Variant report

Variant	esv2755267
Chromosome Location	chr2:37948570-37990079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr2:37962705-37962895	GM12878	blood:	n/a	n/a
2	BCL3	chr2:37984248-37984605	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:37977457-37977649	K562	blood:	n/a	n/a
4	CEBPB	chr2:37958765-37959048	A549	lung:	n/a	chr2:37958919-37958930
5	CEBPB	chr2:37962124-37962469	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:37980323-37980575	A549	lung:	n/a	n/a
7	CEBPB	chr2:37979935-37980527	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:37977395-37977710	MCF-7	breast:	n/a	n/a
9	CEBPB	chr2:37958731-37959009	MCF-7	breast:	n/a	chr2:37958919-37958930 chr2:37958758-37958766
10	CEBPB	chr2:37980380-37980532	K562	blood:	n/a	n/a
11	CEBPB	chr2:37980414-37980446	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr2:37977492-37977692	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:37979966-37980544	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:37958749-37959043	HepG2	liver:	n/a	chr2:37958919-37958930 chr2:37958758-37958766
15	CEBPB	chr2:37958768-37959040	IMR90	lung:	n/a	chr2:37958919-37958930
16	CEBPB	chr2:37958826-37959080	K562	blood:	n/a	chr2:37958919-37958930
17	CEBPB	chr2:37958770-37959005	Hela-S3	cervix:	n/a	chr2:37958919-37958930
18	CEBPB	chr2:37977474-37977568	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:37965707-37965907	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:37967060-37967210	BE2_C	brain:	n/a	n/a
21	CTCF	chr2:37965360-37965510	Caco-2	colon:	n/a	n/a
22	CTCF	chr2:37965460-37965610	GM12875	blood:	n/a	n/a
23	CTCF	chr2:37984080-37984230	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr2:37977560-37977710	HMEC	breast:	n/a	n/a
25	CTCF	chr2:37984220-37984370	GM12875	blood:	n/a	n/a
26	CTCF	chr2:37984260-37984410	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr2:37984080-37984230	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr2:37984120-37984270	HEK293	kidney:	n/a	n/a
29	CTCF	chr2:37974260-37974410	GM12873	blood:	n/a	n/a
30	CTCF	chr2:37959340-37959490	GM12873	blood:	n/a	n/a
31	CTCF	chr2:37969100-37969250	GM12873	blood:	n/a	n/a
32	CTCF	chr2:37977500-37977650	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr2:37977500-37977650	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr2:37965440-37965590	HEK293	kidney:	n/a	n/a
35	CTCF	chr2:37977500-37977650	GM12873	blood:	n/a	n/a
36	CTCF	chr2:37977460-37977610	NHEK	skin:	n/a	n/a
37	CTCF	chr2:37984160-37984310	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr2:37966060-37966210	GM12866	blood:	n/a	n/a
39	CTCF	chr2:37965480-37965630	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr2:37974527-37974579	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:37977500-37977650	SAEC	small airway:	n/a	n/a
42	CTCF	chr2:37977540-37977690	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr2:37959400-37959550	AoAF	blood vessel:	n/a	n/a
44	E2F4	chr2:37971163-37971608	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr2:37962689-37962969	GM12878	blood:	n/a	chr2:37962797-37962806 chr2:37962796-37962807
46	EBF1	chr2:37973179-37973458	GM12878	blood:	n/a	n/a
47	EBF1	chr2:37962587-37962996	GM12878	blood:	n/a	chr2:37962797-37962806 chr2:37962796-37962807
48	ELK1	chr2:37984684-37984729	GM12878	blood:	n/a	n/a
49	EP300	chr2:37969300-37970147	SK-N-SH	brain:	n/a	chr2:37969411-37969424
50	EP300	chr2:37965331-37965941	ECC-1	luminal epithelium:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37962248-37962298	HRCEpiC	kidney:	n/a
2	chr2:37969786-37969836	CMK	blood:	n/a
3	chr2:37985316-37985366	T-47D	breast:	n/a
4	chr2:37985316-37985366	Hepatocyte	liver:	n/a
5	chr2:37969786-37969836	GM12892	blood:	n/a
6	chr2:37969786-37969836	HAEpiC	amniotic membrane:	n/a
7	chr2:37985316-37985366	K562	blood:	n/a
8	chr2:37985316-37985366	BE2_C	brain:	n/a
9	chr2:37969786-37969836	HRPEpiC	eye:	n/a
10	chr2:37985316-37985366	HRE	kidney:	n/a
11	chr2:37985316-37985366	MCF10A-Er-Src	breast:	n/a
12	chr2:37962248-37962298	Hela-S3	cervix:	n/a
13	chr2:37962248-37962298	HCT-116	colon:	n/a
14	chr2:37962248-37962298	GM06990	blood:	n/a
15	chr2:37969786-37969836	Hepatocyte	liver:	n/a
16	chr2:37985316-37985366	SAEC	small airway:	n/a
17	chr2:37962248-37962298	HCPEpiC	choroid plexus:	n/a
18	chr2:37969786-37969836	SKMC	muscle:	n/a
19	chr2:37985316-37985366	HNPCEpiC	eye:	n/a
20	chr2:37962248-37962298	NH-A	brain:	n/a
21	chr2:37985316-37985366	HRCEpiC	kidney:	n/a
22	chr2:37985316-37985366	HCT-116	colon:	n/a
23	chr2:37985316-37985366	HAEpiC	amniotic membrane:	n/a
24	chr2:37962248-37962298	HRPEpiC	eye:	n/a
25	chr2:37985316-37985366	AG10803	skin:	n/a
26	chr2:37962248-37962298	PrEC	prostate:	n/a
27	chr2:37962248-37962298	AG10803	skin:	n/a
28	chr2:37969786-37969836	PANC-1	pancreas:	n/a
29	chr2:37985316-37985366	Caco-2	colon:	n/a
30	chr2:37962248-37962298	U87	brain:	n/a
31	chr2:37985316-37985366	GM12878	blood:	n/a
32	chr2:37962248-37962298	MCF-7	breast:	n/a
33	chr2:37969786-37969836	NT2-D1	testis:	n/a
34	chr2:37985316-37985366	CMK	blood:	n/a
35	chr2:37969786-37969836	NB4	blood:	n/a
36	chr2:37969786-37969836	ovcar-3	ovarian:	n/a
37	chr2:37969786-37969836	SAEC	small airway:	n/a
38	chr2:37962248-37962298	HIPEpiC	eye:	n/a
39	chr2:37985316-37985366	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:37962248-37962298	HEK293	kidney:	embryo
41	chr2:37985316-37985366	U87	brain:	n/a
42	chr2:37962248-37962298	HUVEC	blood vessel:	n/a
43	chr2:37985316-37985366	RPTEC	kidney:	n/a
44	chr2:37969786-37969836	GM12891	blood:	n/a
45	chr2:37985316-37985366	A549	lung:	n/a
46	chr2:37962248-37962298	MCF10A-Er-Src	breast:	n/a
47	chr2:37969786-37969836	Hela-S3	cervix:	n/a
48	chr2:37962248-37962298	AoSMC	blood vessel:	n/a
49	chr2:37969786-37969836	AG10803	skin:	n/a
50	chr2:37962248-37962298	HepG2	liver:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37961835..37963512-chr2:37971098..37973001,2	MCF-7	breast:
2	chr2:37958368..37961444-chr2:37963169..37965814,4	K562	blood:
3	chr2:37987301..37989251-chr2:37993852..37996621,2	K562	blood:
4	chr2:37965210..37967124-chr2:37973295..37975217,2	MCF-7	breast:
5	chr2:37984227..37987177-chr2:37987780..37989668,2	MCF-7	breast:
6	chr2:37984227..37987177-chr2:37987780..37989668,2	MCF-7	breast:
7	chr2:37958368..37961673-chr2:37962589..37965814,3	K562	blood:
8	chr2:37944151..37947328-chr2:37948654..37951437,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKD3-1	chr2:37956758-37956921	NONHSAT070140
2	lnc-FAM82A1-3	chr2:37974117-37974189	XLOC_001431
3	lnc-FAM82A1-3	chr2:37971476-37971786	XLOC_001431
4	lnc-PRKD3-1	chr2:37956390-37956510	NONHSAT070138

No data

Variant related genes	Relation type
ENSG00000236572	TF binding region
CDC42EP3	TF binding region
ENSG00000236572	CpG island
CDC42EP3	CpG island
ENSG00000236572	chromatin interactions
ENSG00000163171	chromatin interactions
ACVR2B	miRNA target sites

Extended variants
information (count: 2804 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2804 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12467084	chr2:37948570-37948571	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541022778	chr2:37948574-37948575	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534016034	chr2:37948578-37948579	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555237867	chr2:37948598-37948599	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186926349	chr2:37948611-37948612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578164489	chr2:37948613-37948614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567366594	chr2:37948625-37948626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537497680	chr2:37948631-37948632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545377560	chr2:37948638-37948639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367774500	chr2:37948712-37948713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531024917	chr2:37948721-37948722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190140692	chr2:37948749-37948750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182372723	chr2:37948755-37948756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78277471	chr2:37948760-37948761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555787222	chr2:37948777-37948778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141176331	chr2:37948787-37948788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150707082	chr2:37948842-37948843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186720675	chr2:37948862-37948863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551411003	chr2:37948869-37948870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569800319	chr2:37948880-37948881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563571216	chr2:37948938-37948939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537229912	chr2:37948955-37948956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139206597	chr2:37948964-37948965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573769481	chr2:37948973-37948974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534714919	chr2:37949004-37949005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576545982	chr2:37949027-37949028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191136541	chr2:37949088-37949089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13422447	chr2:37949091-37949092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545648786	chr2:37949095-37949096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563812293	chr2:37949111-37949112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182763574	chr2:37949121-37949122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112047824	chr2:37949132-37949133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1035025	chr2:37949160-37949161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532608643	chr2:37949216-37949217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1476873	chr2:37949251-37949252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7575313	chr2:37949260-37949261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115894668	chr2:37949273-37949274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532418747	chr2:37949320-37949321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188879612	chr2:37949331-37949332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142705216	chr2:37949377-37949378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372152384	chr2:37949378-37949379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1035024	chr2:37949379-37949380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531253356	chr2:37949395-37949396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1035023	chr2:37949408-37949409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147212543	chr2:37949418-37949419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537381511	chr2:37949442-37949443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543213484	chr2:37949444-37949445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193252568	chr2:37949465-37949466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374276593	chr2:37949535-37949536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561275595	chr2:37949644-37949645	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37946800-37949000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:37947200-37948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:37947200-37949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:37947400-37949000	Enhancers	Osteobl	bone
5	chr2:37947600-37948600	Enhancers	Fetal Thymus	thymus
6	chr2:37947600-37948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:37947600-37948800	Enhancers	Fetal Brain Female	brain
8	chr2:37947600-37949000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:37947800-37948600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:37947800-37948600	Enhancers	Aorta	Aorta
11	chr2:37947800-37948600	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:37947800-37949000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:37947800-37949000	Enhancers	NHLF	lung
14	chr2:37948000-37948600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37948200-37948600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:37948400-37948600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:37948400-37949400	Enhancers	NHDF-Ad	bronchial
18	chr2:37948600-37949400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:37957800-37959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:37958400-37959800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:37958800-37959000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:37958800-37959000	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:37958800-37963600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:37959000-37959600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:37959000-37960000	Enhancers	NHDF-Ad	bronchial
26	chr2:37959000-37960800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:37959000-37961200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:37959000-37961600	Enhancers	Fetal Heart	heart
29	chr2:37959000-37965000	Enhancers	Fetal Kidney	kidney
30	chr2:37959200-37959400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:37959200-37959400	Enhancers	Osteobl	bone
32	chr2:37959200-37959800	Enhancers	Fetal Stomach	stomach
33	chr2:37959200-37961000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:37959400-37959600	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:37959400-37959800	Enhancers	Aorta	Aorta
36	chr2:37959400-37960400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:37959400-37961200	Weak transcription	Osteobl	bone
38	chr2:37959600-37962000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:37959800-37960000	Enhancers	Right Ventricle	heart
40	chr2:37959800-37960800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:37959800-37961000	Weak transcription	Fetal Stomach	stomach
42	chr2:37959800-37961000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:37959800-37962000	Weak transcription	Aorta	Aorta
44	chr2:37960000-37960400	Weak transcription	NHDF-Ad	bronchial
45	chr2:37960000-37961200	Weak transcription	Right Ventricle	heart
46	chr2:37960000-37962000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr2:37960400-37961600	Enhancers	NHDF-Ad	bronchial
48	chr2:37960400-37963400	Enhancers	Colon Smooth Muscle	Colon
49	chr2:37960800-37961400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:37960800-37961600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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