Variant report

Variant	esv3395642
Chromosome Location	chr15:34185704-34187475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192142597	chr15:34185720-34185721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34918243	chr15:34185742-34185743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28580522	chr15:34185750-34185751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572791199	chr15:34185781-34185782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539714951	chr15:34185798-34185799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558331961	chr15:34185855-34185856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576517333	chr15:34185867-34185868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560513360	chr15:34185872-34185873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369384215	chr15:34185880-34185881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575582349	chr15:34185940-34185941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183863060	chr15:34185954-34185955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142635197	chr15:34186044-34186045	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111400104	chr15:34186056-34186057	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147612656	chr15:34186077-34186078	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546602320	chr15:34186088-34186089	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559692894	chr15:34186127-34186128	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527588830	chr15:34186132-34186133	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189662979	chr15:34186136-34186137	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34900043	chr15:34186152-34186153	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386382659	chr15:34186153-34186154	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386382660	chr15:34186166-34186167	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11463061	chr15:34186168-34186169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200558996	chr15:34186169-34186170	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554605	chr15:34186182-34186183	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531401740	chr15:34186212-34186213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144257161	chr15:34186220-34186221	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180792355	chr15:34186235-34186236	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147773923	chr15:34186276-34186277	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547832306	chr15:34186291-34186292	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186077943	chr15:34186312-34186313	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532617905	chr15:34186325-34186326	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140056804	chr15:34186347-34186348	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8028609	chr15:34186402-34186403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150488512	chr15:34186443-34186444	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537235679	chr15:34186458-34186459	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115041123	chr15:34186481-34186482	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76401275	chr15:34186498-34186499	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138342652	chr15:34186542-34186543	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557460	chr15:34186552-34186553	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116270996	chr15:34186591-34186592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190597750	chr15:34186604-34186605	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs618613	chr15:34186650-34186651	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531567856	chr15:34186664-34186665	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8027738	chr15:34186680-34186681	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs618574	chr15:34186684-34186685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529407505	chr15:34186700-34186701	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547868440	chr15:34186710-34186711	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71117190	chr15:34186717-34186718	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558166869	chr15:34186718-34186719	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112798347	chr15:34186725-34186726	Enhancers Flanking Active TSS 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34160000-34199400	Weak transcription	Left Ventricle	heart
2	chr15:34164400-34186400	Weak transcription	Right Atrium	heart
3	chr15:34185400-34186000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:34185400-34186400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:34185400-34186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:34185400-34186800	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:34185600-34185800	Enhancers	Brain Cingulate Gyrus	brain
8	chr15:34185600-34186000	Enhancers	Brain Substantia Nigra	brain
9	chr15:34185600-34186600	Enhancers	Brain Anterior Caudate	brain
10	chr15:34185600-34187000	Enhancers	GM12878-XiMat	blood
11	chr15:34185800-34186600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:34186000-34186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:34186400-34186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:34186600-34189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:34186800-34187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:34186800-34187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:34186800-34190400	Weak transcription	Osteobl	bone
18	chr15:34187000-34190400	Weak transcription	GM12878-XiMat	blood

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