Variant report

Variant	nsv869747
Chromosome Location	chr15:72372245-72403103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:72402687-72403203	HepG2	liver:	n/a	n/a
2	BCL3	chr15:72402707-72403203	A549	lung:	n/a	n/a
3	CEBPB	chr15:72402709-72403232	A549	lung:	n/a	n/a
4	CEBPB	chr15:72390648-72390890	HepG2	liver:	n/a	chr15:72390741-72390752
5	CEBPB	chr15:72402826-72403026	HepG2	liver:	n/a	n/a
6	CEBPB	chr15:72395416-72395749	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr15:72395429-72395522	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr15:72390575-72390900	K562	blood:	n/a	chr15:72390741-72390752
9	CEBPB	chr15:72395315-72395674	MCF-7	breast:	n/a	n/a
10	CEBPB	chr15:72395404-72395606	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr15:72395338-72395630	IMR90	lung:	n/a	n/a
12	CEBPB	chr15:72402810-72403001	A549	lung:	n/a	n/a
13	CEBPB	chr15:72395407-72395583	A549	lung:	n/a	n/a
14	CEBPB	chr15:72395417-72395537	K562	blood:	n/a	n/a
15	CTCF	chr15:72378260-72378410	RPTEC	kidney:	n/a	n/a
16	CTCF	chr15:72378320-72378470	SAEC	small airway:	n/a	n/a
17	CTCF	chr15:72378331-72378479	HepG2	liver:	n/a	n/a
18	CTCF	chr15:72378593-72378600	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:72378382-72378455	GM19238	blood:	n/a	n/a
20	CTCF	chr15:72378345-72378449	NHEK	skin:	n/a	n/a
21	CTCF	chr15:72378280-72378430	MCF-7	breast:	n/a	n/a
22	CTCF	chr15:72378531-72378580	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:72378308-72378522	MCF-7	breast:	n/a	n/a
24	CTCF	chr15:72378315-72378539	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:72383432-72383510	LNCaP	prostate:	n/a	n/a
26	CTCF	chr15:72378326-72378486	MCF-7	breast:	n/a	n/a
27	CTCF	chr15:72378306-72378525	MCF-7	breast:	n/a	n/a
28	CTCF	chr15:72378867-72378949	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:72378303-72378513	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:72378316-72378655	MCF-7	breast:	n/a	n/a
31	CTCF	chr15:72378342-72378466	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr15:72378829-72378967	MCF-7	breast:	n/a	n/a
33	CUX1	chr15:72385300-72385313	GM12878	blood:	n/a	n/a
34	CUX1	chr15:72400450-72400732	K562	blood:	n/a	n/a
35	EP300	chr15:72402551-72403286	A549	lung:	n/a	chr15:72402842-72402852
36	EP300	chr15:72402557-72403271	A549	lung:	n/a	chr15:72402842-72402852
37	FOS	chr15:72399499-72399762	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr15:72399440-72399785	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr15:72399439-72399773	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr15:72402702-72403262	A549	lung:	n/a	n/a
41	FOSL2	chr15:72402706-72403138	A549	lung:	n/a	n/a
42	FOXA1	chr15:72402675-72403101	HepG2	liver:	n/a	n/a
43	FOXA1	chr15:72402711-72403022	T-47D	breast:	n/a	n/a
44	FOXA1	chr15:72402688-72402995	HepG2	liver:	n/a	n/a
45	FOXA1	chr15:72402680-72403099	HepG2	liver:	n/a	n/a
46	FOXA2	chr15:72402692-72403043	HepG2	liver:	n/a	n/a
47	FOXA2	chr15:72402780-72403269	HepG2	liver:	n/a	n/a
48	FOXA2	chr15:72402584-72403249	A549	lung:	n/a	n/a
49	GABPA	chr15:72402725-72403092	A549	lung:	n/a	n/a
50	GATA1	chr15:72388885-72389555	PBDE	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72383759..72385848-chr15:72409093..72411983,2	MCF-7	breast:
2	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
3	chr15:72399130..72400833-chr15:72405712..72408016,2	MCF-7	breast:
4	chr15:72394985..72397263-chr15:72398518..72401032,2	MCF-7	breast:
5	chr15:72399406..72401734-chr15:72404487..72406226,2	K562	blood:
6	chr15:72394930..72397507-chr15:72409085..72411660,2	MCF-7	breast:
7	chr15:72393359..72395081-chr15:72408256..72411185,2	K562	blood:
8	chr15:72398905..72401840-chr15:72409196..72411848,3	K562	blood:
9	chr15:72394985..72397263-chr15:72398518..72401032,2	MCF-7	breast:
10	chr15:72401062..72403312-chr15:72406877..72409075,2	K562	blood:
11	chr15:72378259..72378845-chr15:72448189..72448926,2	MCF-7	breast:
12	chr15:72398664..72401840-chr15:72410348..72413852,3	K562	blood:
13	chr15:72380042..72381883-chr15:72383169..72385505,2	MCF-7	breast:
14	chr15:72398211..72399947-chr15:72411763..72414182,2	MCF-7	breast:
15	chr15:72398478..72400917-chr15:72408968..72411115,2	MCF-7	breast:

No data

Variant related genes	Relation type
SENP8	TF binding region
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions

Extended variants
information (count: 1151 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571492381	chr15:72372256-72372257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138336345	chr15:72372402-72372403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531853443	chr15:72372605-72372606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371427170	chr15:72372608-72372609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537865554	chr15:72372622-72372623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556250869	chr15:72372628-72372629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374292426	chr15:72372648-72372649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560053912	chr15:72372649-72372650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397692119	chr15:72372666-72372667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577822735	chr15:72372795-72372796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544867512	chr15:72372804-72372805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142320787	chr15:72372805-72372806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12439689	chr15:72372816-72372817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571560966	chr15:72372841-72372842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62024421	chr15:72372854-72372855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376891130	chr15:72372862-72372863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561046956	chr15:72372930-72372931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137908019	chr15:72372952-72372953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58059321	chr15:72372962-72372963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561802785	chr15:72372971-72372972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531551716	chr15:72372985-72372986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543421732	chr15:72373106-72373107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565026461	chr15:72373107-72373108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8029927	chr15:72373126-72373127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532514073	chr15:72373180-72373181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369239445	chr15:72373187-72373188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189345864	chr15:72373219-72373220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181799704	chr15:72373284-72373285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530248530	chr15:72373321-72373322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548838455	chr15:72373346-72373347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544324665	chr15:72373426-72373427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570370353	chr15:72373438-72373439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537801326	chr15:72373440-72373441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556236493	chr15:72373454-72373455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571362929	chr15:72373456-72373457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143604259	chr15:72373531-72373532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553600349	chr15:72373556-72373557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548701921	chr15:72373559-72373560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372564641	chr15:72373570-72373571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542460091	chr15:72373571-72373572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12439900	chr15:72373640-72373641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs575968228	chr15:72373646-72373647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543405781	chr15:72373670-72373671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370461497	chr15:72373746-72373747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148052695	chr15:72373747-72373748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373904504	chr15:72373769-72373770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531251453	chr15:72373774-72373775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201016096	chr15:72373840-72373841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147681978	chr15:72373841-72373842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397704073	chr15:72373844-72373845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72353600-72379600	Weak transcription	Primary T cells from cord blood	blood
3	chr15:72354000-72378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:72354400-72374800	Weak transcription	Psoas Muscle	Psoas
5	chr15:72355800-72376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:72361600-72377400	Weak transcription	Fetal Intestine Small	intestine
7	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
8	chr15:72361600-72391400	Weak transcription	Ovary	ovary
9	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:72367800-72377400	Weak transcription	Fetal Stomach	stomach
11	chr15:72370000-72378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:72370800-72374800	Weak transcription	Right Ventricle	heart
13	chr15:72370800-72378600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:72371200-72374600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:72371200-72377400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:72371400-72374400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:72371400-72376800	Weak transcription	Fetal Brain Female	brain
18	chr15:72371400-72379600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:72372200-72378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:72373200-72373600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:72373600-72378400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:72374000-72375400	Enhancers	HSMMtube	muscle
25	chr15:72374400-72375400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr15:72374600-72375200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:72374800-72375000	Enhancers	Right Ventricle	heart
28	chr15:72374800-72375400	Enhancers	Psoas Muscle	Psoas
29	chr15:72375000-72379400	Weak transcription	Right Ventricle	heart
30	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
31	chr15:72375200-72376600	Weak transcription	Fetal Lung	lung
32	chr15:72375200-72378800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:72375400-72376800	Weak transcription	HSMMtube	muscle
34	chr15:72375400-72377800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:72375400-72378400	Weak transcription	Psoas Muscle	Psoas
36	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:72376200-72377000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:72376400-72378400	Weak transcription	Esophagus	oesophagus
39	chr15:72376400-72381400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:72376600-72377000	Strong transcription	Fetal Lung	lung
41	chr15:72376800-72377000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr15:72376800-72377200	ZNF genes & repeats	Fetal Brain Female	brain
43	chr15:72376800-72379000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:72376800-72379200	Enhancers	HSMMtube	muscle
45	chr15:72377000-72378000	Weak transcription	Fetal Lung	lung
46	chr15:72377000-72378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:72377000-72379800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:72377200-72388200	Weak transcription	Fetal Brain Female	brain
49	chr15:72377400-72377600	ZNF genes & repeats	Fetal Stomach	stomach
50	chr15:72377400-72378600	ZNF genes & repeats	Fetal Intestine Small	intestine

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