Variant report

Variant	nsv524065
Chromosome Location	chr15:58725839-58730889
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58726222..58728488-chr15:58751000..58752953,2	K562	blood:
2	chr15:58709732..58712579-chr15:58730855..58732681,2	K562	blood:
3	chr15:58623609..58625282-chr15:58727962..58730632,2	MCF-7	breast:
4	chr15:58728810..58730578-chr15:58760180..58761799,2	MCF-7	breast:
5	chr15:58726654..58728474-chr15:58730449..58733344,2	MCF-7	breast:
6	chr15:58730575..58732285-chr15:58839559..58842370,2	K562	blood:
7	chr15:58730817..58731598-chr22:22510997..22511880,2	HCT-116	colon:
8	chr15:58726654..58728474-chr15:58730449..58733344,2	MCF-7	breast:
9	chr15:58729567..58734283-chr15:58741092..58746394,5	K562	blood:
10	chr15:58623562..58626994-chr15:58730618..58733502,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH1A2-1	chr15:58727089-58729111	ENSG00000259293.1

No data

Variant related genes	Relation type
ENSG00000128918	chromatin interactions
ENSG00000233720	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs633695	chr15:58725839-58725840	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554218070	chr15:58725872-58725873	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149788550	chr15:58725874-58725875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs542814443	chr15:58725901-58725902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563114442	chr15:58725905-58725906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557073553	chr15:58725911-58725912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531812557	chr15:58725952-58725953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545548107	chr15:58725962-58725963	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565264406	chr15:58725968-58725969	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527727652	chr15:58725972-58725973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569259832	chr15:58725979-58725980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs17269250	chr15:58725986-58725987	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145823366	chr15:58726089-58726090	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549680308	chr15:58726098-58726099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148968484	chr15:58726137-58726138	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538328882	chr15:58726142-58726143	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558268895	chr15:58726165-58726166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565331445	chr15:58726177-58726178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374815830	chr15:58726182-58726183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534278433	chr15:58726338-58726339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116101152	chr15:58726388-58726389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574218957	chr15:58726424-58726425	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17190510	chr15:58726463-58726464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182787008	chr15:58726485-58726486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576743925	chr15:58726502-58726503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545511162	chr15:58726505-58726506	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187476661	chr15:58726533-58726534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572580193	chr15:58726610-58726611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs541031723	chr15:58726615-58726616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561355140	chr15:58726634-58726635	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529923503	chr15:58726668-58726669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550080761	chr15:58726672-58726673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563129839	chr15:58726675-58726676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532218844	chr15:58726692-58726693	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551959460	chr15:58726695-58726696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142979013	chr15:58726717-58726718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146635159	chr15:58726720-58726721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192220957	chr15:58726722-58726723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs373370472	chr15:58726733-58726734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs261334	chr15:58726744-58726745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
41	rs536530022	chr15:58726749-58726750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556938833	chr15:58726843-58726844	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370807532	chr15:58726873-58726874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113767766	chr15:58726940-58726941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs386784436	chr15:58726958-58726959	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs199939433	chr15:58726968-58726969	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs67891074	chr15:58726969-58726970	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71116564	chr15:58726976-58726977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373991526	chr15:58727003-58727004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539194722	chr15:58727035-58727036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	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:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58704600-58728800	Weak transcription	Thymus	Thymus
2	chr15:58716600-58726600	Weak transcription	Esophagus	oesophagus
3	chr15:58718400-58726600	Weak transcription	Stomach Mucosa	stomach
4	chr15:58722600-58731000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:58724200-58726400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:58724200-58727000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:58724200-58727200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:58724400-58726200	Weak transcription	Fetal Thymus	thymus
9	chr15:58724400-58726600	Enhancers	Adipose Nuclei	Adipose
10	chr15:58724400-58726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:58724400-58726800	Enhancers	HSMMtube	muscle
12	chr15:58724600-58726200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:58724600-58731000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:58724800-58726000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:58724800-58726400	Enhancers	A549	lung
16	chr15:58724800-58731200	Weak transcription	NHDF-Ad	bronchial
17	chr15:58724800-58732600	Weak transcription	Psoas Muscle	Psoas
18	chr15:58725000-58726400	Enhancers	Hela-S3	cervix
19	chr15:58725000-58727200	Enhancers	Brain Hippocampus Middle	brain
20	chr15:58725000-58729200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:58725000-58730000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:58725000-58731000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:58725000-58731000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:58725200-58726600	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:58725200-58729800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:58725200-58732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:58725400-58726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:58725400-58727200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:58725400-58727200	Flanking Active TSS	Liver	Liver
30	chr15:58725600-58726200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:58725600-58726200	Enhancers	Fetal Intestine Small	intestine
32	chr15:58725600-58726400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:58725600-58726400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:58725600-58726400	Enhancers	Brain Angular Gyrus	brain
35	chr15:58725600-58726400	Enhancers	Brain Anterior Caudate	brain
36	chr15:58725600-58726400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr15:58725600-58726600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:58725600-58726600	Enhancers	Brain Substantia Nigra	brain
39	chr15:58725600-58727200	Enhancers	Right Ventricle	heart
40	chr15:58725800-58726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr15:58725800-58726000	Enhancers	Pancreas	Pancrea
42	chr15:58725800-58726000	Enhancers	Small Intestine	intestine
43	chr15:58725800-58726000	Enhancers	NH-A	brain
44	chr15:58725800-58726000	Enhancers	Osteobl	bone
45	chr15:58725800-58726200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:58725800-58726200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:58725800-58726200	Flanking Active TSS	HepG2	liver
48	chr15:58725800-58726400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr15:58725800-58726400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr15:58725800-58726400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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