Variant report

Variant	nsv510659
Chromosome Location	chr15:39072035-39148591
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39109578..39110474-chr15:39145706..39146406,3	MCF-7	breast:
2	chr15:38999973..39000632-chr15:39145568..39146483,2	K562	blood:
3	chr15:39085713..39088566-chr15:39372910..39375619,2	MCF-7	breast:
4	chr15:39106077..39108768-chr15:39110446..39113134,2	K562	blood:
5	chr15:38999758..39000677-chr15:39109720..39110502,3	K562	blood:
6	chr1:76081387..76081887-chr15:39080643..39081147,2	Hela-S3	cervix:
7	chr15:39106077..39108768-chr15:39110446..39113134,2	K562	blood:
8	chr15:39060876..39061871-chr15:39109578..39110390,2	MCF-7	breast:
9	chr15:39109788..39110560-chr15:39464020..39464923,3	K562	blood:
10	chr15:39109642..39110205-chr15:39156134..39156758,2	MCF-7	breast:
11	chr15:39109626..39110574-chr15:39283075..39284008,7	MCF-7	breast:
12	chr15:39109610..39110793-chr15:39283014..39284012,10	MCF-7	breast:
13	chr15:38999832..39000780-chr15:39109707..39110440,2	MCF-7	breast:
14	chr15:39109578..39110474-chr15:39145706..39146406,3	MCF-7	breast:
15	chr15:39108039..39110943-chr15:39463087..39465051,2	MCF-7	breast:
16	chr15:39109782..39110594-chr15:39145267..39146966,11	MCF-7	breast:
17	chr15:39109782..39110594-chr15:39145267..39146966,11	MCF-7	breast:
18	chr15:39110391..39112088-chr15:39872847..39875458,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf53-3	chr15:39080325-39080381	NONHSAT041722
2	lnc-C15orf53-3	chr15:39073218-39073381	NONHSAT041722

No data

Variant related genes	Relation type
ENSG00000137801	chromatin interactions

Extended variants
information (count: 2220 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2220 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2929676	chr15:39072447-39072448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114566865	chr15:39072508-39072509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191955667	chr15:39072509-39072510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183382479	chr15:39072541-39072542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74009907	chr15:39072556-39072557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1559832	chr15:39072564-39072565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547154368	chr15:39072631-39072632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564404694	chr15:39072634-39072635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559289250	chr15:39072688-39072689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372708246	chr15:39072715-39072716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16967442	chr15:39072717-39072718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142239792	chr15:39072741-39072742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150163514	chr15:39072804-39072805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189571942	chr15:39072810-39072811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114444524	chr15:39072814-39072815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566744151	chr15:39072852-39072853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533884995	chr15:39072890-39072891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138167047	chr15:39072909-39072910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540775821	chr15:39072933-39072934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34392500	chr15:39072935-39072936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117599283	chr15:39072953-39072954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537662344	chr15:39072973-39072974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56759732	chr15:39072974-39072975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574212203	chr15:39073048-39073049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529378431	chr15:39073078-39073079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553520770	chr15:39073080-39073081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573471476	chr15:39073105-39073106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116122123	chr15:39073142-39073143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565575728	chr15:39073164-39073165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532718953	chr15:39073218-39073219	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
31	rs149562275	chr15:39073237-39073238	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536551116	chr15:39073280-39073281	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs368241005	chr15:39073285-39073286	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs530253877	chr15:39073307-39073308	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542924849	chr15:39073315-39073316	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs28416679	chr15:39073323-39073324	Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143311336	chr15:39073330-39073331	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs75964093	chr15:39073342-39073343	Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs182267304	chr15:39073402-39073403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570737770	chr15:39073405-39073406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537619520	chr15:39073495-39073496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115528933	chr15:39073506-39073507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567798945	chr15:39073537-39073538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142146746	chr15:39073538-39073539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72731285	chr15:39073566-39073567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186829237	chr15:39073571-39073572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146355497	chr15:39073587-39073588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34148086	chr15:39073684-39073685	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192926485	chr15:39073686-39073687	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185142992	chr15:39073706-39073707	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39072400-39074400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr15:39072800-39073600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:39072800-39073800	Enhancers	HMEC	breast
4	chr15:39073000-39074400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:39073200-39073400	Bivalent Enhancer	Left Ventricle	heart
6	chr15:39073200-39074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:39073600-39074400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:39081200-39082800	Enhancers	Fetal Lung	lung
9	chr15:39082800-39085200	Weak transcription	Fetal Lung	lung
10	chr15:39085000-39085200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:39085000-39085400	Enhancers	Fetal Kidney	kidney
12	chr15:39085200-39085800	Enhancers	Fetal Lung	lung
13	chr15:39085200-39085800	Enhancers	Fetal Stomach	stomach
14	chr15:39085200-39086000	Enhancers	Aorta	Aorta
15	chr15:39085400-39085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:39085400-39086600	Weak transcription	Fetal Kidney	kidney
17	chr15:39085600-39085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:39085800-39087600	Weak transcription	Fetal Lung	lung
19	chr15:39086000-39087600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:39086800-39087000	Enhancers	Fetal Kidney	kidney
21	chr15:39087600-39087800	Flanking Active TSS	HSMMtube	muscle
22	chr15:39087600-39088000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:39087600-39088000	Enhancers	Fetal Lung	lung
24	chr15:39087600-39088800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:39087800-39088000	Enhancers	HSMMtube	muscle
26	chr15:39088000-39088600	Enhancers	Osteobl	bone
27	chr15:39088000-39091400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:39088200-39088400	Enhancers	Fetal Stomach	stomach
29	chr15:39088600-39089000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:39088600-39089200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr15:39088800-39089200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr15:39095400-39095600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:39099400-39099800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:39099800-39100000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:39100000-39100800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:39100000-39101600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:39100400-39100600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:39100400-39100600	Enhancers	Fetal Stomach	stomach
39	chr15:39100400-39101000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:39100600-39101600	Weak transcription	Fetal Stomach	stomach
41	chr15:39100600-39102000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:39100800-39101800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:39101600-39102200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:39101600-39102200	Enhancers	Fetal Heart	heart
45	chr15:39101600-39102200	Enhancers	Fetal Stomach	stomach
46	chr15:39101800-39103600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:39102000-39102200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:39102000-39102200	Enhancers	Left Ventricle	heart
49	chr15:39102000-39103600	Enhancers	Osteobl	bone
50	chr15:39102200-39102800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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