Variant report

Variant	esv3453534
Chromosome Location	chr1:241691676-241692024
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	JUND	chr1:241691939-241692196	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:241673338..241676303-chr1:241690156..241692248,2	K562	blood:

Variant related genes	Relation type
KMO	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376862371	chr1:241691683-241691684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151320108	chr1:241691703-241691704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200218298	chr1:241691715-241691716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2992643	chr1:241691728-241691729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537035889	chr1:241691729-241691730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557295001	chr1:241691776-241691777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574066038	chr1:241691793-241691794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576542501	chr1:241691833-241691834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191926947	chr1:241691851-241691852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573470500	chr1:241691858-241691859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75928083	chr1:241691922-241691923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565420957	chr1:241691925-241691926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112109336	chr1:241691953-241691954	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs578165117	chr1:241691961-241691962	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185210885	chr1:241691962-241691963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188478716	chr1:241691975-241691976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs199639002	chr1:241692016-241692017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147675995	chr1:241692017-241692018	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560765808	chr1:241692021-241692022	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	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 lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	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
Schizophrenia	17989066	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241690600-241693800	Weak transcription	Liver	Liver
2	chr1:241690800-241692000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:241691200-241694400	Weak transcription	K562	blood
4	chr1:241691200-241694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:241691400-241694000	Weak transcription	A549	lung
6	chr1:241691800-241692000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:241692000-241694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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