Variant report

Variant	nsv1051359
Chromosome Location	chr13:89258679-89311805
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	ATF2	chr13:89303755-89304204	GM12878	blood:	n/a	n/a
2	BATF	chr13:89303772-89304165	GM12878	blood:	n/a	n/a
3	BCL11A	chr13:89303786-89304101	GM12878	blood:	n/a	n/a
4	BCL11A	chr13:89303805-89304131	GM12878	blood:	n/a	n/a
5	BCL3	chr13:89303833-89304185	GM12878	blood:	n/a	n/a
6	BRCA1	chr13:89280576-89280681	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr13:89289215-89289541	HepG2	liver:	n/a	n/a
8	CEBPB	chr13:89270759-89270935	HepG2	liver:	n/a	chr13:89270795-89270806
9	CEBPB	chr13:89290206-89290537	H1-hESC	embryonic stem cell:	n/a	chr13:89290390-89290401
10	CEBPB	chr13:89282509-89282768	HepG2	liver:	n/a	chr13:89282641-89282652
11	CEBPB	chr13:89290248-89290542	A549	lung:	n/a	chr13:89290390-89290401
12	CEBPB	chr13:89290214-89290571	Hela-S3	cervix:	n/a	chr13:89290390-89290401
13	CEBPB	chr13:89311459-89311525	K562	blood:	n/a	n/a
14	CEBPB	chr13:89290092-89290576	IMR90	lung:	n/a	chr13:89290390-89290401
15	CEBPB	chr13:89290188-89290577	HepG2	liver:	n/a	chr13:89290390-89290401
16	CEBPB	chr13:89290236-89290580	K562	blood:	n/a	chr13:89290390-89290401
17	CHD2	chr13:89302228-89302309	GM12878	blood:	n/a	n/a
18	CHD2	chr13:89303867-89304192	GM12878	blood:	n/a	n/a
19	CTCF	chr13:89298500-89298650	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr13:89298580-89298730	BE2_C	brain:	n/a	n/a
21	CTCF	chr13:89298600-89298750	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr13:89298520-89298670	HAc	cerebellar:	n/a	n/a
23	CTCF	chr13:89298520-89298670	HPF	lung:	n/a	n/a
24	CTCF	chr13:89298580-89298730	GM12865	blood:	n/a	n/a
25	CTCF	chr13:89298580-89298730	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr13:89298540-89298690	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr13:89298620-89298770	HCT-116	colon:	n/a	n/a
28	CTCF	chr13:89298520-89298670	HEK293	kidney:	n/a	n/a
29	CTCF	chr13:89298580-89298730	NB4	blood:	n/a	n/a
30	CTCF	chr13:89298440-89298590	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr13:89298480-89298630	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr13:89309155-89309211	GM20000	blood:	n/a	n/a
33	CTCF	chr13:89298600-89298750	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:89298560-89298710	BE2_C	brain:	n/a	n/a
35	CTCF	chr13:89298600-89298750	GM12872	blood:	n/a	n/a
36	CUX1	chr13:89303929-89304209	GM12878	blood:	n/a	n/a
37	CUX1	chr13:89301315-89301414	GM12878	blood:	n/a	n/a
38	CUX1	chr13:89279287-89279337	GM12878	blood:	n/a	n/a
39	E2F4	chr13:89259115-89259348	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr13:89290254-89290472	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr13:89292346-89292394	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr13:89300903-89301150	GM12878	blood:	n/a	chr13:89301085-89301096
43	EBF1	chr13:89303758-89304416	GM12878	blood:	n/a	chr13:89304072-89304083
44	EBF1	chr13:89275419-89275829	GM12878	blood:	n/a	n/a
45	EBF1	chr13:89303824-89304219	GM12878	blood:	n/a	chr13:89304072-89304083
46	EBF1	chr13:89303908-89304207	GM12878	blood:	n/a	chr13:89304072-89304083
47	EBF1	chr13:89300759-89301684	GM12878	blood:	n/a	chr13:89301085-89301096
48	EP300	chr13:89275485-89275742	GM12878	blood:	n/a	n/a
49	EP300	chr13:89275460-89275660	GM12878	blood:	n/a	n/a
50	EP300	chr13:89301018-89301142	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:89273831..89276576-chr13:89278587..89280292,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-8	chr13:89279107-89280404	ENSG00000261666.1
2	lnc-SLITRK5-8	chr13:89282351-89282651	ENSG00000261666.1
3	lnc-SLITRK5-7	chr13:89279107-89279587	NONHSAT034614

Variant related genes	Relation type
LINC00560	TF binding region
ENSG00000261666	chromatin interactions

Extended variants
information (count: 615 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12866343	chr13:89267801-89267802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12866474	chr13:89267862-89267863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535017786	chr13:89267866-89267867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553264391	chr13:89267891-89267892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571578801	chr13:89267898-89267899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143460088	chr13:89267904-89267905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556909783	chr13:89267934-89267935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12858737	chr13:89267937-89267938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80070672	chr13:89267991-89267992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566621132	chr13:89268037-89268038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542687159	chr13:89268038-89268039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554504296	chr13:89268064-89268065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182141132	chr13:89268132-89268133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12866992	chr13:89268217-89268218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540401747	chr13:89268254-89268255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565181368	chr13:89268258-89268259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577167854	chr13:89268295-89268296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545112717	chr13:89268297-89268298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563696027	chr13:89268357-89268358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538786987	chr13:89268362-89268363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530935158	chr13:89268367-89268368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148003280	chr13:89268446-89268447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12867122	chr13:89268451-89268452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185575379	chr13:89268472-89268473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190057675	chr13:89268495-89268496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546740162	chr13:89268503-89268504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571651089	chr13:89268543-89268544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546297482	chr13:89268552-89268553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538946105	chr13:89268595-89268596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550336495	chr13:89268606-89268607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1536358	chr13:89268613-89268614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1536357	chr13:89268629-89268630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35256387	chr13:89268674-89268675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117243881	chr13:89268677-89268678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76817035	chr13:89268702-89268703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533986757	chr13:89268704-89268705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117677074	chr13:89268737-89268738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181710887	chr13:89268764-89268765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1536356	chr13:89268773-89268774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200913098	chr13:89268775-89268776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372074883	chr13:89268810-89268811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114619848	chr13:89268815-89268816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542626011	chr13:89268952-89268953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186078406	chr13:89268975-89268976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528558839	chr13:89268993-89268994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546839448	chr13:89269019-89269020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190404566	chr13:89269131-89269132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528010444	chr13:89269142-89269143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542643057	chr13:89269161-89269162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532730208	chr13:89269176-89269177	Weak transcription	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
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89267800-89268800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:89268800-89270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:89270200-89270400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:89271400-89274400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:89273800-89276000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:89274000-89276400	Enhancers	Primary T cells from cord blood	blood
7	chr13:89274400-89274600	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr13:89274400-89274800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:89274400-89275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:89274400-89275600	Enhancers	NHEK	skin
11	chr13:89274400-89275800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:89274600-89274800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr13:89274600-89274800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr13:89274600-89275000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:89274600-89275200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr13:89274800-89275000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr13:89274800-89275200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr13:89274800-89275200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:89274800-89276000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:89275000-89276600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr13:89275200-89275600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr13:89275200-89277200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:89275600-89276200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr13:89275600-89278600	Weak transcription	NHEK	skin
25	chr13:89276400-89276600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr13:89276600-89277200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr13:89277200-89277400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:89277400-89278600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr13:89278600-89280000	Enhancers	NHEK	skin
30	chr13:89280200-89281200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr13:89281200-89281400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr13:89301400-89301600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:89301600-89302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:89302200-89302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:89307800-89308000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:89308800-89309000	Enhancers	Hela-S3	cervix
37	chr13:89309000-89309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:89309000-89309400	Flanking Active TSS	Hela-S3	cervix
39	chr13:89309400-89309600	Enhancers	Hela-S3	cervix

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