Variant report

Variant	nsv457930
Chromosome Location	chr2:55073428-55091029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:62)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55085350-55085887	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:55085495-55085766	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:55085500-55085826	A549	lung:	n/a	n/a
4	CEBPB	chr2:55078867-55079174	HepG2	liver:	n/a	chr2:55079017-55079028
5	CEBPB	chr2:55085522-55085820	MCF-7	breast:	n/a	n/a
6	CEBPB	chr2:55075956-55076085	A549	lung:	n/a	n/a
7	CEBPB	chr2:55075880-55076100	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:55075984-55076052	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:55085279-55085877	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:55085445-55085890	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:55085198-55085846	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:55085502-55085777	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:55085333-55085913	HCT-116	colon:	n/a	n/a
14	CEBPB	chr2:55079001-55079042	K562	blood:	n/a	chr2:55079017-55079028
15	CEBPB	chr2:55085465-55085855	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:55085340-55085905	A549	lung:	n/a	n/a
17	CTCF	chr2:55086652-55086962	K562	blood:	n/a	n/a
18	CTCF	chr2:55085500-55085650	NHEK	skin:	n/a	n/a
19	CTCF	chr2:55086680-55086830	GM06990	blood:	n/a	n/a
20	CTCF	chr2:55085280-55085430	HMF	breast:	n/a	n/a
21	CTCF	chr2:55086708-55086878	HepG2	liver:	n/a	n/a
22	CTCF	chr2:55086660-55086810	AG04449	skin:	n/a	n/a
23	CTCF	chr2:55086763-55086804	GM13977	blood:	n/a	n/a
24	CTCF	chr2:55086773-55086824	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr2:55085260-55085410	HepG2	liver:	n/a	n/a
26	CTCF	chr2:55085400-55085550	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr2:55086700-55086850	HMEC	breast:	n/a	n/a
28	CTCF	chr2:55086700-55086850	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr2:55086640-55086790	A549	lung:	n/a	n/a
30	CTCF	chr2:55086700-55086850	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr2:55086773-55086795	Gliobla	brain:	n/a	n/a
32	CTCF	chr2:55086733-55086873	K562	blood:	n/a	n/a
33	CTCF	chr2:55086726-55086857	NHEK	skin:	n/a	n/a
34	CTCF	chr2:55085540-55085690	HMF	breast:	n/a	n/a
35	CTCF	chr2:55085360-55085510	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr2:55086740-55086890	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr2:55086780-55086930	HMF	breast:	n/a	n/a
38	CTCF	chr2:55086756-55086809	GM12892	blood:	n/a	n/a
39	CTCF	chr2:55086760-55086910	HRE	kidney:	n/a	n/a
40	CTCF	chr2:55086703-55086846	GM12878	blood:	n/a	n/a
41	CTCF	chr2:55086720-55086870	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:55086743-55086814	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:55085360-55085510	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr2:55086749-55086840	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr2:55085320-55085470	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr2:55086640-55086790	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:55086720-55086870	WERI-Rb-1	eye:	n/a	n/a
48	E2F4	chr2:55084216-55084245	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr2:55083262-55083441	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr2:55087467-55087743	MCF10A-Er-Src	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55087588-55087638	H1-hESC	embryonic stem cell:	embryo
2	chr2:55087588-55087638	H1-hESC	embryonic stem cell:	embryo
3	chr2:55087588-55087638	HIPEpiC	eye:	n/a
4	chr2:55087588-55087638	HCF	heart:	n/a
5	chr2:55087588-55087638	NH-A	brain:	n/a
6	chr2:55087588-55087638	K562	blood:	n/a
7	chr2:55087588-55087638	BJ	skin:	n/a
8	chr2:55087588-55087638	ovcar-3	ovarian:	n/a
9	chr2:55087588-55087638	BE2_C	brain:	n/a
10	chr2:55087588-55087638	Hepatocyte	liver:	n/a
11	chr2:55087588-55087638	HCPEpiC	choroid plexus:	n/a
12	chr2:55087588-55087638	HNPCEpiC	eye:	n/a
13	chr2:55087588-55087638	U87	brain:	n/a
14	chr2:55087588-55087638	HEEpiC	esophagus:	n/a
15	chr2:55087588-55087638	MCF-7	breast:	n/a
16	chr2:55087588-55087638	AG09319	gingival:	n/a
17	chr2:55087588-55087638	ECC-1	luminal epithelium:	n/a
18	chr2:55087588-55087638	SK-N-SH	brain:	n/a
19	chr2:55087588-55087638	SK-N-SH_RA	brain:	n/a
20	chr2:55087588-55087638	HRE	kidney:	n/a
21	chr2:55087588-55087638	GM12891	blood:	n/a
22	chr2:55087588-55087638	HCT-116	colon:	n/a
23	chr2:55087588-55087638	AG10803	skin:	n/a
24	chr2:55087588-55087638	NB4	blood:	n/a
25	chr2:55087588-55087638	GM06990	blood:	n/a
26	chr2:55087588-55087638	Hela-S3	cervix:	n/a
27	chr2:55087588-55087638	GM12892	blood:	n/a
28	chr2:55087588-55087638	AG04449	skin:	fetal
29	chr2:55087588-55087638	AoSMC	blood vessel:	n/a
30	chr2:55087588-55087638	PrEC	prostate:	n/a
31	chr2:55087588-55087638	NT2-D1	testis:	n/a
32	chr2:55087588-55087638	GM12878	blood:	n/a
33	chr2:55087588-55087638	A549	lung:	n/a
34	chr2:55087588-55087638	HAEpiC	amniotic membrane:	n/a
35	chr2:55087588-55087638	HEK293	kidney:	embryo
36	chr2:55087588-55087638	T-47D	breast:	n/a
37	chr2:55087588-55087638	HL-60	blood:	n/a
38	chr2:55087588-55087638	GM19239	blood:	n/a
39	chr2:55087588-55087638	RPTEC	kidney:	n/a
40	chr2:55087588-55087638	PFSK-1	brain:	n/a
41	chr2:55087588-55087638	SAEC	small airway:	n/a
42	chr2:55087588-55087638	AG04450	lung:	fetal
43	chr2:55087588-55087638	LNCaP	prostate:	n/a
44	chr2:55087588-55087638	HepG2	liver:	n/a
45	chr2:55087588-55087638	HRCEpiC	kidney:	n/a
46	chr2:55087588-55087638	PANC-1	pancreas:	n/a
47	chr2:55087588-55087638	SK-N-MC	brain:	n/a
48	chr2:55087588-55087638	SKMC	muscle:	n/a
49	chr2:55087588-55087638	MCF10A-Er-Src	breast:	n/a
50	chr2:55087588-55087638	AG09309	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55066064..55068907-chr2:55070022..55073567,3	K562	blood:
2	chr2:55085400..55087533-chr2:55090149..55092630,2	MCF-7	breast:
3	chr2:55087086..55089357-chr2:55090408..55092933,2	K562	blood:
4	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:
5	chr2:55077644..55080366-chr2:55082902..55084991,2	K562	blood:
6	chr2:55078067..55080199-chr2:55091204..55092735,2	MCF-7	breast:
7	chr2:55070043..55071557-chr2:55073869..55075747,2	K562	blood:
8	chr2:55087086..55089357-chr2:55090408..55092933,2	K562	blood:
9	chr2:55085400..55087533-chr2:55090149..55092630,2	MCF-7	breast:

No data

Variant related genes	Relation type
EML6	TF binding region
RNU7-81P	TF binding region
EML6	CpG island
RNU7-81P	CpG island

Extended variants
information (count: 968 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13005511	chr2:55073428-55073429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530954433	chr2:55073435-55073436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550976302	chr2:55073447-55073448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4613325	chr2:55073464-55073465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140505311	chr2:55073473-55073474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552409851	chr2:55073489-55073490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185972360	chr2:55073500-55073501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534482577	chr2:55073501-55073502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568782543	chr2:55073537-55073538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7594597	chr2:55073554-55073555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150394804	chr2:55073585-55073586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190882733	chr2:55073605-55073606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576725595	chr2:55073620-55073621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202110675	chr2:55073622-55073623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34903209	chr2:55073636-55073637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199700832	chr2:55073637-55073638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557545248	chr2:55073652-55073653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553594808	chr2:55073658-55073659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573496738	chr2:55073663-55073664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6745956	chr2:55073695-55073696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183340483	chr2:55073722-55073723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74624898	chr2:55073727-55073728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569678338	chr2:55073734-55073735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575807728	chr2:55073743-55073744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186158736	chr2:55073750-55073751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77979344	chr2:55073775-55073776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28650947	chr2:55073797-55073798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371805700	chr2:55073808-55073809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552211858	chr2:55073821-55073822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13029933	chr2:55073826-55073827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571557967	chr2:55073827-55073828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6746118	chr2:55073860-55073861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538955474	chr2:55073881-55073882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190815280	chr2:55073902-55073903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139243941	chr2:55073920-55073921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555170740	chr2:55073926-55073927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550609410	chr2:55073942-55073943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570367836	chr2:55073953-55073954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539388281	chr2:55073979-55073980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76584060	chr2:55074007-55074008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149391427	chr2:55074027-55074028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536094463	chr2:55074044-55074045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544144545	chr2:55074057-55074058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550909419	chr2:55074060-55074061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72113351	chr2:55074067-55074068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34352060	chr2:55074073-55074074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6756933	chr2:55074083-55074084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575870218	chr2:55074098-55074099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544396079	chr2:55074120-55074121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369171878	chr2:55074161-55074162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
XY gonadal dysgenesis	20685758	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55053400-55079000	Weak transcription	HepG2	liver
2	chr2:55066800-55084400	Weak transcription	HSMMtube	muscle
3	chr2:55066800-55088800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:55068400-55096200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:55070400-55077200	Weak transcription	NHEK	skin
8	chr2:55071200-55074600	Weak transcription	Pancreas	Pancrea
9	chr2:55072600-55091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:55073200-55075600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:55073400-55075600	Weak transcription	GM12878-XiMat	blood
12	chr2:55073400-55077600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:55073400-55080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:55073400-55093800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:55075600-55075800	Enhancers	GM12878-XiMat	blood
16	chr2:55075600-55076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:55075600-55076000	Enhancers	Osteobl	bone
18	chr2:55076400-55077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:55077200-55078000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:55077200-55078000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:55077200-55078000	Enhancers	HMEC	breast
22	chr2:55077200-55078200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:55077200-55078200	Enhancers	NHEK	skin
24	chr2:55078000-55082400	Weak transcription	HMEC	breast
25	chr2:55078000-55086400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:55078000-55087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:55078200-55087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
29	chr2:55079000-55079400	Enhancers	HepG2	liver
30	chr2:55079400-55082800	Weak transcription	HepG2	liver
31	chr2:55081400-55085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:55082200-55083000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:55082200-55083200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:55082400-55083000	Enhancers	HMEC	breast
36	chr2:55082400-55083400	Enhancers	HSMM	muscle
37	chr2:55082400-55083400	Enhancers	Osteobl	bone
38	chr2:55082400-55083600	Enhancers	NHDF-Ad	bronchial
39	chr2:55082600-55085000	Weak transcription	Hela-S3	cervix
40	chr2:55082800-55083000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:55082800-55083200	Enhancers	HepG2	liver
42	chr2:55083000-55084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:55083200-55084400	Weak transcription	HepG2	liver
44	chr2:55083200-55084800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:55083400-55085000	Weak transcription	Osteobl	bone
46	chr2:55083400-55086000	Weak transcription	HSMM	muscle
47	chr2:55083600-55085400	Weak transcription	NHDF-Ad	bronchial
48	chr2:55084400-55087000	Enhancers	HepG2	liver
49	chr2:55084400-55088800	Enhancers	HSMMtube	muscle
50	chr2:55084800-55085000	Enhancers	NH-A	brain

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