Variant report

Variant	nsv900868
Chromosome Location	chr13:90588061-90642785
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	chr13:90625281-90625544	K562	blood:	n/a	n/a
2	ATF1	chr13:90628499-90628699	K562	blood:	n/a	n/a
3	ATF1	chr13:90631035-90631225	K562	blood:	n/a	n/a
4	ATF1	chr13:90620724-90621483	K562	blood:	n/a	n/a
5	ATF1	chr13:90607751-90608272	K562	blood:	n/a	n/a
6	ATF1	chr13:90605873-90606073	K562	blood:	n/a	n/a
7	ATF1	chr13:90639555-90640158	K562	blood:	n/a	n/a
8	ATF1	chr13:90605296-90605645	K562	blood:	n/a	n/a
9	ATF1	chr13:90621919-90622106	K562	blood:	n/a	n/a
10	BACH1	chr13:90619875-90620030	K562	blood:	n/a	n/a
11	BACH1	chr13:90599565-90599780	K562	blood:	n/a	n/a
12	BHLHE40	chr13:90636204-90636250	K562	blood:	n/a	n/a
13	BRCA1	chr13:90640636-90640643	Hela-S3	cervix:	n/a	n/a
14	CCNT2	chr13:90626221-90626421	K562	blood:	n/a	n/a
15	CCNT2	chr13:90609192-90609256	K562	blood:	n/a	n/a
16	CCNT2	chr13:90632848-90633115	K562	blood:	n/a	n/a
17	CCNT2	chr13:90624243-90624713	K562	blood:	n/a	n/a
18	CCNT2	chr13:90615024-90615322	K562	blood:	n/a	n/a
19	CCNT2	chr13:90639982-90640308	K562	blood:	n/a	n/a
20	CCNT2	chr13:90604614-90604863	K562	blood:	n/a	n/a
21	CCNT2	chr13:90602790-90602990	K562	blood:	n/a	n/a
22	CEBPB	chr13:90642450-90642744	K562	blood:	n/a	chr13:90642536-90642549 chr13:90642536-90642549 chr13:90642536-90642547 chr13:90642536-90642547
23	CEBPB	chr13:90616657-90616844	K562	blood:	n/a	n/a
24	CEBPB	chr13:90587961-90588226	HepG2	liver:	n/a	n/a
25	CEBPB	chr13:90634580-90634784	A549	lung:	n/a	chr13:90634616-90634629
26	CEBPB	chr13:90634448-90634922	HepG2	liver:	n/a	chr13:90634527-90634540 chr13:90634527-90634540 chr13:90634778-90634789 chr13:90634616-90634629 chr13:90634527-90634538 chr13:90634527-90634538
27	CEBPB	chr13:90593875-90594131	HepG2	liver:	n/a	chr13:90594016-90594025 chr13:90594016-90594027 chr13:90594014-90594025
28	CEBPB	chr13:90587963-90588322	K562	blood:	n/a	n/a
29	CEBPB	chr13:90634501-90635097	K562	blood:	n/a	chr13:90634527-90634540 chr13:90634527-90634540 chr13:90634778-90634789 chr13:90634616-90634629 chr13:90634527-90634538 chr13:90634527-90634538
30	CEBPB	chr13:90634423-90635373	Hela-S3	cervix:	n/a	chr13:90634527-90634540 chr13:90634527-90634540 chr13:90634778-90634789 chr13:90634616-90634629 chr13:90634527-90634538 chr13:90634527-90634538
31	CEBPB	chr13:90623546-90623783	K562	blood:	n/a	n/a
32	CEBPB	chr13:90609407-90609461	K562	blood:	n/a	n/a
33	CTCF	chr13:90588327-90588362	K562	blood:	n/a	n/a
34	CTCF	chr13:90603700-90603850	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr13:90603637-90603871	GM12878	blood:	n/a	n/a
36	CTCF	chr13:90603760-90603910	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr13:90588660-90588810	HMEC	breast:	n/a	n/a
38	CTCF	chr13:90603740-90603890	BE2_C	brain:	n/a	n/a
39	CTCF	chr13:90603766-90603836	Gliobla	brain:	n/a	n/a
40	CTCF	chr13:90603760-90603910	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr13:90640197-90640202	GM10248	blood:	n/a	n/a
42	CUX1	chr13:90609385-90609401	K562	blood:	n/a	n/a
43	CUX1	chr13:90631215-90631236	K562	blood:	n/a	n/a
44	CUX1	chr13:90601138-90601282	K562	blood:	n/a	n/a
45	CUX1	chr13:90633213-90633229	GM12878	blood:	n/a	n/a
46	CUX1	chr13:90625380-90625468	K562	blood:	n/a	n/a
47	E2F4	chr13:90589907-90590095	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr13:90625730-90625930	MCF10A-Er-Src	breast:	n/a	n/a
49	EBF1	chr13:90633184-90633405	GM12878	blood:	n/a	n/a
50	ELK1	chr13:90618746-90619113	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:90615424..90617476-chr13:90620139..90623091,2	K562	blood:
2	chr13:90593285..90595272-chr13:90597224..90598967,2	K562	blood:
3	chr13:90596974..90598831-chr13:90602798..90605070,2	K562	blood:
4	chr13:90628839..90630474-chr13:90638003..90640039,2	K562	blood:
5	chr13:90615424..90617476-chr13:90620139..90623091,2	K562	blood:
6	chr13:90590871..90593494-chr13:90596073..90598011,2	K562	blood:
7	chr13:90602501..90604357-chr13:90604768..90606824,2	K562	blood:
8	chr13:90590871..90593494-chr13:90596073..90598011,2	K562	blood:
9	chr13:90596974..90598831-chr13:90602798..90605070,2	K562	blood:
10	chr13:90602501..90604357-chr13:90604768..90606824,2	K562	blood:
11	chr13:90593285..90595272-chr13:90597224..90598967,2	K562	blood:
12	chr13:90573050..90575053-chr13:90601953..90604544,2	K562	blood:
13	chr13:90613653..90615299-chr13:90617771..90620491,2	K562	blood:
14	chr13:90613653..90615299-chr13:90617771..90620491,2	K562	blood:
15	chr13:90628839..90630474-chr13:90638003..90640039,2	K562	blood:

Variant related genes	Relation type
PEX12P1	TF binding region

Extended variants
information (count: 853 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7989009	chr13:90588061-90588062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs137876775	chr13:90588088-90588089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544529518	chr13:90588121-90588122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113684636	chr13:90588173-90588174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370516039	chr13:90588177-90588178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558595837	chr13:90588191-90588192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547877906	chr13:90588219-90588220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566187876	chr13:90588224-90588225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527397529	chr13:90588247-90588248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189624206	chr13:90588275-90588276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143919927	chr13:90588284-90588285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538957255	chr13:90588294-90588295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575457497	chr13:90588342-90588343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557684961	chr13:90588455-90588456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180846414	chr13:90588497-90588498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566457102	chr13:90588506-90588507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4145190	chr13:90588524-90588525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555019993	chr13:90588593-90588594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372112194	chr13:90588595-90588596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375710673	chr13:90588606-90588607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs16943638	chr13:90588617-90588618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534195075	chr13:90588621-90588622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554254603	chr13:90588623-90588624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577008264	chr13:90588634-90588635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577145931	chr13:90588673-90588674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184894257	chr13:90588721-90588722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539956144	chr13:90588736-90588737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556346307	chr13:90588759-90588760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75322164	chr13:90588788-90588789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574651306	chr13:90588845-90588846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541771979	chr13:90588916-90588917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541969791	chr13:90588973-90588974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190926441	chr13:90588980-90588981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562051299	chr13:90588981-90588982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79959678	chr13:90588996-90588997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398077473	chr13:90588999-90589000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114165773	chr13:90589027-90589028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551896286	chr13:90589054-90589055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565136389	chr13:90589128-90589129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532694430	chr13:90589187-90589188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16943643	chr13:90589188-90589189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181773443	chr13:90589265-90589266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536566299	chr13:90589280-90589281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560124526	chr13:90589301-90589302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185945129	chr13:90589303-90589304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566905962	chr13:90589313-90589314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534277619	chr13:90589421-90589422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191491020	chr13:90589435-90589436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577268061	chr13:90589436-90589437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538003106	chr13:90589449-90589450	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90588000-90589600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:90588600-90589400	Enhancers	HMEC	breast
3	chr13:90591200-90591400	Enhancers	HMEC	breast
4	chr13:90592600-90598800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:90619000-90619200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:90619200-90619400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr13:90619200-90619400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr13:90619800-90620200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:90620000-90620800	Enhancers	Primary hematopoietic stem cells	blood
10	chr13:90620200-90621000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:90620200-90622200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:90620400-90620800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:90620400-90621600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr13:90621200-90621400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr13:90621800-90623000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:90622200-90623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:90622400-90622800	Enhancers	NH-A	brain
18	chr13:90629000-90629600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:90629400-90629600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:90629600-90630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:90629600-90631000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:90630600-90631600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:90630600-90632600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:90631000-90631400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr13:90632600-90633000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:90633000-90633200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:90633000-90633200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr13:90633200-90633400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:90633200-90633400	Enhancers	Hela-S3	cervix
30	chr13:90633200-90633600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr13:90633400-90633600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:90633400-90633600	Enhancers	Adipose Nuclei	Adipose
33	chr13:90633600-90634400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr13:90633600-90634600	Weak transcription	Hela-S3	cervix
35	chr13:90634000-90634400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr13:90634400-90634600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr13:90634400-90635200	Active TSS	Adipose Nuclei	Adipose
38	chr13:90634400-90635400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:90634400-90635400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr13:90634600-90635000	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr13:90634600-90635200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:90634600-90635200	Enhancers	Hela-S3	cervix
43	chr13:90635000-90635400	Enhancers	Colon Smooth Muscle	Colon
44	chr13:90635000-90635600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr13:90635200-90635400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:90635200-90635400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr13:90635400-90635600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:90635400-90635600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:90635400-90635600	Enhancers	Adipose Nuclei	Adipose
50	chr13:90635400-90636400	Enhancers	Primary monocytes fromperipheralblood	blood

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