Variant report

Variant	esv16911
Chromosome Location	chr1:146471863-146485521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:146477569-146477873	GM12878	blood:	n/a	chr1:146477733-146477744
2	BATF	chr1:146477562-146477765	GM12878	blood:	n/a	chr1:146477733-146477744
3	BCL11A	chr1:146477340-146477584	GM12878	blood:	n/a	n/a
4	CBX3	chr1:146477504-146478004	K562	blood:	n/a	n/a
5	CEBPB	chr1:146476585-146476778	HepG2	liver:	n/a	n/a
6	CTCF	chr1:146475109-146475212	LNCaP	prostate:	n/a	n/a
7	CTCF	chr1:146473920-146474070	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:146473880-146474030	AG10803	skin:	n/a	n/a
9	CTCF	chr1:146474180-146474330	HPF	lung:	n/a	n/a
10	CTCF	chr1:146478680-146478830	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr1:146473880-146474030	BJ	skin:	n/a	n/a
12	CTCF	chr1:146473920-146474070	HMF	breast:	n/a	n/a
13	CTCF	chr1:146473880-146474030	MCF-7	breast:	n/a	n/a
14	CTCF	chr1:146475139-146475158	GM12878	blood:	n/a	n/a
15	CTCF	chr1:146473920-146474070	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr1:146473880-146474030	HCM	heart:	n/a	n/a
17	CTCF	chr1:146473900-146474050	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr1:146475080-146475230	HMEC	breast:	n/a	n/a
19	CTCF	chr1:146475146-146475204	LNCaP	prostate:	n/a	n/a
20	CTCF	chr1:146474000-146474150	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr1:146475380-146475530	GM12873	blood:	n/a	n/a
22	CTCF	chr1:146473920-146474070	HPF	lung:	n/a	n/a
23	CTCF	chr1:146474200-146474350	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:146473800-146473950	HFF	foreskin:	n/a	n/a
25	CTCF	chr1:146475020-146475170	GM12869	blood:	n/a	n/a
26	EP300	chr1:146474635-146474902	GM12878	blood:	n/a	n/a
27	EP300	chr1:146475550-146475926	GM12878	blood:	n/a	chr1:146475600-146475614
28	FOSL2	chr1:146476946-146477207	HepG2	liver:	n/a	n/a
29	FOSL2	chr1:146475987-146476347	HepG2	liver:	n/a	n/a
30	FOXA1	chr1:146472969-146473383	HepG2	liver:	n/a	n/a
31	GABPA	chr1:146475551-146475937	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr1:146474867-146474991	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr1:146475950-146476180	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr1:146473044-146473254	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr1:146476557-146476688	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr1:146475163-146475526	Hela-S3	cervix:	n/a	n/a
37	HEY1	chr1:146475667-146475885	K562	blood:	n/a	n/a
38	IRF4	chr1:146477635-146477925	GM12878	blood:	n/a	n/a
39	JUND	chr1:146474889-146475120	HepG2	liver:	n/a	n/a
40	PAX5	chr1:146472580-146473177	GM12878	blood:	n/a	n/a
41	PAX5	chr1:146475675-146475846	GM12878	blood:	n/a	n/a
42	PAX5	chr1:146474778-146475089	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:146478327-146478525	A549	lung:	n/a	n/a
44	POLR2A	chr1:146475478-146476068	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:146478295-146478301	A549	lung:	n/a	n/a
46	POU2F2	chr1:146477001-146477336	GM12878	blood:	n/a	n/a
47	POU2F2	chr1:146474602-146475167	GM12878	blood:	n/a	n/a
48	POU2F2	chr1:146475602-146476122	GM12878	blood:	n/a	n/a
49	SIX5	chr1:146475227-146475495	K562	blood:	n/a	n/a
50	SIX5	chr1:146475138-146475397	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAB2-2	chr1:146473988-146474136	XLOC_001001
2	lnc-PRKAB2-2	chr1:146473499-146473891	XLOC_001001
3	lnc-PRKAB2-2	chr1:146474456-146474743	XLOC_001001
4	lnc-PRKAB2-2	chr1:146475140-146475177	ENSG00000234225.2
5	lnc-PRKAB2-2	chr1:146475140-146475178	XLOC_001001
6	lnc-PRKAB2-2	chr1:146474456-146474750	XLOC_001001
7	lnc-PRKAB2-2	chr1:146474456-146474743	ENSG00000234225.2
8	lnc-PRKAB2-2	chr1:146473988-146474136	ENSG00000234225.2
9	lnc-PRKAB2-2	chr1:146473841-146473891	ENSG00000234225.2
10	lnc-PRKAB2-2	chr1:146473735-146473891	XLOC_001001
11	lnc-PRKAB2-2	chr1:146474456-146474750	ENSG00000234225.2
12	lnc-PRKAB2-2	chr1:146473490-146473891	ENSG00000234225.2

No data

Variant related genes	Relation type
ENSG00000234225	TF binding region

Extended variants
information (count: 466 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375696976	chr1:146471888-146471889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587773231	chr1:146471923-146471924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77918836	chr1:146471924-146471925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9326554	chr1:146471932-146471933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138975680	chr1:146471945-146471946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376080414	chr1:146471946-146471947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67168403	chr1:146471954-146471955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200959171	chr1:146471976-146471977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4086316	chr1:146471997-146471998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4111460	chr1:146472016-146472017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587701280	chr1:146472023-146472024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4086317	chr1:146472048-146472049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9437959	chr1:146472070-146472071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9438005	chr1:146472071-146472072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587756674	chr1:146472102-146472103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371269357	chr1:146472115-146472116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587711867	chr1:146472127-146472128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587596328	chr1:146472156-146472157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75512829	chr1:146472159-146472160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587651068	chr1:146472163-146472164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76037517	chr1:146472180-146472181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185945752	chr1:146472184-146472185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67069694	chr1:146472185-146472186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189144492	chr1:146472218-146472219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28616167	chr1:146472223-146472224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587675665	chr1:146472231-146472232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371958211	chr1:146472244-146472245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587734552	chr1:146472252-146472253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28480353	chr1:146472255-146472256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28479956	chr1:146472268-146472269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7524018	chr1:146472273-146472274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587666732	chr1:146472282-146472283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4445526	chr1:146472289-146472290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201363293	chr1:146472301-146472302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587740617	chr1:146472312-146472313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61805307	chr1:146472318-146472319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373967018	chr1:146472330-146472331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587622016	chr1:146472337-146472338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570739611	chr1:146472342-146472343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376713662	chr1:146472368-146472369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369687150	chr1:146472369-146472370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373456511	chr1:146472379-146472380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7544313	chr1:146472395-146472396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9793148	chr1:146472408-146472409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60631796	chr1:146472483-146472484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59262849	chr1:146472486-146472487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4950406	chr1:146472487-146472488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368464113	chr1:146472492-146472493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60032422	chr1:146472501-146472502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587645772	chr1:146472530-146472531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:157)

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
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
Wilms tumour	21544195	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
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
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
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146459800-146473600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:146464400-146473200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:146464600-146475000	Weak transcription	Brain Angular Gyrus	brain
4	chr1:146465400-146477000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:146471600-146472200	Enhancers	Colon Smooth Muscle	Colon
6	chr1:146472800-146473000	Enhancers	Liver	Liver
7	chr1:146473200-146476000	Weak transcription	Pancreas	Pancrea
8	chr1:146473600-146473800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:146473600-146473800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:146473600-146473800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:146473600-146473800	Enhancers	Liver	Liver
12	chr1:146473800-146475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:146475200-146475600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:146475400-146475600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:146476400-146477800	Enhancers	Primary neutrophils fromperipheralblood	blood

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