Variant report

Variant	esv3434870
Chromosome Location	chr1:165497978-165500276
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	MAFK	chr1:165500263-165500465	HepG2	liver:	n/a	chr1:165500355-165500366 chr1:165500355-165500366 chr1:165500350-165500365
2	POLR2A	chr1:165498868-165498873	K562	blood:	n/a	n/a
3	POLR2A	chr1:165499611-165499768	K562	blood:	n/a	n/a
4	STAT3	chr1:165500234-165500402	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF274	chr1:165498846-165499245	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165480828..165483670-chr1:165500006..165502209,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXRG-1	chr1:165498020-165498119	NONHSAT007314
2	lnc-RXRG-1	chr1:165498020-165498121	ENSG00000237463.1

Variant related genes	Relation type
ENSG00000237463	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543801154	chr1:165498056-165498057	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs557397641	chr1:165498070-165498071	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574156380	chr1:165498071-165498072	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537511346	chr1:165498152-165498153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375138952	chr1:165498169-165498170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543124620	chr1:165498202-165498203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2114047	chr1:165498211-165498212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559258952	chr1:165498254-165498255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16846410	chr1:165498289-165498290	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187798672	chr1:165498303-165498304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs176230	chr1:165498335-165498336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs398297	chr1:165498357-165498358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192760979	chr1:165498390-165498391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554434074	chr1:165498458-165498459	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1913840	chr1:165498472-165498473	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34505661	chr1:165498526-165498527	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs57131010	chr1:165498596-165498597	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12060030	chr1:165498640-165498641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58628453	chr1:165498651-165498652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375130269	chr1:165498781-165498782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34548882	chr1:165498798-165498799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71732157	chr1:165498799-165498800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28396786	chr1:165498804-165498805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3074728	chr1:165498806-165498807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61511522	chr1:165498807-165498808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113949707	chr1:165498825-165498826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149185014	chr1:165498853-165498854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184171302	chr1:165498859-165498860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs7550844	chr1:165498860-165498861	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs571924659	chr1:165498864-165498865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2162143	chr1:165498918-165498919	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12058992	chr1:165498921-165498922	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546620144	chr1:165498941-165498942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376754279	chr1:165498942-165498943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs386368574	chr1:165498943-165498944	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs59443114	chr1:165498944-165498945	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552599738	chr1:165498954-165498955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62648294	chr1:165499020-165499021	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143326316	chr1:165499053-165499054	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs62641621	chr1:165499063-165499064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs61800607	chr1:165499088-165499089	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200392780	chr1:165499093-165499094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs67030470	chr1:165499096-165499097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201592399	chr1:165499097-165499098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs60679525	chr1:165499098-165499099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs398103322	chr1:165499101-165499102	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs61800608	chr1:165499102-165499103	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542749092	chr1:165499105-165499106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs149126149	chr1:165499145-165499146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138190491	chr1:165499154-165499155	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	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
Lung cancer	18438408	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
Breast cancer	17899364	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
Type 2 diabetes	19141583	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
Breast cancer	21509527	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
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165497000-165501400	Weak transcription	Left Ventricle	heart
2	chr1:165497200-165499400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:165497200-165499400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:165497200-165501400	Weak transcription	Right Ventricle	heart
5	chr1:165497400-165498400	Enhancers	Fetal Heart	heart
6	chr1:165498400-165498600	Flanking Active TSS	Fetal Heart	heart
7	chr1:165498600-165498800	Enhancers	Fetal Heart	heart
8	chr1:165498800-165499200	Weak transcription	Fetal Heart	heart
9	chr1:165499200-165501800	Enhancers	Fetal Heart	heart
10	chr1:165499400-165499600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:165499400-165499600	Enhancers	Right Atrium	heart
12	chr1:165499400-165499800	Enhancers	Psoas Muscle	Psoas
13	chr1:165499400-165502800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:165499400-165504200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:165499600-165500000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:165499600-165500400	Weak transcription	Right Atrium	heart
17	chr1:165499800-165500800	Weak transcription	Psoas Muscle	Psoas
18	chr1:165500000-165500400	Enhancers	Fetal Lung	lung
19	chr1:165500000-165501000	Enhancers	Liver	Liver
20	chr1:165500000-165503000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:165500200-165500800	Enhancers	Adipose Nuclei	Adipose

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