Variant report

Variant	esv3404864
Chromosome Location	chr1:171064478-171066576
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	ZNF274	chr1:171065617-171065836	K562	blood:	n/a	n/a

Variant related genes	Relation type
FMO3	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552210070	chr1:171064541-171064542	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528076010	chr1:171064621-171064622	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs80274807	chr1:171064633-171064634	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28363527	chr1:171064704-171064705	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546864329	chr1:171064705-171064706	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370359976	chr1:171064713-171064714	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566170994	chr1:171064725-171064726	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112875662	chr1:171064760-171064761	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536357481	chr1:171064833-171064834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200656733	chr1:171064873-171064874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190685191	chr1:171064883-171064884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200715887	chr1:171064886-171064887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72399047	chr1:171064887-171064888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183483206	chr1:171064906-171064907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75984329	chr1:171064921-171064922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188968306	chr1:171064925-171064926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79543595	chr1:171064944-171064945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558810841	chr1:171064952-171064953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193242440	chr1:171064981-171064982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371906542	chr1:171064994-171064995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376389874	chr1:171064999-171065000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368275136	chr1:171065000-171065001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182699086	chr1:171065003-171065004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376309689	chr1:171065009-171065010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369998633	chr1:171065014-171065015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186573324	chr1:171065016-171065017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373882460	chr1:171065026-171065027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372036454	chr1:171065044-171065045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375096837	chr1:171065046-171065047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368673341	chr1:171065051-171065052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373816389	chr1:171065058-171065059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs67478351	chr1:171065060-171065061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374336664	chr1:171065061-171065062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367947231	chr1:171065062-171065063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577142996	chr1:171065069-171065070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371040798	chr1:171065073-171065074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541219596	chr1:171065078-171065079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191157225	chr1:171065079-171065080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371718160	chr1:171065085-171065086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563492848	chr1:171065089-171065090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375737760	chr1:171065090-171065091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369113916	chr1:171065091-171065092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372783203	chr1:171065092-171065093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377284883	chr1:171065093-171065094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532575513	chr1:171065096-171065097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369979870	chr1:171065107-171065108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184045854	chr1:171065120-171065121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552418876	chr1:171065155-171065156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188383573	chr1:171065182-171065183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373228386	chr1:171065204-171065205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171064000-171064800	Flanking Active TSS	Liver	Liver
2	chr1:171064800-171068800	Weak transcription	Liver	Liver

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