Variant report

Variant	nsv904089
Chromosome Location	chr15:39104689-39117186
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39109626..39110574-chr15:39283075..39284008,7	MCF-7	breast:
2	chr15:39060876..39061871-chr15:39109578..39110390,2	MCF-7	breast:
3	chr15:39108039..39110943-chr15:39463087..39465051,2	MCF-7	breast:
4	chr15:39109610..39110793-chr15:39283014..39284012,10	MCF-7	breast:
5	chr15:39109788..39110560-chr15:39464020..39464923,3	K562	blood:
6	chr15:39109782..39110594-chr15:39145267..39146966,11	MCF-7	breast:
7	chr15:39109642..39110205-chr15:39156134..39156758,2	MCF-7	breast:
8	chr15:38999758..39000677-chr15:39109720..39110502,3	K562	blood:
9	chr15:38999832..39000780-chr15:39109707..39110440,2	MCF-7	breast:
10	chr15:39106077..39108768-chr15:39110446..39113134,2	K562	blood:
11	chr15:39109578..39110474-chr15:39145706..39146406,3	MCF-7	breast:
12	chr15:39110391..39112088-chr15:39872847..39875458,2	MCF-7	breast:
13	chr15:39106077..39108768-chr15:39110446..39113134,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137801	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2624256	chr15:39104689-39104690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76757802	chr15:39104735-39104736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57387528	chr15:39104752-39104753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571853645	chr15:39104756-39104757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146735539	chr15:39104757-39104758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10549059	chr15:39104761-39104762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71129372	chr15:39104763-39104764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386783198	chr15:39104772-39104773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8040794	chr15:39104775-39104776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567686407	chr15:39104777-39104778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150518800	chr15:39104782-39104783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4602012	chr15:39104798-39104799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4429264	chr15:39104836-39104837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554445704	chr15:39104854-39104855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140274633	chr15:39104929-39104930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540127284	chr15:39104937-39104938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536849175	chr15:39104967-39104968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573587159	chr15:39104981-39104982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367577279	chr15:39105012-39105013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543992971	chr15:39105019-39105020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544131672	chr15:39105051-39105052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562567866	chr15:39105058-39105059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371334317	chr15:39105087-39105088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73394152	chr15:39105096-39105097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541895197	chr15:39105155-39105156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144352563	chr15:39105216-39105217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560183310	chr15:39105218-39105219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528831006	chr15:39105275-39105276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139293422	chr15:39105360-39105361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147375373	chr15:39105367-39105368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565359804	chr15:39105380-39105381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139671901	chr15:39105397-39105398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145184462	chr15:39105404-39105405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145116621	chr15:39105419-39105420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60229326	chr15:39105427-39105428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548217255	chr15:39105496-39105497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2725800	chr15:39105531-39105532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533860920	chr15:39105549-39105550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558400279	chr15:39105583-39105584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1004866	chr15:39105587-39105588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1004865	chr15:39105610-39105611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556084327	chr15:39105647-39105648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372764093	chr15:39105648-39105649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541933749	chr15:39105688-39105689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565205050	chr15:39105691-39105692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55683619	chr15:39105697-39105698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1004864	chr15:39105767-39105768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142213594	chr15:39105805-39105806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151044684	chr15:39105836-39105837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532599275	chr15:39105933-39105934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39103400-39107000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:39103600-39105000	Weak transcription	Osteobl	bone
3	chr15:39103600-39107000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:39103600-39109000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:39104600-39105000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:39105000-39105600	Enhancers	Osteobl	bone
7	chr15:39105000-39109400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:39105600-39109600	Weak transcription	Osteobl	bone
9	chr15:39107000-39107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:39107000-39107600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:39107000-39108200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:39107400-39110600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:39107600-39109800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:39108200-39109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:39109000-39110800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:39109200-39110400	Enhancers	Fetal Kidney	kidney
17	chr15:39109400-39109600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:39109400-39110800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:39109400-39111000	Enhancers	GM12878-XiMat	blood
20	chr15:39109400-39111000	Enhancers	HSMM	muscle
21	chr15:39109600-39110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:39109600-39110000	Enhancers	Hela-S3	cervix
23	chr15:39109600-39110200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:39109600-39110400	Enhancers	HMEC	breast
25	chr15:39109600-39110600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:39109600-39110600	Enhancers	A549	lung
27	chr15:39109600-39110600	Enhancers	NH-A	brain
28	chr15:39109600-39110600	Enhancers	Osteobl	bone
29	chr15:39109600-39111200	Enhancers	Fetal Heart	heart
30	chr15:39109600-39111800	Enhancers	Fetal Stomach	stomach
31	chr15:39109800-39110000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:39109800-39110000	Enhancers	Adipose Nuclei	Adipose
33	chr15:39109800-39110400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:39109800-39110400	Enhancers	Fetal Intestine Large	intestine
35	chr15:39109800-39110400	Enhancers	NHLF	lung
36	chr15:39109800-39110600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:39109800-39110600	Enhancers	NHEK	skin
38	chr15:39109800-39110800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:39109800-39110800	Enhancers	HUVEC	blood vessel
40	chr15:39109800-39110800	Enhancers	NHDF-Ad	bronchial
41	chr15:39109800-39111200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr15:39109800-39112600	Enhancers	Fetal Lung	lung
43	chr15:39110000-39110200	Enhancers	Brain Hippocampus Middle	brain
44	chr15:39110000-39110200	Active TSS	Stomach Smooth Muscle	stomach
45	chr15:39110000-39110400	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:39110000-39110400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr15:39110000-39110400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:39110000-39110400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr15:39110000-39110400	Active TSS	Brain Substantia Nigra	brain
50	chr15:39110000-39110400	Enhancers	Colon Smooth Muscle	Colon

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