Variant report

Variant	nsv874094
Chromosome Location	chr2:52068507-52153668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 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	CEBPB	chr2:52118783-52118811	HepG2	liver:	n/a	chr2:52118792-52118803
2	CEBPB	chr2:52130917-52131217	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:52093449-52093880	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:52130909-52131253	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr2:52107350-52107669	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:52146418-52146943	Hela-S3	cervix:	n/a	chr2:52146442-52146455
7	CEBPB	chr2:52130915-52131235	MCF-7	breast:	n/a	n/a
8	CEBPB	chr2:52117644-52117838	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:52146526-52146921	IMR90	lung:	n/a	n/a
10	CEBPB	chr2:52145319-52145566	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:52104076-52104488	HCT-116	colon:	n/a	n/a
12	CEBPB	chr2:52126935-52126947	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:52130863-52131276	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr2:52145128-52145645	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:52130908-52131192	K562	blood:	n/a	n/a
16	CEBPB	chr2:52130905-52131200	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:52130970-52131211	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:52133005-52133191	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:52106555-52106796	HepG2	liver:	n/a	chr2:52106702-52106713
20	CEBPB	chr2:52130882-52131188	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:52104807-52104860	GM13977	blood:	n/a	n/a
22	CTCF	chr2:52147620-52147677	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:52136340-52136490	BJ	skin:	n/a	n/a
24	CTCF	chr2:52110501-52110617	Lung_OC	lung:	n/a	n/a
25	E2F4	chr2:52146560-52146862	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr2:52145310-52145632	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr2:52134700-52134881	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr2:52068684-52068928	GM12878	blood:	n/a	chr2:52068777-52068788
29	EP300	chr2:52145361-52145722	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr2:52146490-52147051	SK-N-SH	brain:	n/a	chr2:52146546-52146560 chr2:52146957-52146966 chr2:52146953-52146967
31	EP300	chr2:52113327-52113782	ECC-1	luminal epithelium:	n/a	chr2:52113677-52113691
32	EP300	chr2:52094932-52095504	ECC-1	luminal epithelium:	n/a	chr2:52094950-52094964
33	EP300	chr2:52146524-52146950	Hela-S3	cervix:	n/a	chr2:52146546-52146560
34	EP300	chr2:52136627-52136764	GM12878	blood:	n/a	chr2:52136708-52136722
35	EP300	chr2:52095081-52095416	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr2:52145425-52145720	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr2:52145287-52145617	Hela-S3	cervix:	n/a	n/a
38	ESR1	chr2:52095088-52095361	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr2:52095207-52095461	ECC-1	luminal epithelium:	n/a	n/a
40	FOS	chr2:52145203-52145661	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr2:52093521-52093825	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:52145203-52145685	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:52093514-52093873	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:52145142-52145643	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:52146416-52147307	MCF10A-Er-Src	breast:	n/a	chr2:52146955-52146964
46	FOS	chr2:52146424-52146945	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:52146524-52146932	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:52145175-52145621	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:52146443-52146946	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:52146547-52146869	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51745267-51754233..2:52106672-52112664	GM12878	blood:
2	2:51664217-51674289..2:52112664-52117037	K562	blood:
3	chr11:63952383..63953021-chr2:52077502..52078002,2	Hela-S3	cervix:
4	chr2:52097711..52099315-chr2:52104533..52106401,2	K562	blood:
5	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
6	2:51785137-51786126..2:52106672-52112664	GM12878	blood:
7	chr2:52063384..52066305-chr2:52068038..52070794,3	K562	blood:
8	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
9	chr2:52069239..52070064-chr8:36656303..36657160,2	MCF-7	breast:
10	2:52132828-52140118..2:52144960-52145427	GM12878	blood:
11	2:51675236-51679533..2:52132828-52140118	GM12878	blood:
12	2:52132828-52140118..2:52144960-52145427	GM12878	blood:
13	chr2:52097711..52099315-chr2:52104533..52106401,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:52088587-52088626	ENSG00000231918.1

No data

Variant related genes	Relation type
ENSG00000230840	TF binding region
ENSG00000168439	chromatin interactions

Extended variants
information (count: 1121 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1121 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1435805	chr2:52068507-52068508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539433831	chr2:52068520-52068521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558049131	chr2:52068522-52068523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535752231	chr2:52068535-52068536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374366095	chr2:52068536-52068537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573026567	chr2:52068588-52068589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1435804	chr2:52071214-52071215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536613551	chr2:52071230-52071231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566859811	chr2:52071243-52071244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142645713	chr2:52071247-52071248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150618080	chr2:52071293-52071294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549254878	chr2:52071380-52071381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192296341	chr2:52071392-52071393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536284024	chr2:52071404-52071405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10201204	chr2:52071440-52071441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs369961537	chr2:52071472-52071473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140020442	chr2:52071482-52071483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1347491	chr2:52071531-52071532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143749153	chr2:52071613-52071614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34219433	chr2:52071683-52071684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28949922	chr2:52071692-52071693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565037806	chr2:52071702-52071703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532395897	chr2:52071749-52071750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116615004	chr2:52071752-52071753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs992187	chr2:52071784-52071785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116476104	chr2:52071811-52071812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570417064	chr2:52071818-52071819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386646062	chr2:52071838-52071839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs992186	chr2:52071839-52071840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552839697	chr2:52071892-52071893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374227935	chr2:52071894-52071895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558135723	chr2:52071897-52071898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552108873	chr2:52071914-52071915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570340822	chr2:52071932-52071933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572868559	chr2:52071949-52071950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541882760	chr2:52071953-52071954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555679972	chr2:52071959-52071960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572713922	chr2:52071964-52071965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113967102	chr2:52072008-52072009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536810868	chr2:52072018-52072019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555124200	chr2:52072063-52072064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576559844	chr2:52072084-52072085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575634656	chr2:52072111-52072112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543462266	chr2:52072113-52072114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146810285	chr2:52072158-52072159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369342889	chr2:52072199-52072200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554448779	chr2:52077548-52077549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192369084	chr2:52077549-52077550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536775103	chr2:52077572-52077573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554753313	chr2:52077580-52077581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52054200-52068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:52071200-52072200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:52071400-52072000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:52071400-52072200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:52071600-52072200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:52071600-52072200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:52107000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:52108000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:52112800-52114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:52115400-52115800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:52115600-52115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:52115800-52129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:52116000-52116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:52116800-52117200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:52127000-52127400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:52136000-52136400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:52136000-52136600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:52144600-52145600	Enhancers	NHDF-Ad	bronchial
19	chr2:52144600-52147800	Enhancers	Osteobl	bone
20	chr2:52144800-52146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:52144800-52146600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:52144800-52147400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:52144800-52147600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:52144800-52148000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:52145000-52145600	Enhancers	Adipose Nuclei	Adipose
26	chr2:52145400-52146600	Enhancers	HMEC	breast
27	chr2:52145600-52146200	Weak transcription	NHDF-Ad	bronchial
28	chr2:52146200-52147200	Enhancers	NHDF-Ad	bronchial
29	chr2:52146400-52146600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:52146400-52148200	Enhancers	Hela-S3	cervix
31	chr2:52146600-52147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:52147000-52147400	Enhancers	NHLF	lung
33	chr2:52147600-52147800	Enhancers	Adipose Nuclei	Adipose
34	chr2:52147600-52148200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:52147800-52151400	Weak transcription	Osteobl	bone
36	chr2:52151400-52151600	ZNF genes & repeats	Osteobl	bone

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