Variant report

Variant	nsv1012532
Chromosome Location	chr1:152548412-152586582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:245)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:152549641-152550036	GM12878	blood:	n/a	n/a
2	BACH1	chr1:152555244-152555264	K562	blood:	n/a	chr1:152555246-152555260
3	BATF	chr1:152549573-152550008	GM12878	blood:	n/a	n/a
4	BATF	chr1:152549615-152549949	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:152569565-152569765	HepG2	liver:	n/a	n/a
6	CTCF	chr1:152558180-152558330	GM12866	blood:	n/a	n/a
7	CTCF	chr1:152558040-152558190	GM12869	blood:	n/a	n/a
8	CTCF	chr1:152558280-152558430	RPTEC	kidney:	n/a	n/a
9	CTCF	chr1:152558064-152558405	GM12878	blood:	n/a	n/a
10	CTCF	chr1:152558120-152558270	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr1:152558120-152558270	GM12878	blood:	n/a	n/a
12	CTCF	chr1:152558160-152558310	Caco-2	colon:	n/a	n/a
13	CTCF	chr1:152558167-152558328	K562	blood:	n/a	n/a
14	CTCF	chr1:152558169-152558173	GM20000	blood:	n/a	n/a
15	CTCF	chr1:152558120-152558270	GM12867	blood:	n/a	n/a
16	CTCF	chr1:152558160-152558310	GM12873	blood:	n/a	n/a
17	CTCF	chr1:152558250-152558293	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr1:152558166-152558316	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:152558160-152558310	GM12874	blood:	n/a	n/a
20	CTCF	chr1:152558140-152558290	GM12871	blood:	n/a	n/a
21	CTCF	chr1:152558060-152558210	GM12869	blood:	n/a	n/a
22	CTCF	chr1:152558180-152558330	HMF	breast:	n/a	n/a
23	CTCF	chr1:152558180-152558330	HCT-116	colon:	n/a	n/a
24	CTCF	chr1:152558100-152558250	HepG2	liver:	n/a	n/a
25	CTCF	chr1:152558160-152558310	NB4	blood:	n/a	n/a
26	CTCF	chr1:152552201-152552270	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:152558140-152558290	GM12864	blood:	n/a	n/a
28	CTCF	chr1:152558100-152558250	GM12864	blood:	n/a	n/a
29	CTCF	chr1:152558100-152558250	HMF	breast:	n/a	n/a
30	CTCF	chr1:152558174-152558291	GM20000	blood:	n/a	n/a
31	CTCF	chr1:152558140-152558316	NHEK	skin:	n/a	n/a
32	CTCF	chr1:152558178-152558296	LNCaP	prostate:	n/a	n/a
33	CTCF	chr1:152558120-152558270	GM12872	blood:	n/a	n/a
34	CTCF	chr1:152558240-152558390	HCT-116	colon:	n/a	n/a
35	CTCF	chr1:152558160-152558310	GM12865	blood:	n/a	n/a
36	CTCF	chr1:152558200-152558350	GM12865	blood:	n/a	n/a
37	CTCF	chr1:152580040-152580190	GM12874	blood:	n/a	chr1:152580060-152580068
38	CTCF	chr1:152558166-152558276	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:152558140-152558290	GM12874	blood:	n/a	n/a
40	CTCF	chr1:152558219-152558261	GM13976	blood:	n/a	n/a
41	CTCF	chr1:152552800-152552950	NHEK	skin:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
42	CTCF	chr1:152558120-152558270	GM12871	blood:	n/a	n/a
43	CTCF	chr1:152558180-152558330	GM12873	blood:	n/a	n/a
44	CTCF	chr1:152558180-152558330	GM12868	blood:	n/a	n/a
45	CTCF	chr1:152558143-152558341	K562	blood:	n/a	n/a
46	CTCF	chr1:152558140-152558290	GM12872	blood:	n/a	n/a
47	CTCF	chr1:152558185-152558296	GM13977	blood:	n/a	n/a
48	CTCF	chr1:152558140-152558290	HMEC	breast:	n/a	n/a
49	CTCF	chr1:152549740-152549890	GM06990	blood:	n/a	n/a
50	CTCF	chr1:152558127-152558330	GM12878	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152552175-152552225	Hepatocyte	liver:	n/a
2	chr1:152552175-152552225	Hepatocyte	liver:	n/a
3	chr1:152553244-152553294	AoSMC	blood vessel:	n/a
4	chr1:152553096-152553146	RPTEC	kidney:	n/a
5	chr1:152552494-152552544	SK-N-SH_RA	brain:	n/a
6	chr1:152553096-152553146	HRE	kidney:	n/a
7	chr1:152553096-152553146	MCF10A-Er-Src	breast:	n/a
8	chr1:152552175-152552225	GM12892	blood:	n/a
9	chr1:152552175-152552225	HCF	heart:	n/a
10	chr1:152552175-152552225	NB4	blood:	n/a
11	chr1:152553244-152553294	NHDF-neo	bronchial:	n/a
12	chr1:152552494-152552544	BJ	skin:	n/a
13	chr1:152553096-152553146	U87	brain:	n/a
14	chr1:152552175-152552225	PFSK-1	brain:	n/a
15	chr1:152552494-152552544	SAEC	small airway:	n/a
16	chr1:152552175-152552225	AG09309	skin:	n/a
17	chr1:152553244-152553294	CMK	blood:	n/a
18	chr1:152553096-152553146	HepG2	liver:	n/a
19	chr1:152552175-152552225	ovcar-3	ovarian:	n/a
20	chr1:152553244-152553294	H1-hESC	embryonic stem cell:	embryo
21	chr1:152553096-152553146	AG10803	skin:	n/a
22	chr1:152553244-152553294	ECC-1	luminal epithelium:	n/a
23	chr1:152553096-152553146	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:152552175-152552225	GM06990	blood:	n/a
25	chr1:152553244-152553294	HRPEpiC	eye:	n/a
26	chr1:152553244-152553294	NT2-D1	testis:	n/a
27	chr1:152553096-152553146	K562	blood:	n/a
28	chr1:152553244-152553294	ProgFib	skin:	n/a
29	chr1:152552175-152552225	NT2-D1	testis:	n/a
30	chr1:152553244-152553294	Hela-S3	cervix:	n/a
31	chr1:152552494-152552544	PrEC	prostate:	n/a
32	chr1:152552494-152552544	SK-N-MC	brain:	n/a
33	chr1:152552494-152552544	MCF10A-Er-Src	breast:	n/a
34	chr1:152552175-152552225	HRPEpiC	eye:	n/a
35	chr1:152553244-152553294	HCT-116	colon:	n/a
36	chr1:152553244-152553294	HCM	heart:	n/a
37	chr1:152552175-152552225	NHBE	bronchial:	n/a
38	chr1:152552494-152552544	AG09309	skin:	n/a
39	chr1:152552494-152552544	HUVEC	blood vessel:	n/a
40	chr1:152553244-152553294	PANC-1	pancreas:	n/a
41	chr1:152553096-152553146	BE2_C	brain:	n/a
42	chr1:152552175-152552225	HRCEpiC	kidney:	n/a
43	chr1:152553096-152553146	ProgFib	skin:	n/a
44	chr1:152553096-152553146	NB4	blood:	n/a
45	chr1:152552175-152552225	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:152552175-152552225	HUVEC	blood vessel:	n/a
47	chr1:152553096-152553146	SAEC	small airway:	n/a
48	chr1:152552175-152552225	SK-N-SH	brain:	n/a
49	chr1:152552494-152552544	HIPEpiC	eye:	n/a
50	chr1:152552175-152552225	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152580545..152582523-chr1:152584809..152586590,2	K562	blood:

No data

Variant related genes	Relation type
LCE3B	TF binding region
LCE3D	TF binding region
LCE3C	TF binding region
LCE3B	CpG island
LCE3D	CpG island
LCE3C	CpG island
ENSG00000187238	chromatin interactions

Extended variants
information (count: 354 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530220256	chr1:152548416-152548417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564710967	chr1:152548456-152548457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572012859	chr1:152548473-152548474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4845445	chr1:152548480-152548481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs144848503	chr1:152548576-152548577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371671166	chr1:152548607-152548608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529656489	chr1:152548616-152548617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541150273	chr1:152548625-152548626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549877564	chr1:152548635-152548636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190856663	chr1:152548668-152548669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545882892	chr1:152548671-152548672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373577957	chr1:152548672-152548673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183904282	chr1:152548715-152548716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552004934	chr1:152548729-152548730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187200443	chr1:152548787-152548788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534536447	chr1:152548800-152548801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148578701	chr1:152548889-152548890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371580854	chr1:152548890-152548891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16834214	chr1:152548906-152548907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536235666	chr1:152548921-152548922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372270288	chr1:152548946-152548947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559408187	chr1:152548987-152548988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191843304	chr1:152549059-152549060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576151717	chr1:152549065-152549066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538700712	chr1:152549072-152549073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551711450	chr1:152549076-152549077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558340618	chr1:152549194-152549195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571902265	chr1:152549198-152549199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541364281	chr1:152549251-152549252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112462837	chr1:152549281-152549282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546728699	chr1:152549388-152549389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574411351	chr1:152549395-152549396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543069683	chr1:152549456-152549457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142925641	chr1:152549457-152549458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532252321	chr1:152549464-152549465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560561578	chr1:152549469-152549470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552290555	chr1:152549548-152549549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183612203	chr1:152549549-152549550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78221768	chr1:152549613-152549614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373416646	chr1:152549626-152549627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527864791	chr1:152549646-152549647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187106042	chr1:152549671-152549672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147709358	chr1:152549702-152549703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532588748	chr1:152549709-152549710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530390548	chr1:152549712-152549713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142478708	chr1:152549716-152549717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191872094	chr1:152549756-152549757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529846032	chr1:152549812-152549813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369005005	chr1:152549822-152549823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376226531	chr1:152549858-152549859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152543000-152552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152547000-152552400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152549400-152549800	Enhancers	GM12878-XiMat	blood
4	chr1:152549400-152550800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:152549400-152551400	Enhancers	HSMMtube	muscle
6	chr1:152549400-152551600	Enhancers	HSMM	muscle
7	chr1:152549800-152551400	Weak transcription	GM12878-XiMat	blood
8	chr1:152550800-152555200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:152551400-152552600	Enhancers	GM12878-XiMat	blood
10	chr1:152551600-152552800	Weak transcription	HSMM	muscle
11	chr1:152552400-152553200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:152552400-152553400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:152552600-152553200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:152552600-152553200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:152552600-152553400	Enhancers	HMEC	breast
16	chr1:152552800-152553200	Enhancers	HSMM	muscle
17	chr1:152552800-152553400	Enhancers	NHEK	skin
18	chr1:152553400-152555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:152553400-152555000	Weak transcription	HMEC	breast
20	chr1:152553400-152555200	Weak transcription	NHEK	skin
21	chr1:152555000-152555600	Flanking Active TSS	A549	lung
22	chr1:152555000-152555600	Enhancers	HMEC	breast
23	chr1:152555000-152555800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:152555200-152555600	Enhancers	NHEK	skin
25	chr1:152555400-152555600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:152555400-152555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:152569600-152570200	Enhancers	Liver	Liver

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