Variant report

Variant	esv3386659
Chromosome Location	chr1:242208979-242215777
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	FOXA1	chr1:242214317-242214536	HepG2	liver:	n/a	n/a
2	FOXA2	chr1:242214054-242214789	A549	lung:	n/a	n/a
3	FOXA2	chr1:242214220-242214667	A549	lung:	n/a	n/a
4	HEY1	chr1:242214694-242214927	K562	blood:	n/a	n/a
5	JUND	chr1:242214967-242214987	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:242215526-242215627	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:242214356-242214565	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr1:242214386-242214545	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:242214365-242214547	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr1:242214812-242214939	K562	blood:	n/a	chr1:242214867-242214879
11	YY1	chr1:242214788-242214953	H1-hESC	embryonic stem cell:	n/a	chr1:242214867-242214879

Variant related genes	Relation type
TUBB8P6	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376529991	chr1:242214407-242214408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs370038168	chr1:242214427-242214428	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373355814	chr1:242214444-242214445	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145372137	chr1:242214451-242214452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs61484511	chr1:242214462-242214463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149209778	chr1:242214486-242214487	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112113704	chr1:242214497-242214498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560623174	chr1:242214503-242214504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369633176	chr1:242214517-242214518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373501887	chr1:242214521-242214522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557849131	chr1:242214527-242214528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544303003	chr1:242214538-242214539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552369792	chr1:242214563-242214564	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570981967	chr1:242214585-242214586	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568066569	chr1:242214596-242214597	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530548070	chr1:242214605-242214606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12727414	chr1:242214644-242214645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192172082	chr1:242214677-242214678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529831888	chr1:242214719-242214720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12407849	chr1:242214724-242214725	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553192267	chr1:242214749-242214750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566669306	chr1:242214753-242214754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113914950	chr1:242214760-242214761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12408998	chr1:242214781-242214782	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200267150	chr1:242214782-242214783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566554436	chr1:242214789-242214790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12401590	chr1:242214821-242214822	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs12408999	chr1:242214828-242214829	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374644020	chr1:242214842-242214843	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554661266	chr1:242214852-242214853	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574726742	chr1:242214854-242214855	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs540275441	chr1:242214866-242214867	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560801799	chr1:242214870-242214871	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149034611	chr1:242214883-242214884	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545965483	chr1:242214924-242214925	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs200563454	chr1:242214957-242214958	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143010922	chr1:242214962-242214963	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201707359	chr1:242214965-242214966	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs114412235	chr1:242214987-242214988	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185575254	chr1:242214988-242214989	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs151172674	chr1:242215007-242215008	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140306105	chr1:242215021-242215022	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529657807	chr1:242215028-242215029	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs80325536	chr1:242215054-242215055	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546301146	chr1:242215072-242215073	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556950154	chr1:242215091-242215092	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373308375	chr1:242215111-242215112	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538971989	chr1:242215117-242215118	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552393104	chr1:242215129-242215130	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569118867	chr1:242215158-242215159	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242214400-242214800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:242214400-242215000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:242214800-242215000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:242214800-242215200	Active TSS	K562	blood
5	chr1:242215000-242215200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:242215000-242215200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:242215000-242215200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:242215000-242215200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:242215000-242215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:242215000-242215800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:242215000-242216400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:242215200-242216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:242215200-242216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:242215200-242216400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:242215200-242216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:242215400-242216400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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