Variant report

Variant	nsv1044991
Chromosome Location	chr13:87461244-87713936
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	chr13:87522825-87522873	K562	blood:	n/a	n/a
2	ARID3A	chr13:87638730-87639049	HepG2	liver:	n/a	n/a
3	ATF1	chr13:87535053-87535541	K562	blood:	n/a	n/a
4	ATF1	chr13:87561569-87561897	K562	blood:	n/a	n/a
5	ATF1	chr13:87534480-87534795	K562	blood:	n/a	n/a
6	ATF2	chr13:87534377-87534846	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:87533625-87533952	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:87534270-87534796	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr13:87650294-87650417	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:87599091-87599291	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr13:87533665-87533941	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr13:87597888-87598181	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr13:87535109-87535399	K562	blood:	n/a	n/a
14	CEBPB	chr13:87682896-87683192	HepG2	liver:	n/a	chr13:87683043-87683054
15	CEBPB	chr13:87682904-87683204	Hela-S3	cervix:	n/a	chr13:87683043-87683054
16	CEBPB	chr13:87596748-87597517	IMR90	lung:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
17	CEBPB	chr13:87535059-87535367	K562	blood:	n/a	chr13:87535277-87535288
18	CEBPB	chr13:87575160-87575465	MCF-7	breast:	n/a	n/a
19	CEBPB	chr13:87525573-87525763	HepG2	liver:	n/a	chr13:87525610-87525621
20	CEBPB	chr13:87666359-87666636	A549	lung:	n/a	chr13:87666512-87666523
21	CEBPB	chr13:87593860-87594049	A549	lung:	n/a	n/a
22	CEBPB	chr13:87575260-87575510	MCF-7	breast:	n/a	n/a
23	CEBPB	chr13:87623720-87624000	IMR90	lung:	n/a	chr13:87623853-87623864
24	CEBPB	chr13:87666361-87666662	IMR90	lung:	n/a	chr13:87666512-87666523
25	CEBPB	chr13:87661019-87661251	HepG2	liver:	n/a	chr13:87661130-87661141
26	CEBPB	chr13:87558087-87558399	IMR90	lung:	n/a	chr13:87558216-87558229 chr13:87558218-87558229 chr13:87558218-87558227 chr13:87558218-87558227 chr13:87558218-87558227 chr13:87558218-87558227
27	CEBPB	chr13:87682905-87683111	ECC-1	luminal epithelium:	n/a	chr13:87683043-87683054
28	CEBPB	chr13:87534327-87534679	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr13:87469814-87470097	HepG2	liver:	n/a	chr13:87469948-87469959
30	CEBPB	chr13:87623791-87624024	HepG2	liver:	n/a	chr13:87623853-87623864
31	CEBPB	chr13:87535123-87535452	K562	blood:	n/a	chr13:87535277-87535288
32	CEBPB	chr13:87482236-87482598	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr13:87597731-87598317	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr13:87596795-87597091	A549	lung:	n/a	chr13:87596913-87596922 chr13:87596913-87596922 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87596913-87596922
35	CEBPB	chr13:87599037-87599123	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr13:87641137-87641643	HepG2	liver:	n/a	chr13:87641148-87641161 chr13:87641504-87641515 chr13:87641219-87641232 chr13:87641148-87641161
37	CEBPB	chr13:87666329-87666691	HepG2	liver:	n/a	chr13:87666512-87666523
38	CEBPB	chr13:87546354-87546670	Hela-S3	cervix:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
39	CEBPB	chr13:87682889-87683192	IMR90	lung:	n/a	chr13:87683043-87683054
40	CEBPB	chr13:87475251-87475602	IMR90	lung:	n/a	chr13:87475414-87475425
41	CEBPB	chr13:87509486-87509874	IMR90	lung:	n/a	n/a
42	CEBPB	chr13:87623746-87623959	A549	lung:	n/a	chr13:87623853-87623864
43	CEBPB	chr13:87475265-87475574	HepG2	liver:	n/a	chr13:87475414-87475425
44	CEBPB	chr13:87682942-87683171	A549	lung:	n/a	chr13:87683043-87683054
45	CEBPB	chr13:87641387-87641668	H1-hESC	embryonic stem cell:	n/a	chr13:87641504-87641515
46	CEBPB	chr13:87546429-87546598	H1-hESC	embryonic stem cell:	n/a	chr13:87546483-87546494 chr13:87546515-87546526
47	CEBPB	chr13:87596743-87597505	HepG2	liver:	n/a	chr13:87597373-87597386 chr13:87596913-87596922 chr13:87596913-87596922 chr13:87597375-87597386 chr13:87596908-87596925 chr13:87596913-87596922 chr13:87596911-87596922 chr13:87597375-87597386 chr13:87597373-87597386 chr13:87596913-87596922
48	CEBPB	chr13:87528428-87528706	HepG2	liver:	n/a	n/a
49	CEBPB	chr13:87533644-87534006	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr13:87464946-87465050	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:87465454..87468131-chr13:87475693..87478573,2	MCF-7	breast:
2	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:
3	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:
4	chr13:87522311..87523294-chr13:87926162..87927045,5	MCF-7	breast:
5	chr13:87465454..87468131-chr13:87475693..87478573,2	MCF-7	breast:
6	chr13:87530439..87532752-chr13:87534404..87536619,2	K562	blood:
7	chr13:87685458..87688112-chr13:87691152..87694423,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-6	chr13:87588831-87589271	ENSG00000233528.3
2	lnc-SLITRK5-6	chr13:87588831-87589062	XLOC_010461
3	lnc-SLITRK5-6	chr13:87564173-87564236	ENSG00000233528.3
4	lnc-SLITRK5-6	chr13:87564173-87564236	XLOC_010461

Variant related genes	Relation type
LINC00430	TF binding region

Extended variants
information (count: 5283 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:5283 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111434200	chr13:87461246-87461247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565071699	chr13:87461257-87461258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532431690	chr13:87461277-87461278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543890867	chr13:87461296-87461297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562487252	chr13:87461304-87461305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529838458	chr13:87461305-87461306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548262205	chr13:87461400-87461401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142758205	chr13:87461433-87461434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9515970	chr13:87461437-87461438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115171366	chr13:87461450-87461451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13378961	chr13:87461458-87461459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571087317	chr13:87461459-87461460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540641774	chr13:87461525-87461526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538516666	chr13:87461560-87461561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148718312	chr13:87461562-87461563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374905364	chr13:87461633-87461634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2992713	chr13:87461696-87461697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182879020	chr13:87461715-87461716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371714050	chr13:87461718-87461719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572197859	chr13:87461728-87461729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540081005	chr13:87461752-87461753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544753715	chr13:87461827-87461828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558693950	chr13:87461874-87461875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577096046	chr13:87461896-87461897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2992714	chr13:87461949-87461950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368032726	chr13:87461963-87461964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187518525	chr13:87461982-87461983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541839871	chr13:87461988-87461989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191762402	chr13:87462146-87462147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182826254	chr13:87462149-87462150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552531653	chr13:87462167-87462168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570991471	chr13:87462207-87462208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531932198	chr13:87462212-87462213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550402456	chr13:87462215-87462216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568122717	chr13:87462220-87462221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543553030	chr13:87462322-87462323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9523414	chr13:87462380-87462381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575274535	chr13:87462389-87462390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544147332	chr13:87462600-87462601	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535496504	chr13:87462614-87462615	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547381113	chr13:87462628-87462629	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565861146	chr13:87462668-87462669	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186742590	chr13:87462678-87462679	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558487502	chr13:87462693-87462694	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142298463	chr13:87462719-87462720	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192442535	chr13:87462735-87462736	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs556540828	chr13:87462822-87462823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74101949	chr13:87462825-87462826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs79055447	chr13:87462826-87462827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114906776	chr13:87462864-87462865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87456600-87478400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:87462200-87463400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:87462200-87463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:87462400-87462800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:87462400-87463200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:87462800-87463000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:87463000-87463200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:87465400-87465800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:87465600-87466000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:87465600-87466000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:87474600-87474800	Enhancers	Liver	Liver
12	chr13:87475000-87477200	Weak transcription	Liver	Liver
13	chr13:87477200-87478400	Enhancers	Liver	Liver
14	chr13:87478400-87478600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:87478600-87480000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:87479000-87479600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr13:87479400-87479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:87479400-87479800	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:87482000-87482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:87482200-87482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:87482200-87482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:87482200-87482800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:87482400-87482600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:87482400-87483800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr13:87488400-87490400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:87488600-87489000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:87489000-87492400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:87490400-87490600	Enhancers	Gastric	stomach
29	chr13:87490600-87491000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:87490600-87491000	Flanking Active TSS	Gastric	stomach
31	chr13:87490600-87491800	Enhancers	Pancreas	Pancrea
32	chr13:87490600-87492000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:87491000-87491400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr13:87491400-87498400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr13:87492400-87492800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:87498200-87499200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:87498200-87499200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:87498200-87499800	Enhancers	HMEC	breast
39	chr13:87498400-87499000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:87508600-87509000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:87508800-87509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:87514200-87514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:87515800-87517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:87516200-87517000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:87520400-87520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:87520600-87521200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:87521200-87523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:87521400-87523200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:87521800-87522800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:87521800-87523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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