Variant report

Variant	nsv904080
Chromosome Location	chr15:37455975-37551072
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	ARID3A	chr15:37473653-37473805	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:37498898-37499123	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:37513761-37513897	K562	blood:	n/a	n/a
4	ARID3A	chr15:37511374-37511917	HepG2	liver:	n/a	n/a
5	ATF3	chr15:37509843-37509968	HepG2	liver:	n/a	n/a
6	BRCA1	chr15:37471412-37471453	GM12878	blood:	n/a	n/a
7	BRCA1	chr15:37474284-37474316	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr15:37513552-37514068	K562	blood:	n/a	chr15:37513704-37513724
9	CEBPB	chr15:37509851-37510015	HepG2	liver:	n/a	chr15:37509961-37509972
10	CEBPB	chr15:37511817-37512037	IMR90	lung:	n/a	chr15:37511943-37511954 chr15:37511943-37511956
11	CEBPB	chr15:37509808-37510131	MCF-7	breast:	n/a	chr15:37509961-37509972
12	CEBPB	chr15:37509751-37510104	HepG2	liver:	n/a	chr15:37509961-37509972
13	CEBPB	chr15:37546436-37546599	IMR90	lung:	n/a	chr15:37546533-37546546 chr15:37546535-37546546 chr15:37546533-37546546
14	CEBPB	chr15:37519188-37519446	HepG2	liver:	n/a	chr15:37519300-37519311
15	CEBPB	chr15:37509797-37510036	K562	blood:	n/a	chr15:37509961-37509972
16	CEBPB	chr15:37511354-37512058	HepG2	liver:	n/a	chr15:37511943-37511954 chr15:37511615-37511626 chr15:37511943-37511956
17	CEBPB	chr15:37481466-37481667	HepG2	liver:	n/a	chr15:37481493-37481504
18	CEBPB	chr15:37511299-37511669	MCF-7	breast:	n/a	chr15:37511615-37511626
19	CEBPB	chr15:37509776-37510086	A549	lung:	n/a	chr15:37509961-37509972
20	CEBPB	chr15:37509718-37510152	Hela-S3	cervix:	n/a	chr15:37509961-37509972
21	CEBPB	chr15:37509800-37510023	K562	blood:	n/a	chr15:37509961-37509972
22	CEBPB	chr15:37509689-37510166	HCT-116	colon:	n/a	chr15:37509961-37509972
23	CEBPB	chr15:37509740-37510157	HepG2	liver:	n/a	chr15:37509961-37509972
24	CEBPB	chr15:37509847-37510064	K562	blood:	n/a	chr15:37509961-37509972
25	CEBPB	chr15:37511419-37511539	HepG2	liver:	n/a	n/a
26	CEBPB	chr15:37509657-37510173	HCT-116	colon:	n/a	chr15:37509961-37509972
27	CEBPD	chr15:37513600-37513945	K562	blood:	n/a	n/a
28	CTCF	chr15:37496997-37497222	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:37497000-37497150	MCF-7	breast:	n/a	n/a
30	CTCF	chr15:37497000-37497150	AG04449	skin:	n/a	n/a
31	CTCF	chr15:37511400-37511550	GM12864	blood:	n/a	chr15:37511481-37511489
32	CTCF	chr15:37497080-37497230	Caco-2	colon:	n/a	n/a
33	CTCF	chr15:37497016-37497178	K562	blood:	n/a	n/a
34	CTCF	chr15:37496860-37497010	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr15:37497127-37497158	Lung_OC	lung:	n/a	n/a
36	CTCF	chr15:37497098-37497154	Gliobla	brain:	n/a	n/a
37	CTCF	chr15:37511440-37511590	Caco-2	colon:	n/a	chr15:37511481-37511489
38	CTCF	chr15:37511380-37511530	HPAF	blood vessel:	n/a	chr15:37511481-37511489
39	CTCF	chr15:37496979-37497121	IMR90	lung:	n/a	n/a
40	CTCF	chr15:37497055-37497149	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr15:37497060-37497210	NHEK	skin:	n/a	n/a
42	CTCF	chr15:37497022-37497168	HepG2	liver:	n/a	n/a
43	CTCF	chr15:37511440-37511590	HEK293	kidney:	n/a	chr15:37511481-37511489
44	CTCF	chr15:37497060-37497210	HFF	foreskin:	n/a	n/a
45	CTCF	chr15:37511400-37511550	Hela-S3	cervix:	n/a	chr15:37511481-37511489
46	CTCF	chr15:37497080-37497230	HVMF	connective:	n/a	n/a
47	CTCF	chr15:37511420-37511570	WERI-Rb-1	eye:	n/a	chr15:37511481-37511489
48	CTCF	chr15:37511440-37511590	HCT-116	colon:	n/a	chr15:37511481-37511489
49	CTCF	chr15:37496920-37497070	AG04450	lung:	n/a	n/a
50	CTCF	chr15:37496917-37497232	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:37538021..37540381-chr15:37540946..37542671,2	K562	blood:
2	chr15:37517876..37520737-chr15:37522317..37524956,2	K562	blood:
3	chr15:37510985..37511783-chr2:99259575..99260376,2	K562	blood:
4	chr15:37513868..37515540-chr15:37583347..37585554,2	MCF-7	breast:
5	chr15:37517876..37520737-chr15:37522317..37524956,2	K562	blood:
6	chr15:37517611..37519496-chr15:37532053..37533587,2	K562	blood:
7	chr15:37517611..37519496-chr15:37532053..37533587,2	K562	blood:
8	chr15:37538021..37540381-chr15:37540946..37542671,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf41-12	chr15:37468128-37468400	l_1138_chr15:37463333-37472322_testes
2	lnc-C15orf41-12	chr15:37472097-37472322	l_1138_chr15:37463333-37472322_testes
3	lnc-C15orf41-13	chr15:37546080-37547153	NONHSAT041689
4	lnc-C15orf41-12	chr15:37463334-37463619	l_1138_chr15:37463333-37472322_testes

Variant related genes	Relation type
ENSG00000270304	TF binding region

Extended variants
information (count: 1333 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1333 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2203929	chr15:37455975-37455976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548458283	chr15:37455980-37455981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567074727	chr15:37455998-37455999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57881545	chr15:37456066-37456067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182011330	chr15:37456084-37456085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551887895	chr15:37456114-37456115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531058019	chr15:37456122-37456123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35067027	chr15:37456163-37456164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570103480	chr15:37456187-37456188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537495024	chr15:37456188-37456189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186670350	chr15:37457475-37457476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549879156	chr15:37457480-37457481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191501807	chr15:37457487-37457488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528926466	chr15:37457528-37457529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138099436	chr15:37457586-37457587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182537235	chr15:37457587-37457588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539731744	chr15:37457589-37457590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551632403	chr15:37457623-37457624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569839769	chr15:37457630-37457631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537970804	chr15:37457653-37457654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554624635	chr15:37457684-37457685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556580617	chr15:37457724-37457725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574744552	chr15:37457725-37457726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535890055	chr15:37457741-37457742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553739205	chr15:37457749-37457750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575974760	chr15:37457765-37457766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572438806	chr15:37457771-37457772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34688332	chr15:37457784-37457785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571284325	chr15:37457829-37457830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546063966	chr15:37457887-37457888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369061766	chr15:37457888-37457889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537033466	chr15:37457890-37457891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111866831	chr15:37457916-37457917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372480956	chr15:37457940-37457941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115124668	chr15:37458001-37458002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543159737	chr15:37458024-37458025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192801508	chr15:37458074-37458075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185252193	chr15:37458092-37458093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190129521	chr15:37458096-37458097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559370748	chr15:37458110-37458111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533289086	chr15:37458119-37458120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61022183	chr15:37458125-37458126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377545239	chr15:37458161-37458162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80195087	chr15:37458174-37458175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548902224	chr15:37458176-37458177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs118173460	chr15:37458195-37458196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535560844	chr15:37458209-37458210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576868435	chr15:37458256-37458257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34842552	chr15:37458257-37458258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553775879	chr15:37458282-37458283	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:37455800-37456200	Enhancers	Gastric	stomach
2	chr15:37457400-37459200	Enhancers	Fetal Heart	heart
3	chr15:37469600-37470400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr15:37472000-37473000	Weak transcription	Stomach Mucosa	stomach
5	chr15:37473200-37473400	Enhancers	Stomach Mucosa	stomach
6	chr15:37473200-37474200	Enhancers	Liver	Liver
7	chr15:37489600-37490000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:37490800-37492600	Enhancers	Brain Germinal Matrix	brain
9	chr15:37495000-37496600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:37495200-37495600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:37496200-37497600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr15:37497000-37497200	Enhancers	Liver	Liver
13	chr15:37497200-37497600	Active TSS	Liver	Liver
14	chr15:37497200-37497800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:37497200-37497800	Active TSS	Ovary	ovary
16	chr15:37497600-37498000	Flanking Active TSS	Liver	Liver
17	chr15:37497600-37501200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:37498000-37499000	Enhancers	Liver	Liver
19	chr15:37498800-37499600	Enhancers	HepG2	liver
20	chr15:37499000-37500600	Flanking Active TSS	Liver	Liver
21	chr15:37500600-37500800	Enhancers	Liver	Liver
22	chr15:37500800-37501400	Flanking Active TSS	Liver	Liver
23	chr15:37501200-37501600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr15:37501400-37501800	Enhancers	Liver	Liver
25	chr15:37501600-37503400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:37503400-37503600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr15:37503600-37504000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:37504000-37504200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr15:37504200-37509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:37509200-37512800	Enhancers	Liver	Liver
31	chr15:37509200-37512800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr15:37509600-37512200	Enhancers	HepG2	liver
33	chr15:37511000-37511600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:37511600-37513600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:37512600-37513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:37512600-37513200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:37512600-37513800	Enhancers	Fetal Brain Female	brain
38	chr15:37512800-37513200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr15:37512800-37513600	Enhancers	NHEK	skin
40	chr15:37513200-37513600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:37513200-37513600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:37513200-37514600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:37513600-37514000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:37513600-37514000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:37513600-37514000	Enhancers	Fetal Kidney	kidney
46	chr15:37513600-37514800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:37514000-37514200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:37514000-37514200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:37514200-37514400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:37514600-37515400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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