Variant report

Variant	esv3328115
Chromosome Location	chr15:34003360-34007758
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	chr15:34006522..34008828-chr15:34013305..34015794,2	K562	blood:

Variant related genes	Relation type
ENSG00000200008	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57044454	chr15:34003377-34003378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563855109	chr15:34003388-34003389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149847191	chr15:34003435-34003436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77297029	chr15:34003436-34003437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143373949	chr15:34003437-34003438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs76655506	chr15:34003438-34003439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191994729	chr15:34003469-34003470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183479850	chr15:34003475-34003476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572679379	chr15:34003476-34003477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112377632	chr15:34003483-34003484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188468489	chr15:34003484-34003485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs546847433	chr15:34003496-34003497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113235237	chr15:34003510-34003511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532787081	chr15:34003521-34003522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550885335	chr15:34003530-34003531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540374037	chr15:34003531-34003532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567944843	chr15:34003559-34003560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs8033768	chr15:34003569-34003570	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200780064	chr15:34003596-34003597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs191613776	chr15:34003597-34003598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555424882	chr15:34003637-34003638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567238880	chr15:34003660-34003661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571766614	chr15:34003661-34003662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112106690	chr15:34003680-34003681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113828105	chr15:34003690-34003691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182625156	chr15:34003695-34003696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545231906	chr15:34003696-34003697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs8029607	chr15:34003724-34003725	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544229856	chr15:34003732-34003733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs8029002	chr15:34003739-34003740	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28759402	chr15:34003812-34003813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186640040	chr15:34003832-34003833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35073118	chr15:34003835-34003836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74867702	chr15:34003845-34003846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs556720399	chr15:34003846-34003847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575504151	chr15:34003862-34003863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540227211	chr15:34003891-34003892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112314276	chr15:34003913-34003914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532679073	chr15:34003984-34003985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551181858	chr15:34004014-34004015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34781018	chr15:34004051-34004052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191439975	chr15:34004062-34004063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61356371	chr15:34004076-34004077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557801110	chr15:34004105-34004106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148105849	chr15:34004109-34004110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549060238	chr15:34004125-34004126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113542631	chr15:34004210-34004211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12910954	chr15:34004222-34004223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs534652548	chr15:34004228-34004229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138299239	chr15:34004247-34004248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33993000-34034200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:33993000-34034600	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:33993600-34016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:34001400-34003400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr15:34001600-34004000	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr15:34002600-34003400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
7	chr15:34002600-34015800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:34003000-34023600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:34003200-34007800	Weak transcription	Aorta	Aorta
10	chr15:34003200-34013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:34003200-34014800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:34003200-34015600	Weak transcription	Brain Anterior Caudate	brain
13	chr15:34003400-34005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:34003400-34018400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:34004000-34015000	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:34004600-34017400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:34005400-34005800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:34005600-34006200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:34005800-34013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:34006400-34008200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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