Variant report

Variant	esv3427410
Chromosome Location	chr15:76910143-76910697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535690890	chr15:76910154-76910155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184599111	chr15:76910161-76910162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545907152	chr15:76910172-76910173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150759752	chr15:76910220-76910221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139153596	chr15:76910262-76910263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149949111	chr15:76910320-76910321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568057531	chr15:76910329-76910330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs367648668	chr15:76910358-76910359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188669040	chr15:76910491-76910492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372928826	chr15:76910508-76910509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568946538	chr15:76910522-76910523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539280679	chr15:76910625-76910626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558602270	chr15:76910653-76910654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570580667	chr15:76910684-76910685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534809740	chr15:76910688-76910689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood
3	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
4	chr15:76901000-76917200	Weak transcription	Gastric	stomach
5	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr15:76902800-76926400	Weak transcription	Dnd41	blood
8	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
9	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:76904400-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:76904400-76923600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
15	chr15:76905000-76941000	Weak transcription	Ovary	ovary
16	chr15:76905800-76915800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:76906000-76919000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:76906400-76913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:76906400-76917600	Weak transcription	Thymus	Thymus
21	chr15:76906600-76918600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr15:76906800-76917400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:76907800-76917000	Weak transcription	Fetal Stomach	stomach
24	chr15:76907800-76917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:76908000-76918200	Weak transcription	Stomach Mucosa	stomach
26	chr15:76908200-76911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:76908600-76928200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr15:76908800-76928400	Weak transcription	Psoas Muscle	Psoas
29	chr15:76909000-76917400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:76909400-76917000	Weak transcription	Fetal Intestine Large	intestine
31	chr15:76909600-76910200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr15:76909600-76910200	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr15:76909600-76910200	ZNF genes & repeats	Liver	Liver
34	chr15:76909600-76910200	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr15:76909600-76910200	Strong transcription	Left Ventricle	heart
36	chr15:76909600-76910200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr15:76909800-76910200	ZNF genes & repeats	Brain Angular Gyrus	brain
38	chr15:76909800-76910200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
39	chr15:76909800-76910200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr15:76909800-76910200	ZNF genes & repeats	Spleen	Spleen
41	chr15:76909800-76910400	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr15:76909800-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:76909800-76910600	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr15:76909800-76917600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:76910000-76910200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr15:76910000-76910200	ZNF genes & repeats	Esophagus	oesophagus
47	chr15:76910000-76910400	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr15:76910000-76915400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:76910000-76917000	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:76910000-76964200	Weak transcription	Brain Hippocampus Middle	brain

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