Variant report

Variant	nsv1001922
Chromosome Location	chr1:152756774-152768347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:428)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152758640-152758790	SAEC	small airway:	n/a	n/a
2	CTCF	chr1:152758560-152758710	NHEK	skin:	n/a	n/a
3	CTCF	chr1:152758560-152758710	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr1:152758500-152758650	GM12874	blood:	n/a	n/a
5	CTCF	chr1:152758560-152758710	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:152758532-152758657	NHEK	skin:	n/a	n/a
7	CTCF	chr1:152758480-152758630	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr1:152758560-152758710	HMEC	breast:	n/a	n/a
9	CTCF	chr1:152758620-152758770	SAEC	small airway:	n/a	n/a
10	CTCF	chr1:152758480-152758630	HMEC	breast:	n/a	n/a
11	EBF1	chr1:152757069-152757071	GM12878	blood:	n/a	n/a
12	FOS	chr1:152758506-152758818	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr1:152758533-152758807	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr1:152758570-152758718	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:152758540-152758758	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr1:152766742-152766841	HepG2	liver:	n/a	chr1:152766787-152766803 chr1:152766788-152766802 chr1:152766791-152766801 chr1:152766785-152766805 chr1:152766792-152766801 chr1:152766789-152766798 chr1:152766784-152766800
17	MAZ	chr1:152758779-152758852	HepG2	liver:	n/a	n/a
18	MYC	chr1:152758504-152758818	MCF10A-Er-Src	breast:	n/a	chr1:152758627-152758637 chr1:152758628-152758638
19	MYC	chr1:152758505-152758819	MCF10A-Er-Src	breast:	n/a	chr1:152758627-152758637 chr1:152758628-152758638
20	POLR2A	chr1:152760407-152760482	Gliobla	brain:	n/a	n/a
21	POLR2A	chr1:152758556-152758687	A549	lung:	n/a	n/a
22	POLR2A	chr1:152760649-152760777	Gliobla	brain:	n/a	n/a
23	SPI1	chr1:152760090-152760329	K562	blood:	n/a	n/a
24	STAT3	chr1:152758236-152758310	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr1:152758621-152758622	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr1:152758555-152758706	MCF10A-Er-Src	breast:	n/a	n/a
27	ZC3H11A	chr1:152763084-152763093	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152760341-152760391	SAEC	small airway:	n/a
2	chr1:152760341-152760391	SAEC	small airway:	n/a
3	chr1:152758632-152758682	IMR90	lung:	fetal
4	chr1:152768267-152768317	HL-60	blood:	n/a
5	chr1:152759772-152759822	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:152757464-152757514	SK-N-MC	brain:	n/a
7	chr1:152760341-152760391	GM12892	blood:	n/a
8	chr1:152757464-152757514	RPTEC	kidney:	n/a
9	chr1:152758755-152758805	AG04449	skin:	fetal
10	chr1:152768267-152768317	AG10803	skin:	n/a
11	chr1:152758632-152758682	BJ	skin:	n/a
12	chr1:152758632-152758682	HEK293	kidney:	embryo
13	chr1:152758632-152758682	AG09309	skin:	n/a
14	chr1:152760341-152760391	Jurkat	blood:	n/a
15	chr1:152758453-152758503	AoSMC	blood vessel:	n/a
16	chr1:152768267-152768317	SAEC	small airway:	n/a
17	chr1:152759772-152759822	NHDF-neo	bronchial:	n/a
18	chr1:152768267-152768317	K562	blood:	n/a
19	chr1:152758755-152758805	SK-N-MC	brain:	n/a
20	chr1:152757464-152757514	ovcar-3	ovarian:	n/a
21	chr1:152759772-152759822	ECC-1	luminal epithelium:	n/a
22	chr1:152758453-152758503	GM12892	blood:	n/a
23	chr1:152758755-152758805	HIPEpiC	eye:	n/a
24	chr1:152758632-152758682	AG04450	lung:	fetal
25	chr1:152760341-152760391	H1-hESC	embryonic stem cell:	embryo
26	chr1:152758632-152758682	NT2-D1	testis:	n/a
27	chr1:152757464-152757514	BE2_C	brain:	n/a
28	chr1:152760341-152760391	SK-N-SH_RA	brain:	n/a
29	chr1:152758755-152758805	HRE	kidney:	n/a
30	chr1:152760341-152760391	ECC-1	luminal epithelium:	n/a
31	chr1:152760341-152760391	PrEC	prostate:	n/a
32	chr1:152758632-152758682	BE2_C	brain:	n/a
33	chr1:152757464-152757514	NB4	blood:	n/a
34	chr1:152758755-152758805	HCF	heart:	n/a
35	chr1:152758453-152758503	BE2_C	brain:	n/a
36	chr1:152768267-152768317	PANC-1	pancreas:	n/a
37	chr1:152758632-152758682	NH-A	brain:	n/a
38	chr1:152758632-152758682	RPTEC	kidney:	n/a
39	chr1:152759772-152759822	HRPEpiC	eye:	n/a
40	chr1:152760341-152760391	NB4	blood:	n/a
41	chr1:152768267-152768317	AG09309	skin:	n/a
42	chr1:152760341-152760391	HL-60	blood:	n/a
43	chr1:152757464-152757514	GM06990	blood:	n/a
44	chr1:152768267-152768317	HRE	kidney:	n/a
45	chr1:152758453-152758503	HEK293	kidney:	embryo
46	chr1:152757464-152757514	HUVEC	blood vessel:	n/a
47	chr1:152758632-152758682	ProgFib	skin:	n/a
48	chr1:152759772-152759822	AG10803	skin:	n/a
49	chr1:152768267-152768317	NH-A	brain:	n/a
50	chr1:152757464-152757514	K562	blood:	n/a

No data

Variant related genes	Relation type
LCE1E	TF binding region
LCE1D	TF binding region
LCE1E	CpG island
LCE1D	CpG island

Extended variants
information (count: 198 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs950337	chr1:152756774-152756775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368580690	chr1:152756799-152756800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs950338	chr1:152756806-152756807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs574170978	chr1:152756838-152756839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368755099	chr1:152756854-152756855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs950339	chr1:152756891-152756892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562852415	chr1:152756901-152756902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531627989	chr1:152756908-152756909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141864439	chr1:152756945-152756946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544910640	chr1:152756984-152756985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367551614	chr1:152756995-152756996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146259451	chr1:152757034-152757035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181693419	chr1:152757079-152757080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547181991	chr1:152757083-152757084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77199844	chr1:152757095-152757096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560758706	chr1:152757118-152757119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529695906	chr1:152757138-152757139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549487457	chr1:152757190-152757191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139329955	chr1:152757204-152757205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149922363	chr1:152757206-152757207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75867991	chr1:152757244-152757245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571842417	chr1:152757262-152757263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56130300	chr1:152757273-152757274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs148632437	chr1:152757280-152757281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184625593	chr1:152757363-152757364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574286679	chr1:152757379-152757380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536712595	chr1:152757403-152757404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563639941	chr1:152757420-152757421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576511644	chr1:152757440-152757441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545073403	chr1:152757441-152757442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188551852	chr1:152757467-152757468	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs571971774	chr1:152757502-152757503	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs540930431	chr1:152757565-152757566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11205104	chr1:152757600-152757601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560722382	chr1:152757601-152757602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529854905	chr1:152757609-152757610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142085895	chr1:152757619-152757620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181321850	chr1:152757626-152757627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563215729	chr1:152757654-152757655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532281017	chr1:152757666-152757667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147768968	chr1:152757669-152757670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141080040	chr1:152757683-152757684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7530000	chr1:152757690-152757691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561109415	chr1:152757717-152757718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145663382	chr1:152757732-152757733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11205105	chr1:152757741-152757742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs536822697	chr1:152757777-152757778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115697588	chr1:152757781-152757782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576451935	chr1:152757790-152757791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539135073	chr1:152757835-152757836	Weak transcription	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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152755800-152758200	Weak transcription	NHEK	skin
2	chr1:152755800-152758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:152756000-152758200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:152756000-152758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152756000-152758200	Weak transcription	HMEC	breast
6	chr1:152757200-152757400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:152757400-152758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:152758200-152758400	Enhancers	HMEC	breast
9	chr1:152758200-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:152758200-152758600	Enhancers	Fetal Stomach	stomach
11	chr1:152758200-152758800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:152758200-152758800	Enhancers	Ovary	ovary
13	chr1:152758200-152759000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:152758200-152759200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:152758200-152759200	Enhancers	NHEK	skin
16	chr1:152758400-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:152758400-152758800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:152758400-152759400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:152758400-152759400	Flanking Active TSS	HMEC	breast
20	chr1:152758600-152758800	Bivalent Enhancer	Lung	lung
21	chr1:152758600-152759000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:152758600-152759200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:152758800-152759200	Enhancers	HepG2	liver
24	chr1:152759000-152759400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:152759000-152759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:152759200-152759800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:152759400-152759800	Enhancers	HMEC	breast
28	chr1:152765600-152765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:152765800-152766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:152766000-152767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:152766800-152767800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:152767600-152769600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:152767800-152769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:152768000-152769000	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links