Variant report

Variant	nsv900735
Chromosome Location	chr13:86426757-86545903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:86468449-86468546	K562	blood:	n/a	n/a
2	CEBPB	chr13:86432483-86432781	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:86449880-86449925	H1-hESC	embryonic stem cell:	n/a	chr13:86449887-86449898
4	CEBPB	chr13:86449847-86450054	IMR90	lung:	n/a	chr13:86449887-86449898
5	CEBPB	chr13:86448798-86448961	HepG2	liver:	n/a	chr13:86448866-86448877
6	CEBPB	chr13:86432453-86432804	IMR90	lung:	n/a	n/a
7	CEBPB	chr13:86449776-86450036	HepG2	liver:	n/a	chr13:86449887-86449898
8	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
9	CEBPB	chr13:86432530-86432778	A549	lung:	n/a	n/a
10	CEBPB	chr13:86432512-86432732	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr13:86434116-86434308	K562	blood:	n/a	n/a
12	CTCF	chr13:86471200-86471350	HCT-116	colon:	n/a	n/a
13	CTCF	chr13:86471316-86471474	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr13:86471030-86471729	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr13:86439260-86439410	GM12873	blood:	n/a	n/a
16	CTCF	chr13:86439240-86439390	HAc	cerebellar:	n/a	n/a
17	CTCF	chr13:86439116-86439481	GM12878	blood:	n/a	n/a
18	CTCF	chr13:86544972-86545135	Medullo	brain:	n/a	chr13:86545043-86545064
19	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
20	CTCF	chr13:86439130-86439424	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr13:86545000-86545150	HCM	heart:	n/a	chr13:86545043-86545064
22	CTCF	chr13:86471300-86471450	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr13:86453300-86453337	LNCaP	prostate:	n/a	n/a
24	CTCF	chr13:86439220-86439370	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr13:86439198-86439400	LNCaP	prostate:	n/a	n/a
26	CTCF	chr13:86439280-86439430	GM12869	blood:	n/a	n/a
27	CTCF	chr13:86439180-86439470	GM12871	blood:	n/a	n/a
28	CTCF	chr13:86439180-86439330	BJ	skin:	n/a	n/a
29	CTCF	chr13:86439220-86439370	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr13:86471280-86471430	NHEK	skin:	n/a	n/a
31	CTCF	chr13:86471300-86471450	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr13:86439154-86439678	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr13:86544980-86545130	HMEC	breast:	n/a	chr13:86545043-86545064
34	CTCF	chr13:86473589-86473623	Lung_OC	lung:	n/a	n/a
35	CTCF	chr13:86471280-86471430	GM12874	blood:	n/a	n/a
36	CTCF	chr13:86471300-86471450	GM12874	blood:	n/a	n/a
37	CTCF	chr13:86544989-86545047	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr13:86471080-86471230	GM12871	blood:	n/a	n/a
39	CTCF	chr13:86439220-86439370	GM12873	blood:	n/a	n/a
40	CTCF	chr13:86453249-86453414	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr13:86439320-86439470	HCM	heart:	n/a	n/a
42	CTCF	chr13:86439260-86439410	RPTEC	kidney:	n/a	n/a
43	CTCF	chr13:86471300-86471450	HepG2	liver:	n/a	n/a
44	CTCF	chr13:86471320-86471470	BE2_C	brain:	n/a	n/a
45	CTCF	chr13:86439260-86439410	NHEK	skin:	n/a	n/a
46	CTCF	chr13:86439220-86439370	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr13:86507147-86507184	GM13977	blood:	n/a	n/a
48	CTCF	chr13:86471300-86471450	AG04450	lung:	n/a	n/a
49	CTCF	chr13:86439204-86439404	GM13977	blood:	n/a	n/a
50	CTCF	chr13:86443674-86443700	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85418682..85419230-chr13:86438823..86439343,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

No data

Variant related genes	Relation type
MOB1AP1	TF binding region

Extended variants
information (count: 1571 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1571 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1330036	chr13:86426757-86426758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568796761	chr13:86426758-86426759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536187657	chr13:86426813-86426814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554467415	chr13:86426852-86426853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191843035	chr13:86426906-86426907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533760735	chr13:86426929-86426930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183690826	chr13:86426962-86426963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577440118	chr13:86427019-86427020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536838832	chr13:86427081-86427082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544599574	chr13:86427082-86427083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555566614	chr13:86427111-86427112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9575974	chr13:86427126-86427127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56169913	chr13:86427156-86427157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542461663	chr13:86427264-86427265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139931349	chr13:86427305-86427306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs527851993	chr13:86427326-86427327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76065001	chr13:86427327-86427328	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577215268	chr13:86427336-86427337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs544644979	chr13:86427353-86427354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370407585	chr13:86427357-86427358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564423355	chr13:86427392-86427393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566069223	chr13:86427424-86427425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532111852	chr13:86427438-86427439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs11616682	chr13:86427468-86427469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs9566110	chr13:86427496-86427497	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529662709	chr13:86427513-86427514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562271349	chr13:86427514-86427515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188306550	chr13:86427534-86427535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs566671526	chr13:86427542-86427543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79372535	chr13:86427624-86427625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558503809	chr13:86427625-86427626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570946810	chr13:86427648-86427649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538387450	chr13:86427653-86427654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs9594058	chr13:86427706-86427707	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574844578	chr13:86427723-86427724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192390928	chr13:86427724-86427725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184897501	chr13:86427743-86427744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs72632729	chr13:86427744-86427745	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546363241	chr13:86427758-86427759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151028535	chr13:86427771-86427772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576529007	chr13:86427782-86427783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs9547409	chr13:86427787-86427788	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375552526	chr13:86427788-86427789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551835053	chr13:86427798-86427799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35275134	chr13:86427802-86427803	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547902201	chr13:86427805-86427806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560377261	chr13:86427806-86427807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117717476	chr13:86427869-86427870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs75757543	chr13:86427906-86427907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570611781	chr13:86427918-86427919	ZNF genes & repeats	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
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	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
Bipolar disorder	19114987	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86424000-86427400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:86425600-86427200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:86427200-86428600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:86427400-86428800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:86434600-86434800	Enhancers	Brain Hippocampus Middle	brain
6	chr13:86439200-86439800	Enhancers	HMEC	breast
7	chr13:86439200-86440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:86439600-86440000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:86444600-86445400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:86461400-86462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:86461400-86462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:86470200-86471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:86470200-86471600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:86470200-86471600	Enhancers	HMEC	breast
15	chr13:86470200-86471600	Enhancers	NHEK	skin
16	chr13:86470400-86471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:86474200-86475000	Enhancers	Liver	Liver
18	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
20	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:86504000-86505000	Enhancers	Liver	Liver
26	chr13:86504200-86504600	Enhancers	HepG2	liver
27	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
32	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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