Variant report

Variant	nsv1009870
Chromosome Location	chr1:152757690-152767951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:307)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

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

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152760341-152760391	HCM	heart:	n/a
2	chr1:152758755-152758805	AG09309	skin:	n/a
3	chr1:152760341-152760391	HCM	heart:	n/a
4	chr1:152758755-152758805	AG09309	skin:	n/a
5	chr1:152760341-152760391	SAEC	small airway:	n/a
6	chr1:152758632-152758682	AoSMC	blood vessel:	n/a
7	chr1:152760341-152760391	HAEpiC	amniotic membrane:	n/a
8	chr1:152758755-152758805	HEK293	kidney:	embryo
9	chr1:152760341-152760391	PANC-1	pancreas:	n/a
10	chr1:152759772-152759822	Jurkat	blood:	n/a
11	chr1:152758632-152758682	SK-N-SH	brain:	n/a
12	chr1:152758632-152758682	ovcar-3	ovarian:	n/a
13	chr1:152758755-152758805	LNCaP	prostate:	n/a
14	chr1:152759772-152759822	SK-N-MC	brain:	n/a
15	chr1:152758755-152758805	A549	lung:	n/a
16	chr1:152758632-152758682	AG09319	gingival:	n/a
17	chr1:152759772-152759822	GM19239	blood:	n/a
18	chr1:152760341-152760391	IMR90	lung:	fetal
19	chr1:152760341-152760391	PrEC	prostate:	n/a
20	chr1:152759772-152759822	MCF-7	breast:	n/a
21	chr1:152760341-152760391	AG04450	lung:	fetal
22	chr1:152758453-152758503	PrEC	prostate:	n/a
23	chr1:152758755-152758805	H1-hESC	embryonic stem cell:	embryo
24	chr1:152759772-152759822	AG04449	skin:	fetal
25	chr1:152758755-152758805	AG04450	lung:	fetal
26	chr1:152758632-152758682	HEEpiC	esophagus:	n/a
27	chr1:152759772-152759822	AoSMC	blood vessel:	n/a
28	chr1:152760341-152760391	HCF	heart:	n/a
29	chr1:152758632-152758682	HNPCEpiC	eye:	n/a
30	chr1:152760341-152760391	PFSK-1	brain:	n/a
31	chr1:152760341-152760391	HEEpiC	esophagus:	n/a
32	chr1:152760341-152760391	RPTEC	kidney:	n/a
33	chr1:152758755-152758805	HepG2	liver:	n/a
34	chr1:152758755-152758805	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:152758632-152758682	NH-A	brain:	n/a
36	chr1:152759772-152759822	HIPEpiC	eye:	n/a
37	chr1:152760341-152760391	AoSMC	blood vessel:	n/a
38	chr1:152758632-152758682	LNCaP	prostate:	n/a
39	chr1:152758755-152758805	GM12878	blood:	n/a
40	chr1:152759772-152759822	AG09309	skin:	n/a
41	chr1:152758453-152758503	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:152760341-152760391	GM06990	blood:	n/a
43	chr1:152759772-152759822	HRE	kidney:	n/a
44	chr1:152759772-152759822	NHBE	bronchial:	n/a
45	chr1:152758755-152758805	HCT-116	colon:	n/a
46	chr1:152758755-152758805	HCM	heart:	n/a
47	chr1:152758755-152758805	AoSMC	blood vessel:	n/a
48	chr1:152759772-152759822	PANC-1	pancreas:	n/a
49	chr1:152758755-152758805	ECC-1	luminal epithelium:	n/a
50	chr1:152758453-152758503	PFSK-1	brain:	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: 143 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7530000	chr1:152757690-152757691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561109415	chr1:152757717-152757718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145663382	chr1:152757732-152757733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11205105	chr1:152757741-152757742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs536822697	chr1:152757777-152757778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115697588	chr1:152757781-152757782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576451935	chr1:152757790-152757791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539135073	chr1:152757835-152757836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558633780	chr1:152757866-152757867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79816707	chr1:152757894-152757895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540893367	chr1:152757905-152757906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560835028	chr1:152757979-152757980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531862918	chr1:152757982-152757983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574418884	chr1:152757996-152757997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59688597	chr1:152757997-152757998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563537101	chr1:152758000-152758001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141051414	chr1:152758025-152758026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545883988	chr1:152758128-152758129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114882698	chr1:152758151-152758152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528105756	chr1:152758235-152758236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190970005	chr1:152758283-152758284	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs375603877	chr1:152758376-152758377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567959248	chr1:152758425-152758426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551555251	chr1:152758428-152758429	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546704409	chr1:152758452-152758453	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530468148	chr1:152758453-152758454	Enhancers Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs550068829	chr1:152758468-152758469	Enhancers Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs182361458	chr1:152758493-152758494	Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs150240410	chr1:152758518-152758519	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11576947	chr1:152758519-152758520	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs565871121	chr1:152758536-152758537	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138829831	chr1:152758556-152758557	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554590632	chr1:152758597-152758598	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574380527	chr1:152758600-152758601	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113357477	chr1:152758602-152758603	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs41268482	chr1:152758656-152758657	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112621117	chr1:152758658-152758659	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs576987390	chr1:152758671-152758672	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs545544952	chr1:152758696-152758697	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148953236	chr1:152758737-152758738	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs528245065	chr1:152758747-152758748	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs41268484	chr1:152758766-152758767	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs76539966	chr1:152758815-152758816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530285219	chr1:152758848-152758849	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs72702899	chr1:152758915-152758916	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573941290	chr1:152758970-152758971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186411349	chr1:152758992-152758993	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10888516	chr1:152759010-152759011	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs138917341	chr1:152759086-152759087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559661546	chr1:152759184-152759185	Enhancers Flanking Active TSS	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:32 , 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	chr1:152757400-152758400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:152758200-152758400	Enhancers	HMEC	breast
8	chr1:152758200-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152758200-152758600	Enhancers	Fetal Stomach	stomach
10	chr1:152758200-152758800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:152758200-152758800	Enhancers	Ovary	ovary
12	chr1:152758200-152759000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:152758200-152759200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:152758200-152759200	Enhancers	NHEK	skin
15	chr1:152758400-152758600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:152758400-152758800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:152758400-152759400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:152758400-152759400	Flanking Active TSS	HMEC	breast
19	chr1:152758600-152758800	Bivalent Enhancer	Lung	lung
20	chr1:152758600-152759000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:152758600-152759200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:152758800-152759200	Enhancers	HepG2	liver
23	chr1:152759000-152759400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:152759000-152759400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:152759200-152759800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:152759400-152759800	Enhancers	HMEC	breast
27	chr1:152765600-152765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:152765800-152766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:152766000-152767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:152766800-152767800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:152767600-152769600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:152767800-152769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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