Variant report

Variant	esv10881
Chromosome Location	chr1:144093088-144095745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144094860-144095134	GM12878	blood:	n/a	n/a
2	BATF	chr1:144094411-144095211	GM12878	blood:	n/a	chr1:144094595-144094605
3	BCL11A	chr1:144094837-144095182	GM12878	blood:	n/a	chr1:144094981-144094994
4	BCL11A	chr1:144094857-144095137	GM12878	blood:	n/a	chr1:144094981-144094994
5	CTCF	chr1:144094740-144094890	HMF	breast:	n/a	n/a
6	CTCF	chr1:144094740-144094890	GM12872	blood:	n/a	n/a
7	CTCF	chr1:144094740-144094890	HRE	kidney:	n/a	n/a
8	CTCF	chr1:144094589-144095121	K562	blood:	n/a	n/a
9	CTCF	chr1:144094740-144094890	HepG2	liver:	n/a	n/a
10	CTCF	chr1:144094760-144094910	GM12869	blood:	n/a	n/a
11	CTCF	chr1:144094742-144094991	GM13977	blood:	n/a	n/a
12	CTCF	chr1:144094740-144094890	HEK293	kidney:	n/a	n/a
13	CTCF	chr1:144094740-144094890	GM12873	blood:	n/a	n/a
14	CTCF	chr1:144094740-144095054	A549	lung:	n/a	n/a
15	CTCF	chr1:144094620-144094910	HAc	cerebellar:	n/a	n/a
16	CTCF	chr1:144094760-144094910	GM12867	blood:	n/a	n/a
17	CTCF	chr1:144094749-144094985	GM10266	blood:	n/a	n/a
18	CTCF	chr1:144094740-144094890	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr1:144094740-144094890	AG10803	skin:	n/a	n/a
20	CTCF	chr1:144094810-144094956	ProgFib	skin:	n/a	n/a
21	CTCF	chr1:144094748-144094976	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr1:144094899-144094940	GM12892	blood:	n/a	n/a
23	CTCF	chr1:144094740-144094890	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr1:144094740-144094890	NHEK	skin:	n/a	n/a
25	CTCF	chr1:144094792-144094925	LNCaP	prostate:	n/a	n/a
26	CTCF	chr1:144094740-144094890	BJ	skin:	n/a	n/a
27	CTCF	chr1:144094813-144094948	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr1:144094827-144094937	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr1:144094740-144094890	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:144094740-144094890	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr1:144094871-144094951	GM19238	blood:	n/a	n/a
32	CTCF	chr1:144094760-144094910	AG04450	lung:	n/a	n/a
33	CTCF	chr1:144094740-144094890	HPF	lung:	n/a	n/a
34	CTCF	chr1:144094855-144094947	GM19239	blood:	n/a	n/a
35	CTCF	chr1:144094793-144094981	Medullo	brain:	n/a	n/a
36	CTCF	chr1:144094740-144094890	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr1:144094740-144094890	AG09319	gingival:	n/a	n/a
38	CTCF	chr1:144094476-144094609	GM13977	blood:	n/a	n/a
39	CTCF	chr1:144094845-144094954	Fibrobl	skin:	n/a	n/a
40	CTCF	chr1:144094740-144094890	AG04449	skin:	n/a	n/a
41	CTCF	chr1:144094740-144094890	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr1:144094780-144094930	HVMF	connective:	n/a	n/a
43	CTCF	chr1:144094760-144094910	HMEC	breast:	n/a	n/a
44	CTCF	chr1:144094685-144094687	GM10248	blood:	n/a	n/a
45	CTCF	chr1:144094740-144094890	K562	blood:	n/a	n/a
46	CTCF	chr1:144094760-144094910	GM12870	blood:	n/a	n/a
47	CTCF	chr1:144094740-144094890	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:144094740-144094890	GM12875	blood:	n/a	n/a
49	CTCF	chr1:144094939-144094942	Lung_OC	lung:	n/a	n/a
50	CTCF	chr1:144094755-144094973	LNCaP	prostate:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM72D-1	chr1:144093413-144093719	NONHSAT005766
2	lnc-FAM72D-1	chr1:144093413-144093754	NONHSAT005764

No data

Variant related genes	Relation type
ENSG00000224363	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201868573	chr1:144093133-144093134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587698968	chr1:144093381-144093382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200734608	chr1:144093434-144093435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs587681419	chr1:144093518-144093519	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs376759680	chr1:144093679-144093680	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs587738807	chr1:144093752-144093753	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs587632838	chr1:144093786-144093787	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117862682	chr1:144093812-144093813	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201414133	chr1:144093818-144093819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs587740339	chr1:144093840-144093841	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199837323	chr1:144094304-144094305	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs587621719	chr1:144094374-144094375	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs587693314	chr1:144094552-144094553	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201149096	chr1:144094581-144094582	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs61801864	chr1:144094594-144094595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs587772368	chr1:144094653-144094654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs587635879	chr1:144094655-144094656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs587715574	chr1:144094703-144094704	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs587771921	chr1:144094722-144094723	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200123132	chr1:144094787-144094788	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201014404	chr1:144094792-144094793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs587672749	chr1:144094814-144094815	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs587704425	chr1:144094889-144094890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs587754888	chr1:144094896-144094897	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs587638117	chr1:144094900-144094901	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs148621073	chr1:144094915-144094916	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs199983272	chr1:144094963-144094964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs587711664	chr1:144094988-144094989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs587603481	chr1:144094991-144094992	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587659084	chr1:144095032-144095033	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs587714546	chr1:144095033-144095034	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369904116	chr1:144095061-144095062	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200919451	chr1:144095109-144095110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs587609800	chr1:144095172-144095173	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199620252	chr1:144095180-144095181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs587657689	chr1:144095202-144095203	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs587745648	chr1:144095292-144095293	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs587598501	chr1:144095314-144095315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587662725	chr1:144095316-144095317	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367790379	chr1:144095357-144095358	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs587762426	chr1:144095409-144095410	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs587637816	chr1:144095514-144095515	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371857081	chr1:144095590-144095591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs587717520	chr1:144095694-144095695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587748209	chr1:144095699-144095700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144057600-144096800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:144086400-144093200	Weak transcription	HUVEC	blood vessel
3	chr1:144086400-144094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:144088800-144096800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:144089000-144093200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:144091600-144093400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:144093200-144093600	Enhancers	HUVEC	blood vessel
8	chr1:144093200-144093800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:144093200-144094000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:144093400-144095000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:144093600-144094600	Weak transcription	HUVEC	blood vessel
12	chr1:144094000-144094400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:144094400-144095600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:144094600-144094800	Enhancers	HUVEC	blood vessel
15	chr1:144094600-144095000	Enhancers	Primary B cells from peripheral blood	blood

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