Variant report

Variant	nsv900737
Chromosome Location	chr13:86429834-86639464
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	BACH1	chr13:86468449-86468546	K562	blood:	n/a	n/a
2	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
4	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
5	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
6	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
7	CEBPB	chr13:86449776-86450036	HepG2	liver:	n/a	chr13:86449887-86449898
8	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
9	CEBPB	chr13:86449880-86449925	H1-hESC	embryonic stem cell:	n/a	chr13:86449887-86449898
10	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
11	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr13:86432453-86432804	IMR90	lung:	n/a	n/a
13	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr13:86432530-86432778	A549	lung:	n/a	n/a
15	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
16	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
18	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
19	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
20	CEBPB	chr13:86432483-86432781	HepG2	liver:	n/a	n/a
21	CEBPB	chr13:86432512-86432732	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr13:86448798-86448961	HepG2	liver:	n/a	chr13:86448866-86448877
23	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
24	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
25	CEBPB	chr13:86434116-86434308	K562	blood:	n/a	n/a
26	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
27	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
28	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
29	CEBPB	chr13:86449847-86450054	IMR90	lung:	n/a	chr13:86449887-86449898
30	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
31	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
32	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
33	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
34	CTCF	chr13:86439160-86439310	HAc	cerebellar:	n/a	n/a
35	CTCF	chr13:86439200-86439350	SAEC	small airway:	n/a	n/a
36	CTCF	chr13:86443674-86443700	ProgFib	skin:	n/a	n/a
37	CTCF	chr13:86439116-86439481	GM12878	blood:	n/a	n/a
38	CTCF	chr13:86439180-86439330	GM12866	blood:	n/a	n/a
39	CTCF	chr13:86471185-86471584	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr13:86471320-86471470	HCT-116	colon:	n/a	n/a
41	CTCF	chr13:86599196-86599277	Lung_OC	lung:	n/a	n/a
42	CTCF	chr13:86471200-86471350	HCT-116	colon:	n/a	n/a
43	CTCF	chr13:86507147-86507184	GM13977	blood:	n/a	n/a
44	CTCF	chr13:86439194-86439410	HepG2	liver:	n/a	n/a
45	CTCF	chr13:86439200-86439420	MCF-7	breast:	n/a	n/a
46	CTCF	chr13:86439220-86439370	Caco-2	colon:	n/a	n/a
47	CTCF	chr13:86471300-86471450	GM12874	blood:	n/a	n/a
48	CTCF	chr13:86471320-86471470	NB4	blood:	n/a	n/a
49	CTCF	chr13:86544913-86545202	GM12878	blood:	n/a	chr13:86545043-86545064
50	CTCF	chr13:86439220-86439370	HFF-Myc	foreskin:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
2	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
3	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252
4	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571

Variant related genes	Relation type
MOB1AP1	TF binding region
ENSG00000232252	TF binding region

Extended variants
information (count: 2639 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2639 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79583663	chr13:86434610-86434611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143285973	chr13:86434636-86434637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147513814	chr13:86434667-86434668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34750533	chr13:86434689-86434690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186147965	chr13:86434694-86434695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537634574	chr13:86434695-86434696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575808545	chr13:86434699-86434700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536306805	chr13:86434769-86434770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556010676	chr13:86434775-86434776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574963972	chr13:86439207-86439208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71440202	chr13:86439227-86439228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530219449	chr13:86439411-86439412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187274491	chr13:86439413-86439414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554259777	chr13:86439419-86439420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191165701	chr13:86439486-86439487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146935955	chr13:86439533-86439534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548795508	chr13:86439564-86439565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9602858	chr13:86439593-86439594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532123991	chr13:86439595-86439596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77436016	chr13:86439647-86439648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544213524	chr13:86439682-86439683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562779235	chr13:86439710-86439711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529933136	chr13:86439749-86439750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181483787	chr13:86439756-86439757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566978252	chr13:86439797-86439798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2094750	chr13:86439816-86439817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552632340	chr13:86439821-86439822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570792810	chr13:86439822-86439823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186171595	chr13:86439834-86439835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200073880	chr13:86439836-86439837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190056989	chr13:86439859-86439860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183305965	chr13:86439952-86439953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569337689	chr13:86444624-86444625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536654492	chr13:86444738-86444739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554953284	chr13:86444751-86444752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9566111	chr13:86444806-86444807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534264487	chr13:86444836-86444837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542976809	chr13:86444866-86444867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377361286	chr13:86444888-86444889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577394124	chr13:86445006-86445007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368944648	chr13:86445015-86445016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9531870	chr13:86445074-86445075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372078988	chr13:86445089-86445090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181894888	chr13:86445123-86445124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60609565	chr13:86445128-86445129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557957521	chr13:86445164-86445165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117092654	chr13:86445237-86445238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369791367	chr13:86445239-86445240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542312084	chr13:86445250-86445251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560591315	chr13:86445272-86445273	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86434600-86434800	Enhancers	Brain Hippocampus Middle	brain
2	chr13:86439200-86439800	Enhancers	HMEC	breast
3	chr13:86439200-86440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:86439600-86440000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:86444600-86445400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr13:86461400-86462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:86461400-86462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:86470200-86471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:86470200-86471600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:86470200-86471600	Enhancers	HMEC	breast
11	chr13:86470200-86471600	Enhancers	NHEK	skin
12	chr13:86470400-86471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:86474200-86475000	Enhancers	Liver	Liver
14	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
16	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:86504000-86505000	Enhancers	Liver	Liver
22	chr13:86504200-86504600	Enhancers	HepG2	liver
23	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
28	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
36	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
39	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
40	chr13:86548800-86549400	Enhancers	HMEC	breast
41	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:86549000-86549400	Enhancers	NH-A	brain
44	chr13:86549200-86549600	Active TSS	Right Atrium	heart
45	chr13:86549600-86550200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:86549600-86550600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:86550200-86550400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:86550600-86550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr13:86554200-86554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:86559400-86560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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