Variant report

Variant	nsv569591
Chromosome Location	chr15:57754232-57764621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57761779..57763343-chr15:57766139..57768515,2	K562	blood:
2	chr15:57753396..57757139-chr15:57762848..57768344,4	K562	blood:
3	chr15:57760042..57761755-chr15:57765442..57768496,3	K562	blood:
4	chr15:57750506..57752282-chr15:57753554..57755712,2	K562	blood:
5	chr15:57745679..57747449-chr15:57751511..57754366,2	MCF-7	breast:
6	chr15:57753396..57757139-chr15:57762848..57768344,4	K562	blood:

Extended variants
information (count: 509 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:509 , 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	rs3825779	chr15:57754232-57754233	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369966992	chr15:57754260-57754261	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373179705	chr15:57754263-57754264	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377289736	chr15:57754271-57754272	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73419964	chr15:57754288-57754289	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78618046	chr15:57754289-57754290	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560396957	chr15:57754290-57754291	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529152952	chr15:57754291-57754292	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370741496	chr15:57754311-57754312	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12441519	chr15:57754316-57754317	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75374018	chr15:57754331-57754332	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568902029	chr15:57754374-57754375	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151337585	chr15:57754382-57754383	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555654948	chr15:57754411-57754412	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs140597843	chr15:57754430-57754431	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs150096626	chr15:57754463-57754464	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs527397283	chr15:57754468-57754469	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs575415497	chr15:57754469-57754470	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs78805325	chr15:57754500-57754501	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs535690017	chr15:57754563-57754564	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs112883497	chr15:57754642-57754643	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs74016210	chr15:57754646-57754647	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs569559844	chr15:57754685-57754686	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs148294111	chr15:57754694-57754695	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs537822469	chr15:57754757-57754758	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs185542129	chr15:57754818-57754819	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs80322745	chr15:57754852-57754853	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs190347038	chr15:57754872-57754873	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs4774942	chr15:57754873-57754874	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370311118	chr15:57754896-57754897	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs573865688	chr15:57754932-57754933	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181673108	chr15:57755008-57755009	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs553578643	chr15:57755038-57755039	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs112256152	chr15:57755044-57755045	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs200899840	chr15:57755072-57755073	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs578179178	chr15:57755073-57755074	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs562613352	chr15:57755084-57755085	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs540724065	chr15:57755105-57755106	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs114225493	chr15:57755116-57755117	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs185953534	chr15:57755174-57755175	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs564901470	chr15:57755184-57755185	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112638518	chr15:57755185-57755186	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs547079465	chr15:57755189-57755190	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs560681597	chr15:57755206-57755207	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs373299237	chr15:57755213-57755214	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs529423013	chr15:57755246-57755247	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs141661470	chr15:57755277-57755278	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs569415395	chr15:57755289-57755290	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs113665274	chr15:57755317-57755318	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs28578567	chr15:57755319-57755320	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Chronic lymphocytic leukemia	21546498	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57731200-57761800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:57732600-57768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:57732800-57755200	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:57736000-57767600	Weak transcription	Fetal Kidney	kidney
5	chr15:57738600-57756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:57738600-57767400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:57738600-57768800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:57739400-57756400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:57739600-57756600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:57741200-57756400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:57741200-57758400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:57741200-57766400	Strong transcription	Liver	Liver
13	chr15:57741600-57756200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:57742200-57756600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr15:57745800-57754400	Weak transcription	Brain Anterior Caudate	brain
16	chr15:57746200-57769400	Weak transcription	Aorta	Aorta
17	chr15:57749800-57754400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:57749800-57766400	Weak transcription	HepG2	liver
19	chr15:57749800-57787400	Weak transcription	Ovary	ovary
20	chr15:57750200-57769000	Weak transcription	Fetal Intestine Small	intestine
21	chr15:57750400-57754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:57751000-57769800	Weak transcription	Lung	lung
23	chr15:57751400-57769000	Weak transcription	Fetal Lung	lung
24	chr15:57752000-57760400	Weak transcription	Left Ventricle	heart
25	chr15:57752600-57754400	Weak transcription	HUVEC	blood vessel
26	chr15:57752600-57767200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:57753000-57754600	Enhancers	Placenta	Placenta
28	chr15:57753200-57768800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:57753400-57754400	Strong transcription	Pancreas	Pancrea
30	chr15:57753400-57754600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:57753600-57754400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr15:57753600-57756200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:57753600-57756400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:57753800-57756400	Enhancers	Brain Substantia Nigra	brain
35	chr15:57754000-57754400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:57754000-57754400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:57754000-57754600	Enhancers	NHDF-Ad	bronchial
38	chr15:57754000-57755000	Weak transcription	Fetal Heart	heart
39	chr15:57754000-57756000	Enhancers	Fetal Brain Female	brain
40	chr15:57754200-57754600	Genic enhancers	Fetal Stomach	stomach
41	chr15:57754200-57754800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:57754200-57754800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:57754200-57755000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:57754200-57755200	Enhancers	NH-A	brain
45	chr15:57754200-57755400	Bivalent Enhancer	Osteobl	bone
46	chr15:57754200-57756600	Enhancers	Brain Cingulate Gyrus	brain
47	chr15:57754200-57761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:57754200-57763400	Weak transcription	Gastric	stomach
49	chr15:57754200-57768600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr15:57754200-57769400	Weak transcription	H9 Cell Line	embryonic stem cell

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