Variant report

Variant	esv3394198
Chromosome Location	chr1:152279928-152282526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152280068-152280118	MCF10A-Er-Src	breast:	n/a
2	chr1:152280068-152280118	HCM	heart:	n/a
3	chr1:152280068-152280118	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:152280068-152280118	IMR90	lung:	fetal
5	chr1:152280068-152280118	HepG2	liver:	n/a
6	chr1:152280068-152280118	HL-60	blood:	n/a
7	chr1:152280068-152280118	HEEpiC	esophagus:	n/a
8	chr1:152280068-152280118	SKMC	muscle:	n/a
9	chr1:152280068-152280118	CMK	blood:	n/a
10	chr1:152280068-152280118	NHDF-neo	bronchial:	n/a
11	chr1:152280068-152280118	NT2-D1	testis:	n/a
12	chr1:152280068-152280118	T-47D	breast:	n/a
13	chr1:152280068-152280118	HRE	kidney:	n/a
14	chr1:152280068-152280118	NB4	blood:	n/a
15	chr1:152280068-152280118	A549	lung:	n/a
16	chr1:152280068-152280118	ovcar-3	ovarian:	n/a
17	chr1:152280068-152280118	ProgFib	skin:	n/a
18	chr1:152280068-152280118	GM12892	blood:	n/a
19	chr1:152280068-152280118	GM12891	blood:	n/a
20	chr1:152280068-152280118	GM06990	blood:	n/a
21	chr1:152280068-152280118	Caco-2	colon:	n/a
22	chr1:152280068-152280118	AG04449	skin:	fetal
23	chr1:152280068-152280118	AG09309	skin:	n/a
24	chr1:152280068-152280118	H1-hESC	embryonic stem cell:	embryo
25	chr1:152280068-152280118	Hela-S3	cervix:	n/a
26	chr1:152280068-152280118	SK-N-SH	brain:	n/a
27	chr1:152280068-152280118	MCF-7	breast:	n/a
28	chr1:152280068-152280118	LNCaP	prostate:	n/a
29	chr1:152280068-152280118	RPTEC	kidney:	n/a
30	chr1:152280068-152280118	Jurkat	blood:	n/a
31	chr1:152280068-152280118	GM19239	blood:	n/a
32	chr1:152280068-152280118	AG04450	lung:	fetal
33	chr1:152280068-152280118	BE2_C	brain:	n/a
34	chr1:152280068-152280118	PFSK-1	brain:	n/a
35	chr1:152280068-152280118	SK-N-SH_RA	brain:	n/a
36	chr1:152280068-152280118	K562	blood:	n/a
37	chr1:152280068-152280118	PANC-1	pancreas:	n/a
38	chr1:152280068-152280118	SAEC	small airway:	n/a
39	chr1:152280068-152280118	HIPEpiC	eye:	n/a
40	chr1:152280068-152280118	PrEC	prostate:	n/a
41	chr1:152280068-152280118	GM12878	blood:	n/a
42	chr1:152280068-152280118	HCPEpiC	choroid plexus:	n/a
43	chr1:152280068-152280118	HNPCEpiC	eye:	n/a
44	chr1:152280068-152280118	U87	brain:	n/a
45	chr1:152280068-152280118	Hepatocyte	liver:	n/a
46	chr1:152280068-152280118	HCT-116	colon:	n/a
47	chr1:152280068-152280118	HAEpiC	amniotic membrane:	n/a
48	chr1:152280068-152280118	HCF	heart:	n/a
49	chr1:152280068-152280118	SK-N-MC	brain:	n/a
50	chr1:152280068-152280118	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
FLG-AS1	CpG island

Extended variants
information (count: 444 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144157090	chr1:152279928-152279929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77498426	chr1:152279933-152279934	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140845519	chr1:152279948-152279949	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528687560	chr1:152279951-152279952	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200926982	chr1:152279952-152279953	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146768750	chr1:152279962-152279963	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71625199	chr1:152279964-152279965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149160509	chr1:152279965-152279966	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369666445	chr1:152279973-152279974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113188294	chr1:152279975-152279976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543401482	chr1:152279989-152279990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112771575	chr1:152279991-152279992	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144122917	chr1:152280000-152280001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553191250	chr1:152280001-152280002	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200352488	chr1:152280002-152280003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372505569	chr1:152280007-152280008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139059162	chr1:152280022-152280023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138726443	chr1:152280023-152280024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs71625200	chr1:152280032-152280033	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs200938831	chr1:152280033-152280034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555272052	chr1:152280043-152280044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs575169730	chr1:152280052-152280053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370998247	chr1:152280053-152280054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543821965	chr1:152280072-152280073	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564069531	chr1:152280073-152280074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140376327	chr1:152280074-152280075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs146540190	chr1:152280080-152280081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs373465536	chr1:152280082-152280083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150216268	chr1:152280083-152280084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200015722	chr1:152280084-152280085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs148955202	chr1:152280088-152280089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370240442	chr1:152280091-152280092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374588791	chr1:152280098-152280099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138488969	chr1:152280110-152280111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528722713	chr1:152280113-152280114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201701803	chr1:152280133-152280134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141651911	chr1:152280134-152280135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs370848342	chr1:152280139-152280140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568784696	chr1:152280142-152280143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531187134	chr1:152280145-152280146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550700081	chr1:152280147-152280148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs570868709	chr1:152280148-152280149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375657029	chr1:152280151-152280152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368385023	chr1:152280154-152280155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372607458	chr1:152280155-152280156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553468192	chr1:152280161-152280162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200642470	chr1:152280164-152280165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71625201	chr1:152280170-152280171	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535289422	chr1:152280173-152280174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555110262	chr1:152280185-152280186	Weak 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152274000-152283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152274200-152281400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:152276600-152280400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:152277600-152280600	Weak transcription	Esophagus	oesophagus
5	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
8	chr1:152278800-152281800	Weak transcription	Thymus	Thymus
9	chr1:152279600-152280000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:152279600-152280200	ZNF genes & repeats	Pancreas	Pancrea
11	chr1:152279600-152283000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr1:152279600-152283400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:152279800-152280000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr1:152279800-152284200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr1:152280000-152280600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:152280000-152281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:152280600-152281600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:152280600-152281600	ZNF genes & repeats	Esophagus	oesophagus
20	chr1:152280600-152282600	ZNF genes & repeats	Aorta	Aorta
21	chr1:152280600-152283200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:152280600-152283800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:152280600-152284000	ZNF genes & repeats	Fetal Brain Female	brain
24	chr1:152281200-152281600	ZNF genes & repeats	Gastric	stomach
25	chr1:152281200-152283000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
26	chr1:152281400-152283000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:152281600-152283000	ZNF genes & repeats	Ovary	ovary
28	chr1:152281600-152284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:152282200-152284200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr1:152282200-152284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:152282200-152285000	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr1:152282400-152282800	Weak transcription	Fetal Kidney	kidney
33	chr1:152282400-152283000	ZNF genes & repeats	Fetal Lung	lung
34	chr1:152282400-152283200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links