Variant report

Variant	nsv1049886
Chromosome Location	chr15:76902167-76915225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:76907137-76907384	GM12878	blood:	n/a	n/a
2	BATF	chr15:76907151-76907359	GM12878	blood:	n/a	n/a
3	CEBPB	chr15:76908855-76909056	HepG2	liver:	n/a	chr15:76908970-76908981
4	E2F4	chr15:76908851-76909148	MCF10A-Er-Src	breast:	n/a	chr15:76909112-76909121
5	JUN	chr15:76908819-76909010	HepG2	liver:	n/a	chr15:76908879-76908892
6	MAFK	chr15:76909563-76909816	HepG2	liver:	n/a	chr15:76909671-76909686
7	MAFK	chr15:76909554-76909754	HepG2	liver:	n/a	chr15:76909671-76909686
8	NFIC	chr15:76906959-76907386	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:76910505-76910585	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:76908606-76908747	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr15:76912273-76912366	Gliobla	brain:	n/a	n/a
12	POLR2A	chr15:76908057-76908119	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:76910502-76910503	A549	lung:	n/a	n/a
14	POLR2A	chr15:76910508-76910585	A549	lung:	n/a	n/a
15	POLR2A	chr15:76910040-76910053	Gliobla	brain:	n/a	n/a
16	POLR2A	chr15:76912273-76912390	A549	lung:	n/a	n/a
17	POLR2A	chr15:76912277-76912357	MCF-7	breast:	n/a	n/a
18	RUNX3	chr15:76907146-76907395	GM12878	blood:	n/a	n/a
19	STAT3	chr15:76912527-76912591	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr15:76906407-76906633	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SCAPER	TF binding region

Extended variants
information (count: 447 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552237738	chr15:76902171-76902172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35252206	chr15:76902226-76902227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28469368	chr15:76902227-76902228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2468118	chr15:76902257-76902258	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546589313	chr15:76902276-76902277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149144220	chr15:76902294-76902295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535701819	chr15:76902312-76902313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557021372	chr15:76902323-76902324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575387412	chr15:76902327-76902328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140759224	chr15:76902338-76902339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183571956	chr15:76902348-76902349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558990882	chr15:76902372-76902373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577241443	chr15:76902386-76902387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541144905	chr15:76902426-76902427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559283995	chr15:76902496-76902497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10851888	chr15:76902506-76902507	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs11852924	chr15:76902523-76902524	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188169559	chr15:76902550-76902551	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs531117460	chr15:76902569-76902570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552523409	chr15:76902626-76902627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192790180	chr15:76902628-76902629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528159299	chr15:76902631-76902632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546721934	chr15:76902632-76902633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568060258	chr15:76902675-76902676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558065642	chr15:76902698-76902699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535485112	chr15:76902708-76902709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs184929158	chr15:76902779-76902780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569087385	chr15:76902791-76902792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs539745045	chr15:76902811-76902812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557637216	chr15:76902840-76902841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572713324	chr15:76902846-76902847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187450606	chr15:76902871-76902872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553094698	chr15:76902898-76902899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34521366	chr15:76902962-76902963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535771037	chr15:76902966-76902967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191523882	chr15:76902973-76902974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541889620	chr15:76902994-76902995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575462864	chr15:76903043-76903044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557609472	chr15:76903100-76903101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143278466	chr15:76903136-76903137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148334578	chr15:76903149-76903150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1867196	chr15:76903159-76903160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184774329	chr15:76903216-76903217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530529227	chr15:76903283-76903284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540321612	chr15:76903330-76903331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75660971	chr15:76903335-76903336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150117454	chr15:76903352-76903353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189601607	chr15:76903465-76903466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550281832	chr15:76903488-76903489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146378941	chr15:76903494-76903495	Weak transcription ZNF genes & repeats	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:136 , 50 per page) page: 1 2 3

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	chr15:76898000-76902600	Weak transcription	Ovary	ovary
4	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
5	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
6	chr15:76899800-76904400	Weak transcription	Lung	lung
7	chr15:76900800-76902600	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr15:76900800-76902600	ZNF genes & repeats	Fetal Stomach	stomach
9	chr15:76901000-76902400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:76901000-76902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:76901000-76902600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr15:76901000-76917200	Weak transcription	Gastric	stomach
13	chr15:76901200-76902400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:76901400-76902800	ZNF genes & repeats	Dnd41	blood
15	chr15:76901400-76902800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr15:76902000-76903400	Weak transcription	Primary T cells from cord blood	blood
17	chr15:76902200-76902800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr15:76902200-76903600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:76902600-76907400	Weak transcription	Fetal Stomach	stomach
20	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:76902800-76926400	Weak transcription	Dnd41	blood
23	chr15:76903400-76904000	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
25	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:76904000-76905000	ZNF genes & repeats	Liver	Liver
28	chr15:76904000-76908200	Weak transcription	Primary T cells from cord blood	blood
29	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:76904400-76905000	ZNF genes & repeats	Lung	lung
31	chr15:76904400-76905000	ZNF genes & repeats	Ovary	ovary
32	chr15:76904400-76910400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:76904400-76923600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:76904600-76904800	ZNF genes & repeats	Aorta	Aorta
35	chr15:76904800-76905800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr15:76904800-76939800	Weak transcription	Aorta	Aorta
37	chr15:76905000-76907600	Weak transcription	Lung	lung
38	chr15:76905000-76941000	Weak transcription	Ovary	ovary
39	chr15:76905200-76908200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:76905400-76908600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:76905600-76905800	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr15:76905800-76906200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr15:76905800-76909800	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:76905800-76915800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:76906000-76919000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:76906200-76910000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:76906400-76908800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:76906400-76913600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:76906400-76917600	Weak transcription	Thymus	Thymus

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