Variant report

Variant	nsv562632
Chromosome Location	chr13:88532287-88622740
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	BRCA1	chr13:88534076-88534118	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr13:88604557-88604772	A549	lung:	n/a	chr13:88604624-88604637 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604624-88604637 chr13:88604653-88604664 chr13:88604624-88604635 chr13:88604652-88604663 chr13:88604625-88604636
3	CEBPB	chr13:88545245-88545280	A549	lung:	n/a	n/a
4	CEBPB	chr13:88604474-88604793	IMR90	lung:	n/a	chr13:88604624-88604637 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604624-88604637 chr13:88604653-88604664 chr13:88604624-88604635 chr13:88604652-88604663 chr13:88604625-88604636
5	CEBPB	chr13:88604465-88604823	HepG2	liver:	n/a	chr13:88604624-88604637 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604626-88604635 chr13:88604624-88604637 chr13:88604653-88604664 chr13:88604624-88604635 chr13:88604652-88604663 chr13:88604625-88604636
6	CEBPB	chr13:88546439-88546763	ECC-1	luminal epithelium:	n/a	chr13:88546595-88546608 chr13:88546596-88546607 chr13:88546595-88546606 chr13:88546594-88546611 chr13:88546595-88546606
7	CEBPB	chr13:88594486-88594808	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr13:88546523-88546683	Hela-S3	cervix:	n/a	chr13:88546595-88546608 chr13:88546596-88546607 chr13:88546595-88546606 chr13:88546594-88546611 chr13:88546595-88546606
9	CEBPB	chr13:88546439-88546760	HepG2	liver:	n/a	chr13:88546595-88546608 chr13:88546596-88546607 chr13:88546595-88546606 chr13:88546594-88546611 chr13:88546595-88546606
10	CEBPB	chr13:88546429-88546803	ECC-1	luminal epithelium:	n/a	chr13:88546595-88546608 chr13:88546596-88546607 chr13:88546595-88546606 chr13:88546594-88546611 chr13:88546595-88546606
11	CEBPB	chr13:88566494-88566704	Hela-S3	cervix:	n/a	chr13:88566557-88566566 chr13:88566557-88566568
12	CEBPB	chr13:88617569-88617737	A549	lung:	n/a	chr13:88617698-88617711 chr13:88617695-88617712 chr13:88617698-88617711
13	CEBPB	chr13:88545138-88545340	HepG2	liver:	n/a	chr13:88545217-88545228
14	CEBPB	chr13:88607378-88607500	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr13:88550765-88550859	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr13:88532358-88532403	GM10266	blood:	n/a	n/a
17	CTCF	chr13:88578880-88579030	HRE	kidney:	n/a	n/a
18	CTCF	chr13:88564760-88564910	HepG2	liver:	n/a	n/a
19	CTCF	chr13:88543218-88543245	ProgFib	skin:	n/a	n/a
20	CTCF	chr13:88564880-88565030	GM12866	blood:	n/a	n/a
21	CTCF	chr13:88564880-88565030	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr13:88543113-88543130	MCF-7	breast:	n/a	n/a
23	E2F4	chr13:88581166-88581366	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr13:88594520-88594720	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr13:88593530-88593751	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr13:88585670-88585890	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr13:88606334-88606812	SK-N-SH_RA	brain:	n/a	chr13:88606690-88606699
28	EP300	chr13:88606420-88606729	SK-N-SH_RA	brain:	n/a	chr13:88606690-88606699
29	EP300	chr13:88606256-88606958	SK-N-SH	brain:	n/a	chr13:88606690-88606699
30	FOS	chr13:88537208-88537454	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr13:88606647-88606662	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr13:88606625-88606790	MCF10A-Er-Src	breast:	n/a	chr13:88606689-88606699 chr13:88606690-88606697 chr13:88606690-88606699
33	FOS	chr13:88537231-88537504	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr13:88594485-88594827	MCF10A-Er-Src	breast:	n/a	chr13:88594660-88594668 chr13:88594658-88594670
35	FOS	chr13:88537182-88537505	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr13:88594493-88594830	MCF10A-Er-Src	breast:	n/a	chr13:88594660-88594668 chr13:88594658-88594670
37	FOS	chr13:88607722-88607882	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr13:88606647-88606835	MCF10A-Er-Src	breast:	n/a	chr13:88606689-88606699 chr13:88606690-88606697 chr13:88606690-88606699
39	FOS	chr13:88614676-88614776	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr13:88537241-88537525	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr13:88594502-88594830	MCF10A-Er-Src	breast:	n/a	chr13:88594660-88594668 chr13:88594658-88594670
42	FOS	chr13:88593556-88593821	MCF10A-Er-Src	breast:	n/a	chr13:88593744-88593752 chr13:88593742-88593754
43	FOS	chr13:88593653-88593876	MCF10A-Er-Src	breast:	n/a	chr13:88593744-88593752 chr13:88593742-88593754
44	FOSL2	chr13:88606450-88606836	SK-N-SH	brain:	n/a	chr13:88606689-88606699 chr13:88606690-88606697 chr13:88606690-88606699
45	FOSL2	chr13:88537207-88537518	SK-N-SH	brain:	n/a	n/a
46	GATA2	chr13:88575977-88576421	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr13:88606231-88606901	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr13:88576116-88576341	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr13:88622267-88622447	SH-SY5Y	brain:	n/a	chr13:88622389-88622396 chr13:88622389-88622398
50	GATA3	chr13:88606237-88607033	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95255999..95256872-chr13:88573166..88573666,2	Hela-S3	cervix:

Variant related genes	Relation type
TET1P1	TF binding region
ENSG00000138180	chromatin interactions

Extended variants
information (count: 975 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189374212	chr13:88536802-88536803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34920596	chr13:88536810-88536811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552267825	chr13:88536836-88536837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115740477	chr13:88536867-88536868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537876851	chr13:88536935-88536936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556135928	chr13:88536949-88536950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568006621	chr13:88536972-88536973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193017550	chr13:88536976-88536977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536161825	chr13:88536982-88536983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528906514	chr13:88536995-88536996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572973103	chr13:88536997-88536998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185682902	chr13:88537011-88537012	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs558722299	chr13:88537026-88537027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190156615	chr13:88537073-88537074	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544274334	chr13:88537122-88537123	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181782032	chr13:88537141-88537142	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529651677	chr13:88537150-88537151	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542163718	chr13:88537165-88537166	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185822229	chr13:88537211-88537212	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188568249	chr13:88537339-88537340	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150014540	chr13:88537352-88537353	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564287030	chr13:88537388-88537389	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs180931199	chr13:88537448-88537449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549819270	chr13:88537461-88537462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185155297	chr13:88537464-88537465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192311134	chr13:88537499-88537500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141478805	chr13:88537503-88537504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566186264	chr13:88537512-88537513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4594109	chr13:88537523-88537524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147674468	chr13:88537557-88537558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368273706	chr13:88537580-88537581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571021909	chr13:88537588-88537589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534007461	chr13:88537612-88537613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573669405	chr13:88537629-88537630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558785435	chr13:88537637-88537638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372093060	chr13:88537639-88537640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537949574	chr13:88537676-88537677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556248840	chr13:88537699-88537700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376453598	chr13:88537738-88537739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76320369	chr13:88537821-88537822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574371812	chr13:88537836-88537837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576466870	chr13:88537858-88537859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541792348	chr13:88537868-88537869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368570533	chr13:88537880-88537881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140901648	chr13:88537883-88537884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9518766	chr13:88537889-88537890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144863471	chr13:88537931-88537932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75373420	chr13:88537969-88537970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184080922	chr13:88538002-88538003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549882459	chr13:88538007-88538008	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
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
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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88536800-88537800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:88537000-88537200	Active TSS	Brain Hippocampus Middle	brain
3	chr13:88537000-88537400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:88537000-88537400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:88537000-88537400	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:88537000-88537400	Enhancers	Fetal Heart	heart
7	chr13:88537000-88537600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr13:88537000-88538200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:88537200-88537400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr13:88537400-88538000	Enhancers	Brain Hippocampus Middle	brain
11	chr13:88538200-88539800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:88539600-88540200	Enhancers	Fetal Stomach	stomach
13	chr13:88539800-88540800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:88540200-88541200	Weak transcription	Fetal Stomach	stomach
15	chr13:88541200-88542000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:88541400-88541600	Enhancers	Fetal Stomach	stomach
17	chr13:88546400-88546800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:88546400-88547000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr13:88553600-88553800	Enhancers	Pancreas	Pancrea
20	chr13:88555000-88556400	Enhancers	Fetal Lung	lung
21	chr13:88555600-88556000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:88555800-88556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:88556200-88556600	Enhancers	Fetal Muscle Leg	muscle
24	chr13:88556200-88556800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:88572200-88573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:88572200-88573800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:88572400-88572600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:88572400-88573600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:88574400-88574800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:88587800-88588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:88593200-88593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:88593400-88593800	Enhancers	Fetal Lung	lung
33	chr13:88593400-88594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:88593600-88595000	Enhancers	Fetal Kidney	kidney
35	chr13:88593800-88594200	Weak transcription	Fetal Lung	lung
36	chr13:88594000-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:88594200-88595200	Enhancers	Fetal Lung	lung
38	chr13:88594400-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:88595000-88596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:88596200-88596400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:88601200-88602600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:88602600-88604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:88604600-88606800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:88606800-88607400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:88607400-88607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:88614400-88614800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:88614800-88617400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:88615600-88617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:88617400-88618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:88619600-88622200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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