Variant report

Variant	esv3333165
Chromosome Location	chr1:144337095-144340593
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	BATF	chr1:144339109-144341237	GM12878	blood:	n/a	n/a
2	BATF	chr1:144339194-144339724	GM12878	blood:	n/a	n/a
3	BATF	chr1:144340377-144340881	GM12878	blood:	n/a	n/a
4	BATF	chr1:144338647-144338871	GM12878	blood:	n/a	n/a
5	BATF	chr1:144336769-144337135	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:144339111-144341319	GM12878	blood:	n/a	chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456
7	BCL11A	chr1:144337966-144338252	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:144338573-144342305	GM12878	blood:	n/a	chr1:144341848-144341857 chr1:144341113-144341126 chr1:144340129-144340138 chr1:144341106-144341119 chr1:144339852-144339861 chr1:144340130-144340143 chr1:144341165-144341174 chr1:144340443-144340456 chr1:144342124-144342131
9	BHLHE40	chr1:144340285-144340772	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:144340095-144340269	K562	blood:	n/a	n/a
11	CEBPB	chr1:144339106-144340157	GM12878	blood:	n/a	n/a
12	CEBPB	chr1:144339236-144339678	K562	blood:	n/a	n/a
13	CEBPB	chr1:144339949-144340293	K562	blood:	n/a	n/a
14	CEBPB	chr1:144339988-144340250	K562	blood:	n/a	n/a
15	CTCF	chr1:144339741-144339818	GM10266	blood:	n/a	chr1:144339785-144339798
16	CTCF	chr1:144340360-144340492	GM10248	blood:	n/a	n/a
17	CTCF	chr1:144340339-144340425	GM10266	blood:	n/a	chr1:144340358-144340371
18	CTCF	chr1:144340232-144340316	GM10248	blood:	n/a	n/a
19	CTCF	chr1:144339359-144339385	GM10266	blood:	n/a	n/a
20	CTCF	chr1:144340365-144340397	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr1:144339924-144339983	GM10266	blood:	n/a	n/a
22	CTCF	chr1:144340391-144340446	Spleen_OC	spleen:	n/a	n/a
23	E2F6	chr1:144340070-144340234	K562	blood:	n/a	chr1:144340128-144340138
24	EBF1	chr1:144339092-144341399	GM12878	blood:	n/a	chr1:144339769-144339778
25	EBF1	chr1:144338073-144338329	GM12878	blood:	n/a	n/a
26	EBF1	chr1:144336835-144337144	GM12878	blood:	n/a	n/a
27	EBF1	chr1:144337654-144337859	GM12878	blood:	n/a	n/a
28	EBF1	chr1:144338856-144341341	GM12878	blood:	n/a	chr1:144339769-144339778
29	EP300	chr1:144338955-144342279	GM12878	blood:	n/a	chr1:144341848-144341862 chr1:144339529-144339538 chr1:144340174-144340190 chr1:144339528-144339542 chr1:144341110-144341119 chr1:144341645-144341654 chr1:144341117-144341133 chr1:144341108-144341124 chr1:144340128-144340137
30	EP300	chr1:144339219-144340092	GM12878	blood:	n/a	chr1:144339529-144339538 chr1:144339528-144339542
31	EP300	chr1:144340284-144340943	GM12878	blood:	n/a	n/a
32	EP300	chr1:144336861-144337141	GM12878	blood:	n/a	n/a
33	FOSL2	chr1:144340510-144340848	HepG2	liver:	n/a	n/a
34	FOSL2	chr1:144339051-144339767	HepG2	liver:	n/a	chr1:144339062-144339074 chr1:144339171-144339179
35	FOSL2	chr1:144339773-144340422	HepG2	liver:	n/a	n/a
36	FOSL2	chr1:144338917-144341422	HepG2	liver:	n/a	chr1:144339062-144339074 chr1:144339171-144339179 chr1:144341149-144341158
37	FOXA1	chr1:144338960-144340066	HepG2	liver:	n/a	n/a
38	FOXA1	chr1:144338410-144338814	HepG2	liver:	n/a	n/a
39	FOXA1	chr1:144340294-144340797	HepG2	liver:	n/a	n/a
40	FOXM1	chr1:144339223-144340406	GM12878	blood:	n/a	n/a
41	FOXM1	chr1:144339134-144340072	GM12878	blood:	n/a	n/a
42	GABPA	chr1:144340460-144340603	Hela-S3	cervix:	n/a	chr1:144340485-144340494 chr1:144340487-144340496
43	GABPA	chr1:144339389-144339617	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr1:144339182-144340748	Hela-S3	cervix:	n/a	chr1:144340485-144340494 chr1:144340487-144340496
45	GABPA	chr1:144339761-144339944	Hela-S3	cervix:	n/a	n/a
46	GATA2	chr1:144337695-144338449	K562	blood:	n/a	n/a
47	GATA2	chr1:144339815-144340066	K562	blood:	n/a	n/a
48	GATA2	chr1:144338538-144339738	K562	blood:	n/a	chr1:144339268-144339276 chr1:144339530-144339540
49	GATA2	chr1:144340354-144341281	K562	blood:	n/a	n/a
50	HEY1	chr1:144338823-144341430	K562	blood:	n/a	chr1:144341114-144341129 chr1:144339879-144339894

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144340251-144340301	HRPEpiC	eye:	n/a
2	chr1:144340161-144340211	ProgFib	skin:	n/a
3	chr1:144340161-144340211	SK-N-SH	brain:	n/a
4	chr1:144340251-144340301	NHBE	bronchial:	n/a
5	chr1:144340251-144340301	MCF-7	breast:	n/a
6	chr1:144340161-144340211	HRPEpiC	eye:	n/a
7	chr1:144340251-144340301	HAEpiC	amniotic membrane:	n/a
8	chr1:144340161-144340211	BE2_C	brain:	n/a
9	chr1:144340251-144340301	SAEC	small airway:	n/a
10	chr1:144340161-144340211	HRCEpiC	kidney:	n/a
11	chr1:144340251-144340301	HCF	heart:	n/a
12	chr1:144340103-144340153	SAEC	small airway:	n/a
13	chr1:144340103-144340153	PrEC	prostate:	n/a
14	chr1:144340103-144340153	NT2-D1	testis:	n/a
15	chr1:144340161-144340211	HepG2	liver:	n/a
16	chr1:144340103-144340153	SK-N-MC	brain:	n/a
17	chr1:144340251-144340301	AG04449	skin:	fetal
18	chr1:144340251-144340301	NH-A	brain:	n/a
19	chr1:144340161-144340211	SAEC	small airway:	n/a
20	chr1:144340251-144340301	RPTEC	kidney:	n/a
21	chr1:144340161-144340211	HCM	heart:	n/a
22	chr1:144340161-144340211	U87	brain:	n/a
23	chr1:144340161-144340211	RPTEC	kidney:	n/a
24	chr1:144340251-144340301	HIPEpiC	eye:	n/a
25	chr1:144340103-144340153	NHBE	bronchial:	n/a
26	chr1:144340161-144340211	NB4	blood:	n/a
27	chr1:144340161-144340211	GM12878	blood:	n/a
28	chr1:144340251-144340301	Jurkat	blood:	n/a
29	chr1:144340251-144340301	SK-N-SH_RA	brain:	n/a
30	chr1:144340251-144340301	HepG2	liver:	n/a
31	chr1:144340251-144340301	SKMC	muscle:	n/a
32	chr1:144340251-144340301	HCPEpiC	choroid plexus:	n/a
33	chr1:144340103-144340153	Hepatocyte	liver:	n/a
34	chr1:144340251-144340301	AoSMC	blood vessel:	n/a
35	chr1:144340251-144340301	BJ	skin:	n/a
36	chr1:144340161-144340211	MCF10A-Er-Src	breast:	n/a
37	chr1:144340251-144340301	MCF10A-Er-Src	breast:	n/a
38	chr1:144340251-144340301	SK-N-MC	brain:	n/a
39	chr1:144340161-144340211	IMR90	lung:	fetal
40	chr1:144340161-144340211	NH-A	brain:	n/a
41	chr1:144340161-144340211	GM06990	blood:	n/a
42	chr1:144340161-144340211	BJ	skin:	n/a
43	chr1:144340251-144340301	ovcar-3	ovarian:	n/a
44	chr1:144340103-144340153	HL-60	blood:	n/a
45	chr1:144340103-144340153	HIPEpiC	eye:	n/a
46	chr1:144340161-144340211	AG09319	gingival:	n/a
47	chr1:144340251-144340301	PANC-1	pancreas:	n/a
48	chr1:144340161-144340211	ovcar-3	ovarian:	n/a
49	chr1:144340251-144340301	GM19239	blood:	n/a
50	chr1:144340251-144340301	AG10803	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
2	lnc-PPIAL4B-1	chr1:144340526-144340754	ENSG00000235398
3	lnc-PPIAL4B-1	chr1:144340526-144340671	ENSG00000235398
4	lnc-PPIAL4B-1	chr1:144339564-144339618	ENSG00000235398
5	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398
6	lnc-PPIAL4B-1	chr1:144340526-144340736	ENSG00000235398
7	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005781
8	lnc-PPIAL4B-1	chr1:144340526-144340773	NONHSAT005780
9	lnc-PPIAL4B-1	chr1:144340526-144340623	ENSG00000235398.4
10	lnc-PPIAL4B-1	chr1:144340526-144340593	ENSG00000235398
11	lnc-PPIAL4B-1	chr1:144340526-144340623	NONHSAT005782
12	lnc-PPIAL4B-1	chr1:144340526-144340773	NR_109754
13	lnc-PPIAL4B-1	chr1:144340526-144340623	NR_024584

Variant related genes	Relation type
ENSG00000231360	TF binding region
LINC00623	TF binding region
ENSG00000231360	CpG island
LINC00623	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 167 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201484278	chr1:144337466-144337467	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs587743208	chr1:144337567-144337568	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs587614002	chr1:144337594-144337595	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs61804356	chr1:144337818-144337819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs587693897	chr1:144337988-144337989	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs587625787	chr1:144337993-144337994	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs111866509	chr1:144337999-144338000	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs201138341	chr1:144338380-144338381	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs201690167	chr1:144338584-144338585	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs539340	chr1:144338703-144338704	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs9441073	chr1:144339102-144339103	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs542980	chr1:144339105-144339106	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs9440986	chr1:144339159-144339160	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs9440985	chr1:144339186-144339187	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs11485949	chr1:144339361-144339362	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs199651624	chr1:144339401-144339402	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs587685832	chr1:144339850-144339851	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368018584	chr1:144340115-144340116	Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs111624514	chr1:144340197-144340198	Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs28431188	chr1:144340472-144340473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:167)

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
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
Schizophrenia	19805367	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144339800-144340400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr1:144339800-144340400	Active TSS	Fetal Brain Female	brain
3	chr1:144339800-144340400	Active TSS	HMEC	breast
4	chr1:144340000-144340400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:144340000-144340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:144340000-144340400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:144340000-144340400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:144340000-144340400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:144340000-144340400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:144340000-144340400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:144340000-144340400	Active TSS	Brain Germinal Matrix	brain
13	chr1:144340000-144340400	Active TSS	Placenta	Placenta
14	chr1:144340000-144340400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:144340000-144340400	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:144340000-144340400	Active TSS	Stomach Smooth Muscle	stomach

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