Variant report

Variant	nsv1010309
Chromosome Location	chr1:152551249-152586226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:152555244-152555264	K562	blood:	n/a	chr1:152555246-152555260
2	CEBPB	chr1:152569565-152569765	HepG2	liver:	n/a	n/a
3	CTCF	chr1:152558169-152558173	GM20000	blood:	n/a	n/a
4	CTCF	chr1:152558171-152558329	GM10248	blood:	n/a	n/a
5	CTCF	chr1:152558140-152558290	GM12864	blood:	n/a	n/a
6	CTCF	chr1:152558140-152558290	GM12872	blood:	n/a	n/a
7	CTCF	chr1:152558140-152558316	NHEK	skin:	n/a	n/a
8	CTCF	chr1:152570000-152570150	GM12864	blood:	n/a	n/a
9	CTCF	chr1:152558160-152558310	NB4	blood:	n/a	n/a
10	CTCF	chr1:152558160-152558310	GM12873	blood:	n/a	n/a
11	CTCF	chr1:152558223-152558283	GM19240	blood:	n/a	n/a
12	CTCF	chr1:152558219-152558261	GM13976	blood:	n/a	n/a
13	CTCF	chr1:152558140-152558290	GM12871	blood:	n/a	n/a
14	CTCF	chr1:152558178-152558296	LNCaP	prostate:	n/a	n/a
15	CTCF	chr1:152552840-152552990	HMEC	breast:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
16	CTCF	chr1:152558140-152558290	GM12870	blood:	n/a	n/a
17	CTCF	chr1:152558200-152558350	HRE	kidney:	n/a	n/a
18	CTCF	chr1:152558280-152558430	RPTEC	kidney:	n/a	n/a
19	CTCF	chr1:152557580-152557730	GM12872	blood:	n/a	n/a
20	CTCF	chr1:152558138-152558312	Gliobla	brain:	n/a	n/a
21	CTCF	chr1:152558180-152558330	HCT-116	colon:	n/a	n/a
22	CTCF	chr1:152558167-152558328	K562	blood:	n/a	n/a
23	CTCF	chr1:152558120-152558270	GM12872	blood:	n/a	n/a
24	CTCF	chr1:152558185-152558296	GM13977	blood:	n/a	n/a
25	CTCF	chr1:152558100-152558250	K562	blood:	n/a	n/a
26	CTCF	chr1:152558140-152558290	HMEC	breast:	n/a	n/a
27	CTCF	chr1:152552800-152552950	NHEK	skin:	n/a	chr1:152552927-152552936 chr1:152552921-152552939
28	CTCF	chr1:152558240-152558390	HCT-116	colon:	n/a	n/a
29	CTCF	chr1:152557900-152558050	GM12873	blood:	n/a	n/a
30	CTCF	chr1:152558201-152558277	K562	blood:	n/a	n/a
31	CTCF	chr1:152558187-152558309	GM10266	blood:	n/a	n/a
32	CTCF	chr1:152558100-152558250	GM12864	blood:	n/a	n/a
33	CTCF	chr1:152558180-152558330	GM12868	blood:	n/a	n/a
34	CTCF	chr1:152558160-152558310	GM12865	blood:	n/a	n/a
35	CTCF	chr1:152558143-152558341	K562	blood:	n/a	n/a
36	CTCF	chr1:152557860-152558010	K562	blood:	n/a	n/a
37	CTCF	chr1:152558060-152558210	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:152558120-152558270	GM12870	blood:	n/a	n/a
39	CTCF	chr1:152558145-152558310	LNCaP	prostate:	n/a	n/a
40	CTCF	chr1:152558180-152558330	GM12866	blood:	n/a	n/a
41	CTCF	chr1:152558180-152558330	HMF	breast:	n/a	n/a
42	CTCF	chr1:152558040-152558190	GM12869	blood:	n/a	n/a
43	CTCF	chr1:152558250-152558293	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr1:152558120-152558270	GM12871	blood:	n/a	n/a
45	CTCF	chr1:152558180-152558330	GM12873	blood:	n/a	n/a
46	CTCF	chr1:152558180-152558330	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr1:152558060-152558210	RPTEC	kidney:	n/a	n/a
48	CTCF	chr1:152558060-152558210	GM12869	blood:	n/a	n/a
49	CTCF	chr1:152558160-152558310	Caco-2	colon:	n/a	n/a
50	CTCF	chr1:152558166-152558316	Hela-S3	cervix:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152553244-152553294	HRPEpiC	eye:	n/a
2	chr1:152552175-152552225	HIPEpiC	eye:	n/a
3	chr1:152553096-152553146	AG09319	gingival:	n/a
4	chr1:152553096-152553146	GM19239	blood:	n/a
5	chr1:152552175-152552225	GM06990	blood:	n/a
6	chr1:152552175-152552225	AG09319	gingival:	n/a
7	chr1:152552175-152552225	HL-60	blood:	n/a
8	chr1:152553244-152553294	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:152553244-152553294	GM12892	blood:	n/a
10	chr1:152553096-152553146	HRCEpiC	kidney:	n/a
11	chr1:152553096-152553146	AG04449	skin:	fetal
12	chr1:152552175-152552225	AG04450	lung:	fetal
13	chr1:152553096-152553146	SK-N-MC	brain:	n/a
14	chr1:152553096-152553146	MCF-7	breast:	n/a
15	chr1:152552494-152552544	HNPCEpiC	eye:	n/a
16	chr1:152553096-152553146	AG09309	skin:	n/a
17	chr1:152552175-152552225	Jurkat	blood:	n/a
18	chr1:152552494-152552544	Hela-S3	cervix:	n/a
19	chr1:152552175-152552225	GM19239	blood:	n/a
20	chr1:152553244-152553294	HIPEpiC	eye:	n/a
21	chr1:152553244-152553294	U87	brain:	n/a
22	chr1:152553244-152553294	HL-60	blood:	n/a
23	chr1:152553096-152553146	SK-N-SH_RA	brain:	n/a
24	chr1:152553096-152553146	GM06990	blood:	n/a
25	chr1:152553096-152553146	PFSK-1	brain:	n/a
26	chr1:152553244-152553294	HRCEpiC	kidney:	n/a
27	chr1:152553096-152553146	NHBE	bronchial:	n/a
28	chr1:152552175-152552225	HNPCEpiC	eye:	n/a
29	chr1:152552175-152552225	SKMC	muscle:	n/a
30	chr1:152552494-152552544	A549	lung:	n/a
31	chr1:152552175-152552225	ProgFib	skin:	n/a
32	chr1:152553096-152553146	RPTEC	kidney:	n/a
33	chr1:152552175-152552225	AG09309	skin:	n/a
34	chr1:152552494-152552544	Hepatocyte	liver:	n/a
35	chr1:152552494-152552544	GM19239	blood:	n/a
36	chr1:152552175-152552225	NHBE	bronchial:	n/a
37	chr1:152552175-152552225	ECC-1	luminal epithelium:	n/a
38	chr1:152552494-152552544	SKMC	muscle:	n/a
39	chr1:152553244-152553294	H1-hESC	embryonic stem cell:	embryo
40	chr1:152552175-152552225	SK-N-SH	brain:	n/a
41	chr1:152553096-152553146	HCPEpiC	choroid plexus:	n/a
42	chr1:152553244-152553294	HNPCEpiC	eye:	n/a
43	chr1:152553096-152553146	T-47D	breast:	n/a
44	chr1:152552175-152552225	U87	brain:	n/a
45	chr1:152553096-152553146	HRPEpiC	eye:	n/a
46	chr1:152552494-152552544	ECC-1	luminal epithelium:	n/a
47	chr1:152553096-152553146	HEEpiC	esophagus:	n/a
48	chr1:152552494-152552544	IMR90	lung:	fetal
49	chr1:152552494-152552544	PFSK-1	brain:	n/a
50	chr1:152552494-152552544	HCM	heart:	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
LCE3C	TF binding region
LCE3B	TF binding region
LCE3D	TF binding region
LCE3C	CpG island
LCE3B	CpG island
LCE3D	CpG island
ENSG00000187238	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4112788	chr1:152551276-152551277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs571515447	chr1:152551308-152551309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114593512	chr1:152551310-152551311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4112787	chr1:152551325-152551326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561356142	chr1:152551364-152551365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193085846	chr1:152551420-152551421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553927214	chr1:152551475-152551476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561830108	chr1:152551504-152551505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61813877	chr1:152551547-152551548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563628443	chr1:152551584-152551585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532623632	chr1:152551761-152551762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75144242	chr1:152551766-152551767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529290291	chr1:152551770-152551771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145923702	chr1:152551800-152551801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11589128	chr1:152551801-152551802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528615615	chr1:152551901-152551902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376959078	chr1:152551927-152551928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145461845	chr1:152551944-152551945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568213439	chr1:152551950-152551951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537243351	chr1:152551986-152551987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550756109	chr1:152552029-152552030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570763422	chr1:152552039-152552040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184447251	chr1:152552082-152552083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200494227	chr1:152552108-152552109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376200585	chr1:152552109-152552110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201555048	chr1:152552131-152552132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199513907	chr1:152552140-152552141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145149145	chr1:152552152-152552153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138014044	chr1:152552160-152552161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374860616	chr1:152552161-152552162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140655894	chr1:152552168-152552169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57201979	chr1:152552171-152552172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373702183	chr1:152552172-152552173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61745173	chr1:152552176-152552177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555436451	chr1:152552178-152552179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137868314	chr1:152552192-152552193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199646364	chr1:152552194-152552195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138761139	chr1:152552197-152552198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201347460	chr1:152552205-152552206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563491020	chr1:152552212-152552213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368425875	chr1:152552217-152552218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147417899	chr1:152552220-152552221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371301948	chr1:152552222-152552223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199913123	chr1:152552223-152552224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138117867	chr1:152552229-152552230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181089469	chr1:152552235-152552236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199832759	chr1:152552238-152552239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150593431	chr1:152552239-152552240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145962377	chr1:152552262-152552263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139649941	chr1:152552263-152552264	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:25 , 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	chr1:152549400-152551400	Enhancers	HSMMtube	muscle
4	chr1:152549400-152551600	Enhancers	HSMM	muscle
5	chr1:152549800-152551400	Weak transcription	GM12878-XiMat	blood
6	chr1:152550800-152555200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:152551400-152552600	Enhancers	GM12878-XiMat	blood
8	chr1:152551600-152552800	Weak transcription	HSMM	muscle
9	chr1:152552400-152553200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:152552400-152553400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:152552600-152553200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:152552600-152553200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:152552600-152553400	Enhancers	HMEC	breast
14	chr1:152552800-152553200	Enhancers	HSMM	muscle
15	chr1:152552800-152553400	Enhancers	NHEK	skin
16	chr1:152553400-152555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:152553400-152555000	Weak transcription	HMEC	breast
18	chr1:152553400-152555200	Weak transcription	NHEK	skin
19	chr1:152555000-152555600	Flanking Active TSS	A549	lung
20	chr1:152555000-152555600	Enhancers	HMEC	breast
21	chr1:152555000-152555800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:152555200-152555600	Enhancers	NHEK	skin
23	chr1:152555400-152555600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:152555400-152555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:152569600-152570200	Enhancers	Liver	Liver

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