Variant report

Variant	nsv965744
Chromosome Location	chr6:88151722-88154668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:88152186-88152321	HepG2	liver:	n/a	n/a
2	CHD2	chr6:88154082-88154423	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:88152154-88152185	GM12878	blood:	n/a	n/a
4	GTF2F1	chr6:88154241-88154404	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUN	chr6:88154398-88154495	K562	blood:	n/a	n/a
6	MAX	chr6:88154174-88154407	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr6:88154154-88154515	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr6:88154060-88154449	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr6:88154071-88154635	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr6:88154104-88154425	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr6:88154171-88154476	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr6:88154007-88154557	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr6:88154022-88154588	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr6:88154117-88154463	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr6:88154036-88154521	HepG2	liver:	n/a	n/a
16	TEAD4	chr6:88153946-88154647	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr6:88153910-88154431	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr6:88154001-88154409	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RARS2-2	chr6:88150883-88151864	NONHSAT113905
2	lnc-RARS2-1	chr6:88154113-88154893	NONHSAT113906

No data

Variant related genes	Relation type
ENSG00000218793	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528026117	chr6:88151726-88151727	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs377334344	chr6:88151745-88151746	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs376007565	chr6:88151800-88151801	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs549244862	chr6:88151801-88151802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144416153	chr6:88151812-88151813	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs531353581	chr6:88151817-88151818	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114502715	chr6:88151866-88151867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570276587	chr6:88151890-88151891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192487338	chr6:88151904-88151905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538727688	chr6:88151919-88151920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547658471	chr6:88151972-88151973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114942254	chr6:88151985-88151986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182476451	chr6:88152000-88152001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545407116	chr6:88152037-88152038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576226170	chr6:88152110-88152111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538238007	chr6:88152215-88152216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148606366	chr6:88152238-88152239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs577758221	chr6:88152282-88152283	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545097591	chr6:88152304-88152305	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565344882	chr6:88152350-88152351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560343340	chr6:88152399-88152400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537898236	chr6:88152425-88152426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187460928	chr6:88152457-88152458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192944654	chr6:88152463-88152464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9294379	chr6:88152535-88152536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs531869446	chr6:88152577-88152578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184639978	chr6:88152641-88152642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9444499	chr6:88152642-88152643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs386703515	chr6:88152667-88152668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143203411	chr6:88152673-88152674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9294381	chr6:88152681-88152682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs529934821	chr6:88152743-88152744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576728765	chr6:88152767-88152768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569946191	chr6:88152797-88152798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531038465	chr6:88152899-88152900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556570217	chr6:88152949-88152950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189765137	chr6:88152971-88152972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79349767	chr6:88153030-88153031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538783213	chr6:88153054-88153055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553865683	chr6:88153093-88153094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572179591	chr6:88153159-88153160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543209439	chr6:88153171-88153172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146685387	chr6:88153199-88153200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192243138	chr6:88153303-88153304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199615548	chr6:88153308-88153309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184307930	chr6:88153326-88153327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140300749	chr6:88153334-88153335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144072385	chr6:88153380-88153381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189519245	chr6:88153478-88153479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9450685	chr6:88153608-88153609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88150000-88154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:88153400-88155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:88153800-88154000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:88154000-88154200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:88154000-88154400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:88154000-88154400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:88154000-88154600	Enhancers	Fetal Heart	heart
8	chr6:88154000-88154800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:88154000-88154800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:88154000-88154800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:88154000-88154800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:88154000-88154800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:88154000-88154800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:88154000-88154800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:88154000-88154800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:88154000-88154800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:88154000-88154800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:88154000-88155200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:88154000-88155200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:88154200-88154400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:88154400-88154600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:88154400-88154600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:88154400-88154800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:88154400-88154800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:88154400-88155200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:88154600-88154800	Enhancers	HUES6 Cell Line	embryonic stem cell

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