus
44	chr15:58622000-58625000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr15:58622000-58625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr15:58622000-58625200	Enhancers	Colonic Mucosa	Colon
47	chr15:58622000-58625400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr15:58622000-58625400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr15:58622000-58625400	Enhancers	Fetal Muscle Leg	muscle
50	chr15:58622000-58625400	Enhancers	Fetal Thymus	thymus

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