Variant report

Variant	esv1827528
Chromosome Location	chr1:152274993-152286236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:152275194-152275393	A549	lung:	n/a	chr1:152275271-152275282
2	CEBPB	chr1:152275020-152275363	HepG2	liver:	n/a	chr1:152275271-152275282
3	CTCF	chr1:152282898-152282921	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr1:152278444-152278513	LNCaP	prostate:	n/a	n/a
5	CTCF	chr1:152284487-152284530	Pancreas_OC	pancreas:	n/a	n/a
6	PAX5	chr1:152278174-152278514	GM12878	blood:	n/a	n/a
7	PAX5	chr1:152279146-152279486	GM12878	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152284601-152284651	K562	blood:	n/a
2	chr1:152284601-152284651	K562	blood:	n/a
3	chr1:152285877-152285927	ECC-1	luminal epithelium:	n/a
4	chr1:152284601-152284651	MCF-7	breast:	n/a
5	chr1:152285877-152285927	Hela-S3	cervix:	n/a
6	chr1:152285911-152285961	ProgFib	skin:	n/a
7	chr1:152284827-152284877	ECC-1	luminal epithelium:	n/a
8	chr1:152285877-152285927	NHBE	bronchial:	n/a
9	chr1:152285911-152285961	CMK	blood:	n/a
10	chr1:152285877-152285927	NHDF-neo	bronchial:	n/a
11	chr1:152284827-152284877	SK-N-SH_RA	brain:	n/a
12	chr1:152285877-152285927	HAEpiC	amniotic membrane:	n/a
13	chr1:152285911-152285961	SK-N-SH	brain:	n/a
14	chr1:152285911-152285961	HCT-116	colon:	n/a
15	chr1:152284601-152284651	SAEC	small airway:	n/a
16	chr1:152285877-152285927	PFSK-1	brain:	n/a
17	chr1:152285877-152285927	H1-hESC	embryonic stem cell:	embryo
18	chr1:152284827-152284877	NT2-D1	testis:	n/a
19	chr1:152284601-152284651	HEK293	kidney:	embryo
20	chr1:152280068-152280118	SK-N-SH_RA	brain:	n/a
21	chr1:152285877-152285927	HUVEC	blood vessel:	n/a
22	chr1:152280068-152280118	AG10803	skin:	n/a
23	chr1:152280068-152280118	PFSK-1	brain:	n/a
24	chr1:152280068-152280118	T-47D	breast:	n/a
25	chr1:152280068-152280118	NHDF-neo	bronchial:	n/a
26	chr1:152280068-152280118	HepG2	liver:	n/a
27	chr1:152285877-152285927	BJ	skin:	n/a
28	chr1:152280068-152280118	GM12892	blood:	n/a
29	chr1:152285877-152285927	HIPEpiC	eye:	n/a
30	chr1:152280068-152280118	HUVEC	blood vessel:	n/a
31	chr1:152284601-152284651	HMEC	breast:	n/a
32	chr1:152285911-152285961	NHBE	bronchial:	n/a
33	chr1:152284601-152284651	NB4	blood:	n/a
34	chr1:152280068-152280118	HIPEpiC	eye:	n/a
35	chr1:152284827-152284877	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:152280068-152280118	HRE	kidney:	n/a
37	chr1:152284827-152284877	Caco-2	colon:	n/a
38	chr1:152285877-152285927	IMR90	lung:	fetal
39	chr1:152284601-152284651	SK-N-MC	brain:	n/a
40	chr1:152285911-152285961	BJ	skin:	n/a
41	chr1:152284601-152284651	GM06990	blood:	n/a
42	chr1:152285911-152285961	Caco-2	colon:	n/a
43	chr1:152284827-152284877	BE2_C	brain:	n/a
44	chr1:152285911-152285961	AG09319	gingival:	n/a
45	chr1:152280068-152280118	HL-60	blood:	n/a
46	chr1:152284601-152284651	HRE	kidney:	n/a
47	chr1:152285877-152285927	MCF10A-Er-Src	breast:	n/a
48	chr1:152284601-152284651	NHDF-neo	bronchial:	n/a
49	chr1:152280068-152280118	HAEpiC	amniotic membrane:	n/a
50	chr1:152280068-152280118	NH-A	brain:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-2	chr1:152285935-152286514	NONHSAT006479
2	lnc-LCE5A-2	chr1:152285935-152286514	ENSG00000237975
3	lnc-FLG2-2	chr1:152286184-152286725	NONHSAT006481
4	lnc-LCE5A-2	chr1:152285935-152286514	NONHSAT006480

No data

Variant related genes	Relation type
FLG-AS1	TF binding region
FLG-AS1	CpG island
C10orf4	miRNA target sites

Extended variants
information (count: 1760 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1760 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12071181	chr1:152274997-152274998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559885364	chr1:152275036-152275037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528337607	chr1:152275066-152275067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192763458	chr1:152275073-152275074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548067706	chr1:152275115-152275116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568369942	chr1:152275126-152275127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367608187	chr1:152275139-152275140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536917379	chr1:152275144-152275145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371451436	chr1:152275153-152275154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139645876	chr1:152275177-152275178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150630644	chr1:152275224-152275225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144304274	chr1:152275229-152275230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184470276	chr1:152275230-152275231	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369153121	chr1:152275242-152275243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148776256	chr1:152275257-152275258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs117440780	chr1:152275272-152275273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76330665	chr1:152275273-152275274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150330138	chr1:152275276-152275277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561151352	chr1:152275278-152275279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552696097	chr1:152275294-152275295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146466242	chr1:152275298-152275299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370295034	chr1:152275305-152275306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372573825	chr1:152275306-152275307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140880942	chr1:152275344-152275345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200277568	chr1:152275357-152275358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149094882	chr1:152275372-152275373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141947562	chr1:152275373-152275374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377051179	chr1:152275383-152275384	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370643935	chr1:152275394-152275395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375411998	chr1:152275395-152275396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146290399	chr1:152275403-152275404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs368158669	chr1:152275404-152275405	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150644405	chr1:152275410-152275411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201092922	chr1:152275421-152275422	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577361459	chr1:152275423-152275424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375423337	chr1:152275436-152275437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs3814299	chr1:152275453-152275454	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376130842	chr1:152275473-152275474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144643375	chr1:152275482-152275483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145667241	chr1:152275490-152275491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141145933	chr1:152275523-152275524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542027417	chr1:152275537-152275538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs561694923	chr1:152275538-152275539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs113077448	chr1:152275540-152275541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200826810	chr1:152275546-152275547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs3126065	chr1:152275559-152275560	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372870832	chr1:152275561-152275562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140369299	chr1:152275568-152275569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs202149956	chr1:152275579-152275580	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530367801	chr1:152275597-152275598	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Atopic	22158606	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152264200-152275400	Weak transcription	Ovary	ovary
2	chr1:152273800-152275400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:152274200-152279600	Weak transcription	Fetal Lung	lung
5	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:152274400-152276600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:152275200-152276000	ZNF genes & repeats	Aorta	Aorta
8	chr1:152275400-152275600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
9	chr1:152275400-152277000	ZNF genes & repeats	Ovary	ovary
10	chr1:152275400-152277200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:152275600-152276000	ZNF genes & repeats	Left Ventricle	heart
12	chr1:152275600-152276000	ZNF genes & repeats	Pancreas	Pancrea
13	chr1:152275600-152276600	Strong transcription	Stomach Smooth Muscle	stomach
14	chr1:152276000-152279600	Weak transcription	Pancreas	Pancrea
15	chr1:152276000-152279800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:152276600-152277000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:152276800-152277600	ZNF genes & repeats	Esophagus	oesophagus
19	chr1:152277000-152277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:152277000-152279600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:152277200-152277600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:152277200-152277600	Active TSS	Brain Substantia Nigra	brain
23	chr1:152277400-152277600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr1:152277600-152279600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:152277600-152280600	Weak transcription	Esophagus	oesophagus
26	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
29	chr1:152278800-152281800	Weak transcription	Thymus	Thymus
30	chr1:152279600-152280000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:152279600-152280200	ZNF genes & repeats	Pancreas	Pancrea
32	chr1:152279600-152283000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr1:152279600-152283400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:152279800-152280000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr1:152279800-152284200	ZNF genes & repeats	Fetal Stomach	stomach
36	chr1:152280000-152280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:152280000-152281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:152280600-152281600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:152280600-152281600	ZNF genes & repeats	Esophagus	oesophagus
41	chr1:152280600-152282600	ZNF genes & repeats	Aorta	Aorta
42	chr1:152280600-152283200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:152280600-152283800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:152280600-152284000	ZNF genes & repeats	Fetal Brain Female	brain
45	chr1:152281200-152281600	ZNF genes & repeats	Gastric	stomach
46	chr1:152281200-152283000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
47	chr1:152281400-152283000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:152281600-152283000	ZNF genes & repeats	Ovary	ovary
49	chr1:152281600-152284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:152282200-152284200	ZNF genes & repeats	Adipose Nuclei	Adipose

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