Variant report

Variant	nsv1649
Chromosome Location	chr15:87584577-87609998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:87606037-87606197	A549	lung:	n/a	n/a
2	CEBPB	chr15:87588786-87589348	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr15:87588698-87589472	MCF-7	breast:	n/a	n/a
4	CEBPB	chr15:87588734-87589340	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:87585920-87586070	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr15:87585940-87586090	BE2_C	brain:	n/a	n/a
7	CTCF	chr15:87585920-87586070	HEK293	kidney:	n/a	n/a
8	CTCF	chr15:87585940-87586090	HMEC	breast:	n/a	n/a
9	CTCF	chr15:87586018-87586087	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr15:87599665-87599704	LNCaP	prostate:	n/a	n/a
11	CTCF	chr15:87585980-87586130	AG04450	lung:	n/a	n/a
12	CTCF	chr15:87585983-87586147	NHEK	skin:	n/a	n/a
13	CTCF	chr15:87585900-87586050	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr15:87585909-87586131	MCF-7	breast:	n/a	n/a
15	CTCF	chr15:87585900-87586050	SAEC	small airway:	n/a	n/a
16	CTCF	chr15:87585920-87586070	AG04450	lung:	n/a	n/a
17	CTCF	chr15:87591900-87592050	GM12869	blood:	n/a	n/a
18	CTCF	chr15:87585920-87586070	NHEK	skin:	n/a	n/a
19	CTCF	chr15:87586000-87586150	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr15:87586000-87586150	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr15:87586054-87586082	MCF-7	breast:	n/a	n/a
22	CTCF	chr15:87586000-87586150	HMEC	breast:	n/a	n/a
23	CTCF	chr15:87585997-87586087	Fibrobl	skin:	n/a	n/a
24	CTCF	chr15:87585940-87586090	MCF-7	breast:	n/a	n/a
25	CTCF	chr15:87585700-87585850	NHEK	skin:	n/a	n/a
26	CTCF	chr15:87586000-87586150	AG10803	skin:	n/a	n/a
27	CTCF	chr15:87585940-87586090	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr15:87586000-87586150	HCFaa	heart:	n/a	n/a
29	CTCF	chr15:87585900-87586050	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr15:87585951-87586193	MCF-7	breast:	n/a	n/a
31	CTCF	chr15:87586000-87586150	AG04449	skin:	n/a	n/a
32	CTCF	chr15:87586000-87586150	AG09309	skin:	n/a	n/a
33	CTCF	chr15:87585950-87586164	MCF-7	breast:	n/a	n/a
34	CTCF	chr15:87585920-87586070	AG04449	skin:	n/a	n/a
35	CTCF	chr15:87585998-87586096	LNCaP	prostate:	n/a	n/a
36	CTCF	chr15:87586000-87586150	NHEK	skin:	n/a	n/a
37	CTCF	chr15:87585940-87586090	HAc	cerebellar:	n/a	n/a
38	CTCF	chr15:87586000-87586150	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr15:87585940-87586090	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr15:87585920-87586070	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr15:87586040-87586190	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr15:87585940-87586090	HFF	foreskin:	n/a	n/a
43	CTCF	chr15:87603800-87603950	MCF-7	breast:	n/a	n/a
44	EP300	chr15:87589098-87589341	Hela-S3	cervix:	n/a	n/a
45	EP300	chr15:87588748-87589484	MCF-7	breast:	n/a	n/a
46	EP300	chr15:87588550-87589614	MCF-7	breast:	n/a	n/a
47	FOS	chr15:87589062-87589406	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr15:87589090-87589387	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr15:87589071-87589414	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr15:87589151-87589357	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:87588638..87589626-chr15:87664512..87665513,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGBL1-1	chr15:87585285-87585428	ENSG00000259761.1
2	lnc-AGBL1-1	chr15:87590028-87590392	ENSG00000259761.1

No data

Variant related genes	Relation type
ENSG00000259761	TF binding region

Extended variants
information (count: 274 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370567749	chr15:87584846-87584847	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs140905781	chr15:87584848-87584849	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538049603	chr15:87584865-87584866	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs550655936	chr15:87584902-87584903	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113550706	chr15:87584911-87584912	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536257306	chr15:87584930-87584931	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554236691	chr15:87584946-87584947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs572852530	chr15:87584977-87584978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534114062	chr15:87584991-87584992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187778580	chr15:87584995-87584996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577155395	chr15:87585011-87585012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112989295	chr15:87585017-87585018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56275421	chr15:87585018-87585019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574810991	chr15:87585020-87585021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559216731	chr15:87585067-87585068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77546590	chr15:87585087-87585088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577565535	chr15:87585121-87585122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542287893	chr15:87585138-87585139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538544893	chr15:87585148-87585149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138529371	chr15:87585202-87585203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141501282	chr15:87585252-87585253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145365276	chr15:87585272-87585273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193247172	chr15:87585274-87585275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184830209	chr15:87585286-87585287	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570581178	chr15:87585323-87585324	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs58153278	chr15:87585330-87585331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs572224597	chr15:87585346-87585347	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs28806816	chr15:87585363-87585364	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187288102	chr15:87585377-87585378	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548250701	chr15:87585378-87585379	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs552752932	chr15:87587406-87587407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549460401	chr15:87587408-87587409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112254731	chr15:87587423-87587424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2099377	chr15:87587441-87587442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552297145	chr15:87587447-87587448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528512902	chr15:87587450-87587451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570589018	chr15:87587453-87587454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546989363	chr15:87587470-87587471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144527404	chr15:87587490-87587491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192527986	chr15:87587519-87587520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539355484	chr15:87587569-87587570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372875106	chr15:87587649-87587650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542123395	chr15:87587650-87587651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149606711	chr15:87587668-87587669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569479189	chr15:87587684-87587685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112198116	chr15:87587697-87587698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182716687	chr15:87587716-87587717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4619365	chr15:87587721-87587722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139710895	chr15:87587744-87587745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540645861	chr15:87587747-87587748	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87584800-87585400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:87587400-87587800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr15:87588000-87588400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr15:87588200-87588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:87588600-87589200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:87588800-87589200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr15:87588800-87589200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:87588800-87589200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:87588800-87589400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:87588800-87589400	Enhancers	HMEC	breast
11	chr15:87588800-87589600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:87589200-87590400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:87589200-87591400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:87590600-87590800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:87591400-87592000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:87608800-87609400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:87609400-87609800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:87609800-87633000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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