Variant report

Variant	nsv523361
Chromosome Location	chr15:33887767-33890542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs660403	chr15:33887767-33887768	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372911360	chr15:33887801-33887802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137934330	chr15:33887825-33887826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8025132	chr15:33887836-33887837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569209569	chr15:33887861-33887862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs633138	chr15:33887880-33887881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185597024	chr15:33887883-33887884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189634297	chr15:33887921-33887922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534763803	chr15:33887944-33887945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552684435	chr15:33887960-33887961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571183601	chr15:33888023-33888024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532519636	chr15:33888024-33888025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7164344	chr15:33888033-33888034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs62010493	chr15:33888035-33888036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543325092	chr15:33888043-33888044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181558412	chr15:33888062-33888063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4447392	chr15:33888064-33888065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554777168	chr15:33888177-33888178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs631803	chr15:33888178-33888179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143018457	chr15:33888244-33888245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572551132	chr15:33888276-33888277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56312785	chr15:33888277-33888278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397747280	chr15:33888286-33888287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184364101	chr15:33888295-33888296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532324037	chr15:33888314-33888315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148380646	chr15:33888315-33888316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs607247	chr15:33888339-33888340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs607264	chr15:33888349-33888350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548374264	chr15:33888350-33888351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563186625	chr15:33888353-33888354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560779408	chr15:33888465-33888466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189161567	chr15:33888480-33888481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530197703	chr15:33888490-33888491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1495285	chr15:33888497-33888498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571277438	chr15:33888547-33888548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538603930	chr15:33888573-33888574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs608508	chr15:33888589-33888590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181151237	chr15:33888595-33888596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536595618	chr15:33888619-33888620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77660978	chr15:33888696-33888697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71454518	chr15:33888697-33888698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114681123	chr15:33888698-33888699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200678516	chr15:33888703-33888704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572949616	chr15:33888729-33888730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186497190	chr15:33888737-33888738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35644865	chr15:33888753-33888754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544180693	chr15:33888766-33888767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562593072	chr15:33888775-33888776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150878849	chr15:33888776-33888777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542468069	chr15:33888783-33888784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33858000-33921200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:33858600-33895200	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:33859200-33923200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:33873000-33923400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:33873800-33895200	Weak transcription	Aorta	Aorta
6	chr15:33879600-33892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:33879600-33893200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:33883800-33893400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:33885200-33891600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:33886000-33887800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr15:33887200-33889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:33888000-33888800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:33888200-33889000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:33889000-33889200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:33889000-33889200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr15:33889000-33890200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:33889200-33889400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:33889200-33889400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr15:33889200-33890200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:33889200-33894000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr15:33889400-33889800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:33889400-33890200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:33889600-33889800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:33889800-33892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:33889800-33892800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr15:33890200-33890400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:33890200-33890600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr15:33890200-33890800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:33890400-33890600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr15:33890400-33890800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr15:33890400-33894000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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