Variant report

Variant	nsv159623
Chromosome Location	chr1:152280739-152284629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152284487-152284530	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr1:152282898-152282921	Kidney_OC	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152284601-152284651	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:152284601-152284651	Hela-S3	cervix:	n/a
3	chr1:152284601-152284651	A549	lung:	n/a
4	chr1:152284601-152284651	CMK	blood:	n/a
5	chr1:152284601-152284651	RPTEC	kidney:	n/a
6	chr1:152284601-152284651	H1-hESC	embryonic stem cell:	embryo
7	chr1:152284601-152284651	AG04450	lung:	fetal
8	chr1:152284601-152284651	HCT-116	colon:	n/a
9	chr1:152284601-152284651	PANC-1	pancreas:	n/a
10	chr1:152284601-152284651	HEEpiC	esophagus:	n/a
11	chr1:152284601-152284651	HIPEpiC	eye:	n/a
12	chr1:152284601-152284651	PFSK-1	brain:	n/a
13	chr1:152284601-152284651	NT2-D1	testis:	n/a
14	chr1:152284601-152284651	NHDF-neo	bronchial:	n/a
15	chr1:152284601-152284651	HEK293	kidney:	embryo
16	chr1:152284601-152284651	AG10803	skin:	n/a
17	chr1:152284601-152284651	AG09319	gingival:	n/a
18	chr1:152284601-152284651	SK-N-SH_RA	brain:	n/a
19	chr1:152284601-152284651	HepG2	liver:	n/a
20	chr1:152284601-152284651	BE2_C	brain:	n/a
21	chr1:152284601-152284651	HMEC	breast:	n/a
22	chr1:152284601-152284651	GM06990	blood:	n/a
23	chr1:152284601-152284651	Jurkat	blood:	n/a
24	chr1:152284601-152284651	HL-60	blood:	n/a
25	chr1:152284601-152284651	Caco-2	colon:	n/a
26	chr1:152284601-152284651	MCF10A-Er-Src	breast:	n/a
27	chr1:152284601-152284651	NH-A	brain:	n/a
28	chr1:152284601-152284651	LNCaP	prostate:	n/a
29	chr1:152284601-152284651	GM12891	blood:	n/a
30	chr1:152284601-152284651	SK-N-MC	brain:	n/a
31	chr1:152284601-152284651	K562	blood:	n/a
32	chr1:152284601-152284651	NB4	blood:	n/a
33	chr1:152284601-152284651	T-47D	breast:	n/a
34	chr1:152284601-152284651	AG04449	skin:	fetal
35	chr1:152284601-152284651	HRPEpiC	eye:	n/a
36	chr1:152284601-152284651	IMR90	lung:	fetal
37	chr1:152284601-152284651	HCF	heart:	n/a
38	chr1:152284601-152284651	AoSMC	blood vessel:	n/a
39	chr1:152284601-152284651	HUVEC	blood vessel:	n/a
40	chr1:152284601-152284651	Hepatocyte	liver:	n/a
41	chr1:152284601-152284651	GM12892	blood:	n/a
42	chr1:152284601-152284651	SK-N-SH	brain:	n/a
43	chr1:152284601-152284651	NHBE	bronchial:	n/a
44	chr1:152284601-152284651	HCM	heart:	n/a
45	chr1:152284601-152284651	ProgFib	skin:	n/a
46	chr1:152284601-152284651	AG09309	skin:	n/a
47	chr1:152284601-152284651	U87	brain:	n/a
48	chr1:152284601-152284651	HRE	kidney:	n/a
49	chr1:152284601-152284651	GM19239	blood:	n/a
50	chr1:152284601-152284651	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
FLG-AS1	TF binding region
FLG-AS1	CpG island

Extended variants
information (count: 656 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80152591	chr1:152280739-152280740	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531670104	chr1:152280743-152280744	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375983095	chr1:152280750-152280751	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146891517	chr1:152280758-152280759	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2338554	chr1:152280759-152280760	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200673852	chr1:152280763-152280764	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5018225	chr1:152280778-152280779	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2184953	chr1:152280782-152280783	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547745960	chr1:152280787-152280788	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66954353	chr1:152280788-152280789	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148841847	chr1:152280795-152280796	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375300227	chr1:152280813-152280814	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567547776	chr1:152280816-152280817	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147613842	chr1:152280857-152280858	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556163508	chr1:152280862-152280863	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2184954	chr1:152280864-152280865	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538310710	chr1:152280869-152280870	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371043091	chr1:152280873-152280874	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141369067	chr1:152280891-152280892	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74129452	chr1:152280900-152280901	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150393126	chr1:152280901-152280902	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77249082	chr1:152280907-152280908	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146106776	chr1:152280910-152280911	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578140359	chr1:152280919-152280920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375986526	chr1:152280927-152280928	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78771632	chr1:152280932-152280933	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368612352	chr1:152280933-152280934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573959413	chr1:152280936-152280937	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372882396	chr1:152280937-152280938	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562691182	chr1:152280941-152280942	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200136954	chr1:152280946-152280947	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201122647	chr1:152280953-152280954	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142983961	chr1:152280963-152280964	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565362443	chr1:152280982-152280983	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200140094	chr1:152280987-152280988	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527524627	chr1:152280989-152280990	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145119684	chr1:152280995-152280996	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7512553	chr1:152281007-152281008	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7512554	chr1:152281008-152281009	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201815027	chr1:152281015-152281016	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368465259	chr1:152281016-152281017	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142067855	chr1:152281017-152281018	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549806447	chr1:152281026-152281027	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143616671	chr1:152281027-152281028	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373662277	chr1:152281033-152281034	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538619112	chr1:152281037-152281038	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7522925	chr1:152281039-152281040	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs199750855	chr1:152281043-152281044	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201317833	chr1:152281046-152281047	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72477392	chr1:152281053-152281054	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:42 , 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	chr1:152277600-152282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:152277600-152283600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
6	chr1:152278800-152281800	Weak transcription	Thymus	Thymus
7	chr1:152279600-152283000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr1:152279600-152283400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:152279800-152284200	ZNF genes & repeats	Fetal Stomach	stomach
10	chr1:152280000-152281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:152280600-152281600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:152280600-152281600	ZNF genes & repeats	Esophagus	oesophagus
14	chr1:152280600-152282600	ZNF genes & repeats	Aorta	Aorta
15	chr1:152280600-152283200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:152280600-152283800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:152280600-152284000	ZNF genes & repeats	Fetal Brain Female	brain
18	chr1:152281200-152281600	ZNF genes & repeats	Gastric	stomach
19	chr1:152281200-152283000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr1:152281400-152283000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:152281600-152283000	ZNF genes & repeats	Ovary	ovary
22	chr1:152281600-152284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:152282200-152284200	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr1:152282200-152284600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:152282200-152285000	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr1:152282400-152282800	Weak transcription	Fetal Kidney	kidney
27	chr1:152282400-152283000	ZNF genes & repeats	Fetal Lung	lung
28	chr1:152282400-152283200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr1:152283000-152284200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:152283000-152284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:152283000-152286200	Weak transcription	Ovary	ovary
32	chr1:152283200-152283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:152283200-152285400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:152283400-152283800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:152283600-152284600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:152283600-152287000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:152283800-152284800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:152284200-152284400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr1:152284200-152285400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:152284600-152285200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:152284600-152285400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:152284600-152286000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links