Variant report

Variant	esv3326811
Chromosome Location	chr15:34472885-34475433
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	chr15:34474173..34475997-chr15:34500138..34502124,2	MCF-7	breast:

Extended variants
information (count: 136 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573589401	chr15:34472886-34472887	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564161051	chr15:34472925-34472926	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539927193	chr15:34472942-34472943	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187557531	chr15:34472987-34472988	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559043095	chr15:34473011-34473012	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532967800	chr15:34473034-34473035	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551157438	chr15:34473051-34473052	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201889997	chr15:34473064-34473065	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563382243	chr15:34473066-34473067	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138472709	chr15:34473081-34473082	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369297436	chr15:34473091-34473092	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142991230	chr15:34473179-34473180	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs191992595	chr15:34473254-34473255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59586699	chr15:34473258-34473259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547294145	chr15:34473282-34473283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571515809	chr15:34473345-34473346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113074640	chr15:34473367-34473368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539007659	chr15:34473395-34473396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16958848	chr15:34473457-34473458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs536390800	chr15:34473472-34473473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73378144	chr15:34473473-34473474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs562375827	chr15:34473549-34473550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184185597	chr15:34473582-34473583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371269365	chr15:34473671-34473672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540901683	chr15:34473690-34473691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189770588	chr15:34473740-34473741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369431006	chr15:34473752-34473753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577896808	chr15:34473758-34473759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201523678	chr15:34473773-34473774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117017516	chr15:34473781-34473782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117305737	chr15:34473783-34473784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67054758	chr15:34473784-34473785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551875824	chr15:34473786-34473787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370874556	chr15:34473804-34473805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8037852	chr15:34473805-34473806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8039028	chr15:34473807-34473808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112406510	chr15:34473818-34473819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192888505	chr15:34473820-34473821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71119941	chr15:34473822-34473823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372082219	chr15:34473825-34473826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12900335	chr15:34473829-34473830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62016512	chr15:34473842-34473843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62016513	chr15:34473843-34473844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374051583	chr15:34473845-34473846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62016514	chr15:34473853-34473854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62016515	chr15:34473854-34473855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62016516	chr15:34473855-34473856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62016517	chr15:34473865-34473866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199717503	chr15:34473869-34473870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62016518	chr15:34473878-34473879	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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34453600-34474600	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:34454000-34477400	Weak transcription	HSMM	muscle
3	chr15:34454200-34497800	Weak transcription	Osteobl	bone
4	chr15:34454600-34501200	Weak transcription	Colonic Mucosa	Colon
5	chr15:34454800-34501000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:34459000-34478400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:34464600-34500400	Weak transcription	Hela-S3	cervix
8	chr15:34464800-34477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:34465000-34477800	Weak transcription	Thymus	Thymus
10	chr15:34466400-34500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:34466600-34473400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:34466600-34482800	Weak transcription	NHDF-Ad	bronchial
13	chr15:34466800-34475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:34466800-34477400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:34466800-34477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:34466800-34477600	Weak transcription	Primary B cells from cord blood	blood
17	chr15:34467000-34475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:34467000-34477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:34467000-34500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:34467200-34478400	Weak transcription	Lung	lung
21	chr15:34467200-34491400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:34467200-34500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:34467400-34486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:34468000-34478400	Weak transcription	Dnd41	blood
25	chr15:34468000-34496400	Weak transcription	Fetal Lung	lung
26	chr15:34468000-34497800	Weak transcription	NHEK	skin
27	chr15:34468200-34475200	Weak transcription	A549	lung
28	chr15:34468200-34478200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:34468200-34485800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:34468200-34498000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:34468400-34477000	Weak transcription	Primary T cells from cord blood	blood
32	chr15:34468600-34475400	Weak transcription	Placenta	Placenta
33	chr15:34468600-34480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:34468800-34477400	Weak transcription	Fetal Stomach	stomach
35	chr15:34469200-34477200	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:34469600-34475200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:34469800-34475200	Weak transcription	Left Ventricle	heart
38	chr15:34470200-34474600	Weak transcription	HUVEC	blood vessel
39	chr15:34470200-34475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:34470200-34477400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:34470400-34477800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:34471000-34473200	Enhancers	Brain Hippocampus Middle	brain
43	chr15:34471000-34501000	Weak transcription	Aorta	Aorta
44	chr15:34471200-34473000	Enhancers	Brain Anterior Caudate	brain
45	chr15:34471200-34473000	Enhancers	Brain Substantia Nigra	brain
46	chr15:34471400-34481000	Weak transcription	Brain Angular Gyrus	brain
47	chr15:34471600-34473000	Enhancers	HepG2	liver
48	chr15:34471600-34500400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:34471800-34477400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr15:34472200-34473200	Enhancers	Cortex derived primary cultured neurospheres	brain

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