Variant report

Variant	nsv518393
Chromosome Location	chr15:33564482-33576883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33573100..33575784-chr15:33581090..33583055,2	K562	blood:
2	chr15:33525633..33527144-chr15:33569838..33571405,2	MCF-7	breast:

Extended variants
information (count: 407 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78120095	chr15:33567220-33567221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140930577	chr15:33567226-33567227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150385472	chr15:33567300-33567301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147551471	chr15:33567368-33567369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537676436	chr15:33567423-33567424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544795221	chr15:33567472-33567473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549590664	chr15:33567507-33567508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11072373	chr15:33567517-33567518	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535341155	chr15:33567535-33567536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375479822	chr15:33567575-33567576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34943363	chr15:33567620-33567621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553352528	chr15:33567646-33567647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572025588	chr15:33567660-33567661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193094138	chr15:33567690-33567691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200833281	chr15:33567716-33567717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13329628	chr15:33567718-33567719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74461299	chr15:33567747-33567748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138186655	chr15:33567751-33567752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561540430	chr15:33567759-33567760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573453823	chr15:33567763-33567764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540936196	chr15:33567818-33567819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183511197	chr15:33567829-33567830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187476652	chr15:33567834-33567835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8031464	chr15:33567839-33567840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377527971	chr15:33567867-33567868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142192563	chr15:33567881-33567882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528625246	chr15:33567945-33567946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547062336	chr15:33567977-33567978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531024165	chr15:33567981-33567982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549453664	chr15:33568064-33568065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192028336	chr15:33568068-33568069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145912166	chr15:33568079-33568080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376858118	chr15:33568125-33568126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138725078	chr15:33568141-33568142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8032012	chr15:33568181-33568182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78712090	chr15:33568206-33568207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569020514	chr15:33568220-33568221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142777009	chr15:33568232-33568233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539542556	chr15:33568257-33568258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569456852	chr15:33568271-33568272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115452875	chr15:33568292-33568293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555002553	chr15:33568366-33568367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573515237	chr15:33568406-33568407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566549315	chr15:33568522-33568523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78512786	chr15:33568585-33568586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184625537	chr15:33568603-33568604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577851875	chr15:33568723-33568724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11072374	chr15:33568763-33568764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs569379507	chr15:33568769-33568770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59116296	chr15:33568786-33568787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Hodgkin''s lymphoma	17606441	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	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
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Prader-willi syndrome	21504564	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33567200-33567600	ZNF genes & repeats	Gastric	stomach
2	chr15:33567600-33568000	Weak transcription	Gastric	stomach
3	chr15:33567600-33571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:33567800-33568000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:33568000-33568200	Enhancers	Gastric	stomach
6	chr15:33568000-33571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:33568200-33568400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr15:33568600-33569000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr15:33568600-33569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:33569000-33569400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:33569200-33569400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:33569400-33569600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr15:33569400-33570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:33569400-33571200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:33569600-33570600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr15:33569600-33570800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:33569800-33572200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:33570000-33571000	Enhancers	A549	lung
19	chr15:33570000-33571200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:33570400-33571400	Enhancers	NHEK	skin
21	chr15:33570400-33572200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:33570400-33572200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr15:33570600-33571000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:33570600-33571400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:33570600-33571800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:33570600-33572400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:33570600-33572400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:33570600-33572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:33570600-33572400	Enhancers	HMEC	breast
30	chr15:33570800-33571000	Bivalent Enhancer	Osteobl	bone
31	chr15:33570800-33572000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr15:33570800-33572200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:33570800-33572200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr15:33570800-33572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:33570800-33572400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr15:33571000-33571600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:33571000-33571800	Enhancers	NHDF-Ad	bronchial
38	chr15:33571000-33572200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:33571000-33572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:33571000-33572200	Flanking Active TSS	A549	lung
41	chr15:33571000-33572200	Enhancers	HUVEC	blood vessel
42	chr15:33571000-33572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:33571000-33572400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:33571000-33572400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:33571000-33572400	Enhancers	NH-A	brain
46	chr15:33571000-33572400	Enhancers	Osteobl	bone
47	chr15:33571200-33571400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:33571200-33571600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr15:33571200-33571600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:33571200-33571800	Enhancers	H1 Cell Line	embryonic stem cell

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