Variant report

Variant	nsv900734
Chromosome Location	chr13:86415632-86911159
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	chr13:86686664-86686974	HepG2	liver:	n/a	chr13:86686791-86686802
3	CEBPB	chr13:86686647-86686917	A549	lung:	n/a	chr13:86686791-86686802
4	CEBPB	chr13:86504325-86504590	HepG2	liver:	n/a	n/a
5	CEBPB	chr13:86432530-86432778	A549	lung:	n/a	n/a
6	CEBPB	chr13:86563110-86563455	IMR90	lung:	n/a	chr13:86563278-86563289
7	CEBPB	chr13:86618085-86618392	H1-hESC	embryonic stem cell:	n/a	chr13:86618119-86618130
8	CEBPB	chr13:86449847-86450054	IMR90	lung:	n/a	chr13:86449887-86449898
9	CEBPB	chr13:86617988-86618425	HepG2	liver:	n/a	chr13:86618119-86618130 chr13:86618397-86618410
10	CEBPB	chr13:86686654-86686949	IMR90	lung:	n/a	chr13:86686791-86686802
11	CEBPB	chr13:86563158-86563433	Hela-S3	cervix:	n/a	chr13:86563278-86563289
12	CEBPB	chr13:86434116-86434308	K562	blood:	n/a	n/a
13	CEBPB	chr13:86686733-86686933	H1-hESC	embryonic stem cell:	n/a	chr13:86686791-86686802
14	CEBPB	chr13:86559964-86560347	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr13:86432512-86432732	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr13:86432453-86432804	IMR90	lung:	n/a	n/a
17	CEBPB	chr13:86751110-86751310	IMR90	lung:	n/a	n/a
18	CEBPB	chr13:86559926-86560255	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr13:86594499-86594910	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr13:86571759-86572199	Hela-S3	cervix:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
21	CEBPB	chr13:86630656-86630913	A549	lung:	n/a	chr13:86630756-86630767
22	CEBPB	chr13:86563188-86563446	A549	lung:	n/a	chr13:86563278-86563289
23	CEBPB	chr13:86563271-86563343	K562	blood:	n/a	chr13:86563278-86563289
24	CEBPB	chr13:86702057-86702340	HepG2	liver:	n/a	chr13:86702099-86702112 chr13:86702227-86702238
25	CEBPB	chr13:86578207-86578397	A549	lung:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
26	CEBPB	chr13:86578174-86578462	HepG2	liver:	n/a	chr13:86578323-86578334 chr13:86578323-86578336
27	CEBPB	chr13:86416465-86416805	HepG2	liver:	n/a	chr13:86416644-86416655 chr13:86416643-86416656
28	CEBPB	chr13:86594469-86594938	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr13:86617956-86618283	IMR90	lung:	n/a	chr13:86618119-86618130
30	CEBPB	chr13:86563140-86563442	HepG2	liver:	n/a	chr13:86563278-86563289
31	CEBPB	chr13:86448798-86448961	HepG2	liver:	n/a	chr13:86448866-86448877
32	CEBPB	chr13:86449776-86450036	HepG2	liver:	n/a	chr13:86449887-86449898
33	CEBPB	chr13:86618025-86618236	A549	lung:	n/a	chr13:86618119-86618130
34	CEBPB	chr13:86571834-86572098	A549	lung:	n/a	chr13:86572009-86572020 chr13:86572007-86572020 chr13:86572009-86572018 chr13:86572007-86572020 chr13:86571852-86571863
35	CEBPB	chr13:86449880-86449925	H1-hESC	embryonic stem cell:	n/a	chr13:86449887-86449898
36	CEBPB	chr13:86630585-86630894	HepG2	liver:	n/a	chr13:86630756-86630767
37	CEBPB	chr13:86432483-86432781	HepG2	liver:	n/a	n/a
38	CHD1	chr13:86580317-86580340	GM12878	blood:	n/a	n/a
39	CHD1	chr13:86586758-86586857	GM12878	blood:	n/a	n/a
40	CHD2	chr13:86564670-86564862	GM12878	blood:	n/a	n/a
41	CTCF	chr13:86439180-86439330	GM12866	blood:	n/a	n/a
42	CTCF	chr13:86439180-86439330	HMEC	breast:	n/a	n/a
43	CTCF	chr13:86471367-86471460	Medullo	brain:	n/a	n/a
44	CTCF	chr13:86471300-86471450	AG04450	lung:	n/a	n/a
45	CTCF	chr13:86471380-86471530	GM12865	blood:	n/a	n/a
46	CTCF	chr13:86544960-86545110	HPF	lung:	n/a	chr13:86545043-86545064
47	CTCF	chr13:86544980-86545130	HRPEpiC	eye:	n/a	chr13:86545043-86545064
48	CTCF	chr13:86660120-86660270	HL-60	blood:	n/a	n/a
49	CTCF	chr13:86471315-86471501	LNCaP	prostate:	n/a	n/a
50	CTCF	chr13:86439180-86439330	HA-sp	spinal cord:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:86659949..86660780-chr13:87926156..87926672,2	MCF-7	breast:
2	chr13:86660097..86660644-chr13:87926317..87926878,2	MCF-7	breast:
3	chr13:86659406..86660238-chr13:87098032..87098996,2	MCF-7	breast:
4	chr13:85418682..85419230-chr13:86438823..86439343,2	MCF-7	breast:
5	chr13:86748899..86749431-chr13:87116065..87116706,2	MCF-7	breast:
6	chr13:86659938..86660554-chr9:128222217..128222943,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-10	chr13:86744980-86745025	ENSG00000232252
2	lnc-SLITRK5-27	chr13:86543134-86543668	NONHSAT034571
3	lnc-SLITRK5-26	chr13:86610769-86611034	NONHSAT034572
4	lnc-SLITRK6-13	chr13:86894248-86895386	NONHSAT034575
5	lnc-SLITRK5-10	chr13:86634948-86634995	ENSG00000232252
6	lnc-SLITRK6-13	chr13:86897352-86897489	NONHSAT034575
7	lnc-SLITRK5-25	chr13:86645552-86645612	NONHSAT034574
8	lnc-SLITRK5-25	chr13:86641833-86642021	NONHSAT034574
9	lnc-SLITRK5-26	chr13:86575237-86575286	NONHSAT034572
10	lnc-SLITRK5-10	chr13:86646962-86647061	ENSG00000232252

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

Extended variants
information (count: 3743 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3743 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9285339	chr13:86415632-86415633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550845556	chr13:86415643-86415644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556347843	chr13:86415677-86415678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199574656	chr13:86415703-86415704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574819367	chr13:86415708-86415709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182718082	chr13:86415720-86415721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560489111	chr13:86415765-86415766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72632708	chr13:86415821-86415822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551426049	chr13:86415825-86415826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138026169	chr13:86415878-86415879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56954094	chr13:86415925-86415926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532053752	chr13:86415964-86415965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566420666	chr13:86415980-86415981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200620180	chr13:86415982-86415983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550085402	chr13:86415990-86415991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35456636	chr13:86416002-86416003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533555039	chr13:86416013-86416014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191426538	chr13:86416113-86416114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529732349	chr13:86416125-86416126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547833084	chr13:86416170-86416171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72632710	chr13:86416254-86416255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533510504	chr13:86416277-86416278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578260081	chr13:86416413-86416414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552172266	chr13:86416418-86416419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184465082	chr13:86416442-86416443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545596992	chr13:86416450-86416451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116943535	chr13:86416459-86416460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1184906	chr13:86416491-86416492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs574620455	chr13:86416551-86416552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535651126	chr13:86416553-86416554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554269130	chr13:86416566-86416567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376508176	chr13:86416580-86416581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72632713	chr13:86416582-86416583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535137523	chr13:86416604-86416605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17610773	chr13:86416621-86416622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565606472	chr13:86416683-86416684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61968878	chr13:86416697-86416698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544136833	chr13:86416715-86416716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72632715	chr13:86416735-86416736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529404668	chr13:86416803-86416804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72632717	chr13:86416804-86416805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190576117	chr13:86416815-86416816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527411971	chr13:86416896-86416897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551868869	chr13:86416908-86416909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570464755	chr13:86416966-86416967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113577159	chr13:86416987-86416988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550000955	chr13:86416989-86416990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568375296	chr13:86417000-86417001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35375474	chr13:86417083-86417084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375384210	chr13:86417099-86417100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86415200-86423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:86423800-86425600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:86424000-86427400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:86425600-86427200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:86427200-86428600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:86427400-86428800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:86434600-86434800	Enhancers	Brain Hippocampus Middle	brain
8	chr13:86439200-86439800	Enhancers	HMEC	breast
9	chr13:86439200-86440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:86439600-86440000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:86444600-86445400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr13:86461400-86462000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:86461400-86462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:86470200-86471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:86470200-86471600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:86470200-86471600	Enhancers	HMEC	breast
17	chr13:86470200-86471600	Enhancers	NHEK	skin
18	chr13:86470400-86471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:86474200-86475000	Enhancers	Liver	Liver
20	chr13:86479600-86483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:86480400-86480800	Enhancers	Fetal Heart	heart
22	chr13:86483400-86483600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:86483600-86491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:86491600-86493000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:86491800-86492000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr13:86493000-86493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:86504000-86505000	Enhancers	Liver	Liver
28	chr13:86504200-86504600	Enhancers	HepG2	liver
29	chr13:86509200-86512400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:86528400-86528800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:86537600-86537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:86538000-86540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:86539400-86549200	Weak transcription	Right Atrium	heart
34	chr13:86540800-86541600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:86540800-86541800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:86541000-86541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:86542600-86543000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:86542800-86543200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:86543000-86544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:86548000-86549600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:86548600-86549400	Enhancers	HUVEC	blood vessel
42	chr13:86548600-86549600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:86548600-86549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:86548600-86549600	Enhancers	Hela-S3	cervix
45	chr13:86548600-86550200	Enhancers	Fetal Heart	heart
46	chr13:86548800-86549400	Enhancers	HMEC	breast
47	chr13:86549000-86549400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:86549000-86549400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:86549000-86549400	Enhancers	NH-A	brain
50	chr13:86549200-86549600	Active TSS	Right Atrium	heart

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