Variant report

Variant	esv3375334
Chromosome Location	chr15:31594664-31595051
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	chr15:31592714..31596945-chr15:31609581..31612731,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566636940	chr15:31594665-31594666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs559695691	chr15:31594676-31594677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs2053212	chr15:31594680-31594681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542294179	chr15:31594701-31594702	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs186391538	chr15:31594774-31594775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530749154	chr15:31594807-31594808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs12915289	chr15:31594828-31594829	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs190860990	chr15:31594857-31594858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs570771528	chr15:31594903-31594904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs115442215	chr15:31594904-31594905	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs4779856	chr15:31595001-31595002	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566444895	chr15:31595023-31595024	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535222984	chr15:31595025-31595026	Bivalent Enhancer Weak transcription Enhancers	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	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
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31587200-31595000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr15:31588200-31597200	Enhancers	Brain Germinal Matrix	brain
3	chr15:31588600-31596600	Enhancers	Placenta	Placenta
4	chr15:31589000-31595200	Enhancers	Fetal Thymus	thymus
5	chr15:31589000-31598600	Enhancers	Thymus	Thymus
6	chr15:31589200-31597200	Enhancers	Brain Hippocampus Middle	brain
7	chr15:31589400-31595000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:31589400-31601800	Enhancers	Fetal Muscle Leg	muscle
9	chr15:31589600-31595200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:31589800-31595000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:31589800-31595200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:31590000-31595000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:31590000-31595000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:31590400-31600600	Enhancers	Brain Cingulate Gyrus	brain
15	chr15:31590600-31599600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:31590800-31595200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:31590800-31600600	Enhancers	Brain Substantia Nigra	brain
18	chr15:31591000-31595400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:31591200-31594800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:31591200-31595200	Weak transcription	Esophagus	oesophagus
21	chr15:31591400-31595400	Weak transcription	Fetal Intestine Small	intestine
22	chr15:31591400-31598400	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:31591400-31600600	Enhancers	Brain Anterior Caudate	brain
24	chr15:31591600-31600600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr15:31591800-31601400	Enhancers	Fetal Brain Male	brain
26	chr15:31592000-31595200	Weak transcription	K562	blood
27	chr15:31592000-31595400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:31592000-31598200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:31592000-31598800	Enhancers	Fetal Brain Female	brain
30	chr15:31592000-31599800	Enhancers	Brain Angular Gyrus	brain
31	chr15:31592400-31597000	Enhancers	Left Ventricle	heart
32	chr15:31592400-31601600	Enhancers	Spleen	Spleen
33	chr15:31592400-31602800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:31592600-31595400	Weak transcription	Fetal Intestine Large	intestine
35	chr15:31592600-31595400	Weak transcription	Hela-S3	cervix
36	chr15:31592600-31596000	Enhancers	Primary B cells from cord blood	blood
37	chr15:31592600-31596400	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:31592600-31596400	Enhancers	Colonic Mucosa	Colon
39	chr15:31592800-31595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:31592800-31595600	Enhancers	Fetal Stomach	stomach
41	chr15:31592800-31601800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr15:31593000-31595000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:31593000-31596200	Enhancers	Adipose Nuclei	Adipose
44	chr15:31593000-31596800	Enhancers	Right Atrium	heart
45	chr15:31593000-31596800	Enhancers	Right Ventricle	heart
46	chr15:31593000-31601200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:31593200-31595200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:31593200-31596800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:31593200-31602800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:31593400-31596200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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