Variant report

Variant	esv1809786
Chromosome Location	chr1:144157874-144224346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144157512-144157961	GM12878	blood:	n/a	chr1:144157741-144157749
2	BATF	chr1:144157508-144157950	GM12878	blood:	n/a	chr1:144157741-144157749
3	BCL11A	chr1:144158386-144158606	GM12878	blood:	n/a	n/a
4	CEBPD	chr1:144176268-144176710	K562	blood:	n/a	n/a
5	CEBPD	chr1:144188923-144189352	K562	blood:	n/a	n/a
6	CEBPD	chr1:144165171-144165508	K562	blood:	n/a	n/a
7	CEBPD	chr1:144206482-144206804	K562	blood:	n/a	n/a
8	CEBPD	chr1:144184248-144184598	K562	blood:	n/a	n/a
9	CEBPD	chr1:144193741-144194185	K562	blood:	n/a	n/a
10	CEBPD	chr1:144160384-144160861	K562	blood:	n/a	n/a
11	CEBPD	chr1:144198550-144198952	K562	blood:	n/a	n/a
12	CEBPD	chr1:144212848-144213218	K562	blood:	n/a	n/a
13	CEBPD	chr1:144179439-144179902	K562	blood:	n/a	n/a
14	CEBPD	chr1:144201788-144202140	K562	blood:	n/a	n/a
15	EP300	chr1:144189184-144189196	K562	blood:	n/a	n/a
16	ESR1	chr1:144157304-144158152	T-47D	breast:	n/a	n/a
17	FOXA2	chr1:144198506-144198988	A549	lung:	n/a	n/a
18	FOXA2	chr1:144206461-144206910	A549	lung:	n/a	n/a
19	FOXA2	chr1:144193633-144194219	A549	lung:	n/a	n/a
20	FOXA2	chr1:144215953-144216421	A549	lung:	n/a	n/a
21	FOXA2	chr1:144209586-144209995	A549	lung:	n/a	n/a
22	FOXA2	chr1:144169841-144170341	A549	lung:	n/a	n/a
23	FOXA2	chr1:144172955-144173532	A549	lung:	n/a	n/a
24	FOXA2	chr1:144184254-144184684	A549	lung:	n/a	n/a
25	GATA2	chr1:144189081-144189268	K562	blood:	n/a	chr1:144189227-144189239 chr1:144189226-144189239 chr1:144189229-144189237
26	IRF4	chr1:144157489-144157959	GM12878	blood:	n/a	n/a
27	IRF4	chr1:144157416-144157913	GM12878	blood:	n/a	n/a
28	NR2F2	chr1:144206350-144206879	K562	blood:	n/a	n/a
29	NR2F2	chr1:144220778-144221167	K562	blood:	n/a	n/a
30	NR2F2	chr1:144198482-144198945	K562	blood:	n/a	n/a
31	NR2F2	chr1:144169868-144170293	K562	blood:	n/a	n/a
32	NR2F2	chr1:144173084-144173443	K562	blood:	n/a	n/a
33	NR2F2	chr1:144165204-144165550	K562	blood:	n/a	n/a
34	NR2F2	chr1:144179487-144179812	K562	blood:	n/a	n/a
35	NR2F2	chr1:144184247-144184594	K562	blood:	n/a	n/a
36	NR2F2	chr1:144209666-144210017	K562	blood:	n/a	n/a
37	NR2F2	chr1:144160411-144160824	K562	blood:	n/a	n/a
38	NR2F2	chr1:144193806-144194153	K562	blood:	n/a	n/a
39	NR2F2	chr1:144206458-144206838	K562	blood:	n/a	n/a
40	NR2F2	chr1:144179442-144179881	K562	blood:	n/a	n/a
41	NR2F2	chr1:144198550-144198915	K562	blood:	n/a	n/a
42	NR2F2	chr1:144188996-144189450	K562	blood:	n/a	n/a
43	NR2F2	chr1:144176322-144176660	K562	blood:	n/a	n/a
44	NR2F2	chr1:144188977-144189356	K562	blood:	n/a	n/a
45	NR2F2	chr1:144201660-144202042	K562	blood:	n/a	n/a
46	NR2F2	chr1:144176205-144176732	K562	blood:	n/a	n/a
47	NR2F2	chr1:144216055-144216397	K562	blood:	n/a	n/a
48	NR2F2	chr1:144169891-144170417	K562	blood:	n/a	n/a
49	NR2F2	chr1:144201670-144202092	K562	blood:	n/a	n/a
50	POLR2A	chr1:144204479-144204852	SK-N-MC	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-3	chr1:144212643-144213017	NONHSAT005770
2	lnc-AL592284.1-3	chr1:144213727-144213778	NONHSAT005770
3	lnc-AL592284.1-3	chr1:144215316-144215424	NONHSAT005770
4	lnc-AL592284.1-4	chr1:144167648-144167711	NONHSAT005769
5	lnc-AL592284.1-3	chr1:144214429-144214601	NONHSAT005770
6	lnc-AL592284.1-4	chr1:144166564-144166933	NONHSAT005769

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NBPF15	hsa-let-7b-5p	chr1:144166620-144166640
2	NBPF15	hsa-let-7b-5p	chr1:144174551-144174571
3	NBPF15	hsa-let-7b-5p	chr1:144199965-144199985

Variant related genes	Relation type
NBPF8	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 166 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199899340	chr1:144170346-144170347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113337668	chr1:144196324-144196325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61801150	chr1:144196411-144196412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199971531	chr1:144196716-144196717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200892911	chr1:144196749-144196750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1977590	chr1:144196838-144196839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3930669	chr1:144197037-144197038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3929803	chr1:144197101-144197102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587725736	chr1:144197106-144197107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3979062	chr1:144197138-144197139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371730745	chr1:144197155-144197156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375119722	chr1:144197204-144197205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4125362	chr1:144197278-144197279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3961678	chr1:144197302-144197303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3929532	chr1:144197311-144197312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3961699	chr1:144197330-144197331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs3929533	chr1:144197335-144197336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3979068	chr1:144197336-144197337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3961679	chr1:144197371-144197372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71246293	chr1:144197393-144197394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3961681	chr1:144197399-144197400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587611984	chr1:144197411-144197412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587659816	chr1:144197418-144197419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71219684	chr1:144197423-144197424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587747734	chr1:144197427-144197428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3929534	chr1:144197441-144197442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76357434	chr1:144197444-144197445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201422889	chr1:144197446-144197447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3929535	chr1:144197462-144197463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74403817	chr1:144197486-144197487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3929536	chr1:144197487-144197488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77304430	chr1:144197506-144197507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587616647	chr1:144197511-144197512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76041041	chr1:144197513-144197514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79684556	chr1:144197520-144197521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78491163	chr1:144197525-144197526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75539191	chr1:144197531-144197532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587677505	chr1:144197550-144197551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75139853	chr1:144197564-144197565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76386821	chr1:144197566-144197567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4097041	chr1:144197575-144197576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3881716	chr1:144197576-144197577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76341593	chr1:144197578-144197579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77119455	chr1:144197591-144197592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71267574	chr1:144197612-144197613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587732975	chr1:144197625-144197626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4098503	chr1:144197632-144197633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1855757	chr1:144197640-144197641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71215663	chr1:144197660-144197661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71244857	chr1:144197700-144197701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:166)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Dyslexia	22102821	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144196200-144198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:144196200-144198600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:144205600-144208000	Weak transcription	Spleen	Spleen

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