Variant report

Variant	nsv974603
Chromosome Location	chr15:77272005-77276442
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	BHLHE40	chr15:77276076-77276270	GM12878	blood:	n/a	n/a
2	CHD2	chr15:77276026-77276031	GM12878	blood:	n/a	n/a
3	CTCF	chr15:77276131-77276165	GM19239	blood:	n/a	n/a
4	CTCF	chr15:77275920-77276070	HEK293	kidney:	n/a	n/a
5	EP300	chr15:77275979-77276179	GM12878	blood:	n/a	n/a
6	GATA3	chr15:77272859-77272985	SH-SY5Y	brain:	n/a	n/a
7	IRF1	chr15:77274155-77274394	K562	blood:	n/a	n/a
8	MAX	chr15:77275998-77276839	NB4	blood:	n/a	n/a
9	MAX	chr15:77274455-77274925	NB4	blood:	n/a	chr15:77274642-77274652
10	MYC	chr15:77274530-77274848	NB4	blood:	n/a	chr15:77274642-77274652
11	MYC	chr15:77276054-77276835	NB4	blood:	n/a	n/a
12	NFYA	chr15:77275391-77275401	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:77272380-77272494	Gliobla	brain:	n/a	n/a
14	REST	chr15:77271807-77272227	PFSK-1	brain:	n/a	chr15:77272052-77272061 chr15:77272048-77272061
15	REST	chr15:77271857-77272233	PFSK-1	brain:	n/a	chr15:77272052-77272061 chr15:77272048-77272061
16	SPI1	chr15:77275967-77276272	GM12891	blood:	n/a	n/a
17	SPI1	chr15:77276274-77276713	HL-60	blood:	n/a	chr15:77276439-77276452 chr15:77276495-77276508
18	SPI1	chr15:77275914-77276324	GM12891	blood:	n/a	n/a
19	SPI1	chr15:77275970-77276290	GM12878	blood:	n/a	n/a
20	SPI1	chr15:77276189-77276888	HL-60	blood:	n/a	chr15:77276439-77276452 chr15:77276495-77276508
21	USF2	chr15:77275995-77276141	Hela-S3	cervix:	n/a	n/a
22	WRNIP1	chr15:77275981-77276234	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77267832..77269910-chr15:77273846..77275783,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL278P	TF binding region
KRT8P23	TF binding region
ENSG00000243365	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541049843	chr15:77272011-77272012	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559085592	chr15:77272042-77272043	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530060178	chr15:77272045-77272046	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575706035	chr15:77272103-77272104	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188467920	chr15:77272109-77272110	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544415294	chr15:77272129-77272130	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181556297	chr15:77272145-77272146	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552069080	chr15:77272146-77272147	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571738034	chr15:77272192-77272193	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185929156	chr15:77272199-77272200	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554178342	chr15:77272236-77272237	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189644738	chr15:77272237-77272238	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536549923	chr15:77272266-77272267	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554813522	chr15:77272273-77272274	Weak transcription Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576245997	chr15:77272395-77272396	Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543644372	chr15:77272418-77272419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs180874053	chr15:77272455-77272456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576918937	chr15:77272464-77272465	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540762084	chr15:77272468-77272469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559311560	chr15:77272474-77272475	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs150638025	chr15:77272534-77272535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542169015	chr15:77272547-77272548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563606012	chr15:77272550-77272551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530800307	chr15:77272612-77272613	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs552393506	chr15:77272707-77272708	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564114453	chr15:77272717-77272718	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532646609	chr15:77272726-77272727	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs533483386	chr15:77272730-77272731	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs565758185	chr15:77272739-77272740	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs371334945	chr15:77272760-77272761	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs547267631	chr15:77272829-77272830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113593947	chr15:77272850-77272851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372782985	chr15:77272860-77272861	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs113415061	chr15:77272890-77272891	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs560323950	chr15:77272932-77272933	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs370440248	chr15:77272954-77272955	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs187223809	chr15:77272978-77272979	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs570043092	chr15:77273017-77273018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372644603	chr15:77273021-77273022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191102255	chr15:77273022-77273023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559148834	chr15:77273030-77273031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78960461	chr15:77273116-77273117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534722399	chr15:77273191-77273192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529297723	chr15:77273208-77273209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186199183	chr15:77273224-77273225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574566304	chr15:77273256-77273257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541872458	chr15:77273259-77273260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574922339	chr15:77273261-77273262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563268613	chr15:77273386-77273387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190182477	chr15:77273401-77273402	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77266400-77275000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:77266600-77280800	Weak transcription	Right Ventricle	heart
3	chr15:77267400-77275200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:77267600-77274800	Weak transcription	Brain Hippocampus Middle	brain
5	chr15:77267600-77275000	Weak transcription	Brain Substantia Nigra	brain
6	chr15:77269600-77274000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr15:77269600-77274000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:77269600-77275800	Weak transcription	Primary B cells from cord blood	blood
9	chr15:77269800-77274200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:77270200-77274800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:77271600-77272200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:77271600-77272400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:77272000-77272200	Enhancers	Spleen	Spleen
14	chr15:77272000-77280800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:77272200-77272400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:77272200-77275000	Weak transcription	Spleen	Spleen
17	chr15:77272200-77276000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:77272400-77280800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:77272600-77272800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr15:77274000-77274400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:77274000-77287200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr15:77274200-77276000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr15:77274400-77276800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr15:77274600-77276200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:77274600-77277000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:77274800-77275200	Enhancers	Placenta	Placenta
27	chr15:77274800-77275400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:77274800-77276200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:77274800-77276600	Enhancers	Brain Hippocampus Middle	brain
30	chr15:77275000-77275200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:77275000-77276200	Enhancers	Spleen	Spleen
32	chr15:77275000-77276600	Enhancers	Brain Substantia Nigra	brain
33	chr15:77275200-77276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr15:77275200-77276200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr15:77275200-77280200	Weak transcription	Placenta	Placenta
36	chr15:77275200-77280600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:77275400-77278600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:77275600-77276200	Enhancers	Brain Anterior Caudate	brain
39	chr15:77275800-77276200	Enhancers	Adipose Nuclei	Adipose
40	chr15:77275800-77276200	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:77275800-77276200	Enhancers	Brain Germinal Matrix	brain
42	chr15:77275800-77276200	Enhancers	Fetal Muscle Leg	muscle
43	chr15:77275800-77276800	Enhancers	GM12878-XiMat	blood
44	chr15:77275800-77277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:77275800-77277400	Enhancers	Primary B cells from cord blood	blood
46	chr15:77276000-77276200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:77276000-77276200	Enhancers	Fetal Muscle Trunk	muscle
48	chr15:77276000-77276800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:77276000-77276800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr15:77276000-77276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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