Variant report

Variant	nsv1036749
Chromosome Location	chr15:77884026-77912408
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:56)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:77904241..77907935-chr15:77912354..77915026,5	K562	blood:
2	chr15:77900844..77903141-chr15:77904661..77906674,2	K562	blood:
3	chr15:77891327..77896574-chr15:77898422..77902980,9	K562	blood:
4	chr15:77884788..77887533-chr15:77890079..77892791,3	K562	blood:
5	chr15:77866782..77869407-chr15:77890484..77892735,2	MCF-7	breast:
6	chr15:77894564..77896146-chr15:77898435..77900182,2	K562	blood:
7	chr15:77899584..77901870-chr15:77910990..77913716,3	K562	blood:
8	chr15:77890205..77893278-chr15:77923097..77926362,3	K562	blood:
9	chr15:77848268..77851249-chr15:77883793..77885346,2	MCF-7	breast:
10	chr15:77899424..77903075-chr15:77914224..77917029,3	K562	blood:
11	chr15:77901988..77905265-chr15:77907024..77909154,3	MCF-7	breast:
12	chr15:77898597..77902901-chr15:77907031..77910421,4	K562	blood:
13	chr15:77888337..77891310-chr15:77900138..77902706,2	MCF-7	breast:
14	chr15:77901709..77903452-chr15:77906613..77909214,2	MCF-7	breast:
15	chr15:77835384..77837203-chr15:77911255..77913813,2	MCF-7	breast:
16	chr15:77835573..77836399-chr15:77908014..77909056,3	MCF-7	breast:
17	chr15:77891099..77895017-chr15:77905947..77909078,4	K562	blood:
18	chr15:77908000..77910749-chr15:77912406..77914677,2	MCF-7	breast:
19	chr15:77891099..77895017-chr15:77905947..77909078,4	K562	blood:
20	chr15:77908642..77910166-chr15:77913466..77916078,2	MCF-7	breast:
21	chr15:77898597..77902901-chr15:77907031..77910421,4	K562	blood:
22	chr15:77884388..77887095-chr15:77890695..77892603,2	K562	blood:
23	chr15:77884388..77887095-chr15:77890695..77892603,2	K562	blood:
24	chr15:77896964..77898473-chr15:77923112..77926055,2	K562	blood:
25	chr15:77888337..77891310-chr15:77900138..77902706,2	MCF-7	breast:
26	chr15:77904297..77907501-chr15:77908507..77911725,4	K562	blood:
27	chr15:77883341..77886336-chr15:77886431..77889031,3	MCF-7	breast:
28	chr15:77904297..77907501-chr15:77908507..77911725,4	K562	blood:
29	chr15:77884788..77887533-chr15:77890079..77892791,3	K562	blood:
30	chr15:77901988..77905265-chr15:77907024..77909154,3	MCF-7	breast:
31	chr15:77909277..77910127-chr15:77925790..77926339,2	MCF-7	breast:
32	chr15:77904241..77907935-chr15:77912354..77915026,5	K562	blood:
33	chr15:77900844..77903141-chr15:77904661..77906674,2	K562	blood:
34	chr15:77883341..77886336-chr15:77886431..77889031,3	MCF-7	breast:
35	chr15:77910678..77912184-chr15:77913729..77916491,2	K562	blood:
36	chr15:77835734..77836523-chr15:77909574..77910418,2	MCF-7	breast:
37	chr15:77879443..77881773-chr15:77883698..77885210,2	K562	blood:
38	chr15:77897697..77899508-chr15:77917213..77919192,2	K562	blood:
39	chr15:77891327..77896574-chr15:77898422..77902980,9	K562	blood:
40	chr15:77901946..77904333-chr15:77939877..77941758,2	K562	blood:
41	chr15:77894564..77896146-chr15:77898435..77900182,2	K562	blood:
42	chr15:77879891..77882724-chr15:77887714..77890230,2	K562	blood:
43	chr15:77893403..77895031-chr15:77900449..77902980,2	K562	blood:
44	chr15:77895225..77896761-chr15:77915510..77917012,2	K562	blood:
45	chr15:77902198..77904238-chr15:77912623..77914841,2	K562	blood:
46	chr15:77890507..77893828-chr15:77894009..77899298,4	MCF-7	breast:
47	chr15:77912184..77913186-chr15:77925455..77926450,5	K562	blood:
48	chr15:77862030..77863568-chr15:77895689..77897664,2	MCF-7	breast:
49	chr15:77901709..77903452-chr15:77906613..77909214,2	MCF-7	breast:
50	chr15:77909817..77910574-chr15:77925500..77926398,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMG20A-2	chr15:77900882-77901023	ENSG00000259420.1

No data

Variant related genes	Relation type
ENSG00000169783	chromatin interactions

Extended variants
information (count: 1183 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1183 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs907374	chr15:77884026-77884027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567324011	chr15:77884029-77884030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561052859	chr15:77884056-77884057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535976184	chr15:77884087-77884088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182766250	chr15:77884099-77884100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59745219	chr15:77884130-77884131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571270311	chr15:77884145-77884146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59391831	chr15:77884186-77884187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs60440781	chr15:77884203-77884204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558474061	chr15:77884206-77884207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116472165	chr15:77884213-77884214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61240175	chr15:77884228-77884229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556023587	chr15:77884287-77884288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59235404	chr15:77884290-77884291	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549343664	chr15:77884305-77884306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554075046	chr15:77884313-77884314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58600827	chr15:77884322-77884323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542745031	chr15:77884323-77884324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187861671	chr15:77884352-77884353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545063460	chr15:77884374-77884375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140292955	chr15:77884474-77884475	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs2682905	chr15:77884504-77884505	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150387272	chr15:77884513-77884514	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs561223278	chr15:77884526-77884527	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531593319	chr15:77884560-77884561	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs543764632	chr15:77884572-77884573	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs369351206	chr15:77884584-77884585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs114332895	chr15:77884604-77884605	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs532181683	chr15:77884607-77884608	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531573749	chr15:77884611-77884612	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547448760	chr15:77884634-77884635	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565685974	chr15:77884635-77884636	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs2667759	chr15:77884642-77884643	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564802421	chr15:77884674-77884675	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377066313	chr15:77884714-77884715	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs549269951	chr15:77884741-77884742	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs73449001	chr15:77884760-77884761	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs538119999	chr15:77884789-77884790	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs556454504	chr15:77884829-77884830	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571290366	chr15:77884849-77884850	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138170686	chr15:77884862-77884863	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75500814	chr15:77884909-77884910	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76286731	chr15:77884911-77884912	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190781487	chr15:77884919-77884920	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554755799	chr15:77884950-77884951	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116554383	chr15:77884982-77884983	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7171141	chr15:77884996-77884997	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs2682904	chr15:77884998-77884999	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576907521	chr15:77885047-77885048	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540712074	chr15:77885182-77885183	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77875600-77890000	Weak transcription	Right Ventricle	heart
2	chr15:77875600-77892000	Weak transcription	Right Atrium	heart
3	chr15:77877400-77884400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:77881000-77890600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:77881400-77885200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:77882800-77884800	Enhancers	HepG2	liver
7	chr15:77882800-77887800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:77883200-77890800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:77883800-77884400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:77883800-77884600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:77883800-77896000	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:77884000-77884800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:77884000-77884800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr15:77884000-77885000	Enhancers	Fetal Heart	heart
15	chr15:77884200-77885200	Enhancers	Pancreas	Pancrea
16	chr15:77884400-77884600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:77884400-77884800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:77884400-77884800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr15:77884400-77885000	Enhancers	Ovary	ovary
20	chr15:77884600-77884800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:77884600-77885000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:77884600-77885000	Enhancers	Spleen	Spleen
23	chr15:77884800-77887400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:77884800-77888800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:77885000-77885200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:77885000-77885200	Enhancers	K562	blood
27	chr15:77885000-77887800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:77885000-77889000	Weak transcription	Spleen	Spleen
29	chr15:77885200-77887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:77885200-77890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:77886400-77886600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:77886600-77886800	Enhancers	Fetal Stomach	stomach
33	chr15:77887000-77888800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:77887200-77888600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:77887400-77888000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:77887800-77888000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:77887800-77888000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:77887800-77888200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:77887800-77888200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr15:77887800-77888200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:77887800-77888200	Enhancers	HUVEC	blood vessel
42	chr15:77888000-77888200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:77888000-77888200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr15:77888000-77888600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:77888000-77889200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:77888000-77890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:77888200-77888800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:77888200-77889200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:77888200-77890000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:77888200-77892000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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