Variant report

Variant	esv2759064
Chromosome Location	chr2:76541920-76705354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:589)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:76642961-76643286	K562	blood:	n/a	n/a
2	ATF1	chr2:76664827-76665052	K562	blood:	n/a	n/a
3	ATF2	chr2:76642905-76643310	GM12878	blood:	n/a	n/a
4	ATF2	chr2:76642934-76643260	GM12878	blood:	n/a	n/a
5	ATF3	chr2:76664748-76664995	K562	blood:	n/a	n/a
6	BACH1	chr2:76568695-76568836	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:76568754-76568868	K562	blood:	n/a	n/a
8	BATF	chr2:76643008-76643306	GM12878	blood:	n/a	n/a
9	BATF	chr2:76677312-76677682	GM12878	blood:	n/a	chr2:76677532-76677543
10	BATF	chr2:76672257-76672566	GM12878	blood:	n/a	n/a
11	BATF	chr2:76643007-76643384	GM12878	blood:	n/a	n/a
12	BATF	chr2:76677367-76677642	GM12878	blood:	n/a	chr2:76677532-76677543
13	BCL11A	chr2:76672342-76672514	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:76677294-76677677	GM12878	blood:	n/a	chr2:76677532-76677541 chr2:76677531-76677540
15	BCL11A	chr2:76677273-76677669	GM12878	blood:	n/a	chr2:76677532-76677541 chr2:76677531-76677540
16	BHLHE40	chr2:76674678-76674702	GM12878	blood:	n/a	n/a
17	BHLHE40	chr2:76677028-76677791	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:76672988-76673427	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:76643093-76643348	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:76649958-76650137	A549	lung:	n/a	n/a
21	CBX3	chr2:76672324-76672575	K562	blood:	n/a	n/a
22	CCNT2	chr2:76618982-76619182	K562	blood:	n/a	n/a
23	CEBPB	chr2:76639504-76639817	A549	lung:	n/a	n/a
24	CEBPB	chr2:76639550-76639796	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:76634642-76634875	K562	blood:	n/a	chr2:76634741-76634752
26	CEBPB	chr2:76677879-76678560	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:76541404-76542281	Hela-S3	cervix:	n/a	chr2:76541597-76541610
28	CEBPB	chr2:76541360-76542137	MCF-7	breast:	n/a	chr2:76541597-76541610
29	CEBPB	chr2:76639457-76639746	K562	blood:	n/a	n/a
30	CEBPB	chr2:76615598-76615690	HepG2	liver:	n/a	chr2:76615638-76615649
31	CEBPB	chr2:76671548-76671857	A549	lung:	n/a	chr2:76671686-76671699
32	CEBPB	chr2:76639471-76639814	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:76614439-76614789	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr2:76614491-76614776	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:76681877-76682114	A549	lung:	n/a	chr2:76681975-76681986
36	CEBPB	chr2:76664717-76665096	K562	blood:	n/a	chr2:76664885-76664896
37	CEBPB	chr2:76648192-76648350	HepG2	liver:	n/a	chr2:76648248-76648259
38	CEBPB	chr2:76681837-76682151	HepG2	liver:	n/a	chr2:76681975-76681986
39	CEBPB	chr2:76649651-76650021	A549	lung:	n/a	n/a
40	CEBPB	chr2:76677893-76678050	A549	lung:	n/a	n/a
41	CEBPB	chr2:76634621-76634904	HepG2	liver:	n/a	chr2:76634741-76634752
42	CEBPB	chr2:76664751-76665017	HepG2	liver:	n/a	chr2:76664885-76664896
43	CEBPB	chr2:76639486-76639793	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:76671535-76671853	HepG2	liver:	n/a	chr2:76671686-76671699
45	CHD1	chr2:76674597-76674742	GM12878	blood:	n/a	n/a
46	CHD1	chr2:76691539-76691643	GM12878	blood:	n/a	n/a
47	CHD2	chr2:76692627-76692630	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr2:76588861-76588873	HepG2	liver:	n/a	n/a
49	CHD2	chr2:76678041-76678047	GM12878	blood:	n/a	n/a
50	CHD2	chr2:76634762-76635104	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76672386-76672436	PANC-1	pancreas:	n/a
2	chr2:76672386-76672436	K562	blood:	n/a
3	chr2:76674458-76674508	NHBE	bronchial:	n/a
4	chr2:76674458-76674508	BE2_C	brain:	n/a
5	chr2:76674458-76674508	U87	brain:	n/a
6	chr2:76674458-76674508	SKMC	muscle:	n/a
7	chr2:76674458-76674508	AG04450	lung:	fetal
8	chr2:76674458-76674508	HIPEpiC	eye:	n/a
9	chr2:76674458-76674508	ovcar-3	ovarian:	n/a
10	chr2:76674458-76674508	ECC-1	luminal epithelium:	n/a
11	chr2:76672386-76672436	SK-N-SH	brain:	n/a
12	chr2:76674458-76674508	AG09319	gingival:	n/a
13	chr2:76674458-76674508	HCF	heart:	n/a
14	chr2:76672386-76672436	SAEC	small airway:	n/a
15	chr2:76674458-76674508	PrEC	prostate:	n/a
16	chr2:76674458-76674508	T-47D	breast:	n/a
17	chr2:76674458-76674508	SK-N-MC	brain:	n/a
18	chr2:76672386-76672436	AG09319	gingival:	n/a
19	chr2:76674458-76674508	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:76672386-76672436	H1-hESC	embryonic stem cell:	embryo
21	chr2:76672386-76672436	HCT-116	colon:	n/a
22	chr2:76672386-76672436	HMEC	breast:	n/a
23	chr2:76674458-76674508	GM19239	blood:	n/a
24	chr2:76674458-76674508	HL-60	blood:	n/a
25	chr2:76672386-76672436	AG09309	skin:	n/a
26	chr2:76672386-76672436	ProgFib	skin:	n/a
27	chr2:76672386-76672436	NHBE	bronchial:	n/a
28	chr2:76672386-76672436	AG04449	skin:	fetal
29	chr2:76674458-76674508	AG10803	skin:	n/a
30	chr2:76672386-76672436	Hela-S3	cervix:	n/a
31	chr2:76672386-76672436	MCF-7	breast:	n/a
32	chr2:76674458-76674508	NT2-D1	testis:	n/a
33	chr2:76672386-76672436	AG04450	lung:	fetal
34	chr2:76672386-76672436	AG10803	skin:	n/a
35	chr2:76674458-76674508	HRPEpiC	eye:	n/a
36	chr2:76674458-76674508	SK-N-SH	brain:	n/a
37	chr2:76672386-76672436	GM12878	blood:	n/a
38	chr2:76672386-76672436	Hepatocyte	liver:	n/a
39	chr2:76674458-76674508	AG09309	skin:	n/a
40	chr2:76672386-76672436	HEEpiC	esophagus:	n/a
41	chr2:76674458-76674508	Jurkat	blood:	n/a
42	chr2:76674458-76674508	NHDF-neo	bronchial:	n/a
43	chr2:76672386-76672436	U87	brain:	n/a
44	chr2:76674458-76674508	HEK293	kidney:	embryo
45	chr2:76672386-76672436	BJ	skin:	n/a
46	chr2:76672386-76672436	IMR90	lung:	fetal
47	chr2:76674458-76674508	HUVEC	blood vessel:	n/a
48	chr2:76674458-76674508	HRCEpiC	kidney:	n/a
49	chr2:76672386-76672436	NT2-D1	testis:	n/a
50	chr2:76674458-76674508	A549	lung:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:
2	chr2:76622373..76624695-chr2:76629073..76631639,2	K562	blood:
3	chr2:76615182..76615716-chr4:38819540..38820084,2	MCF-7	breast:
4	chr2:76542822..76545873-chr2:76546426..76549641,3	K562	blood:
5	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:
6	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
7	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
8	chr2:76622373..76624695-chr2:76629073..76631639,2	K562	blood:
9	chr15:80860013..80860777-chr2:76680632..76681152,2	MCF-7	breast:
10	chr2:76594575..76597450-chr2:76598327..76600856,3	K562	blood:
11	chr2:76593394..76597450-chr2:76597715..76600856,5	K562	blood:
12	chr2:76545602..76547142-chr2:76580181..76582795,2	K562	blood:

No data

Variant related genes	Relation type
RN7SKP203	TF binding region
RN7SKP203	CpG island

Extended variants
information (count: 3637 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3637 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376597917	chr2:76541951-76541952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547925487	chr2:76541961-76541962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559692036	chr2:76541962-76541963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2860736	chr2:76541986-76541987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548874920	chr2:76541997-76541998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377201375	chr2:76542007-76542008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570084487	chr2:76542016-76542017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62163963	chr2:76542022-76542023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1358181	chr2:76542056-76542057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1358180	chr2:76542072-76542073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570876759	chr2:76542073-76542074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140348329	chr2:76542087-76542088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6704943	chr2:76542095-76542096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78704119	chr2:76542145-76542146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535389252	chr2:76542173-76542174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556809270	chr2:76542245-76542246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1358179	chr2:76542255-76542256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144074719	chr2:76542318-76542319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557572175	chr2:76542334-76542335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6718886	chr2:76542338-76542339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1358178	chr2:76542362-76542363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560026169	chr2:76542364-76542365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567255198	chr2:76543841-76543842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147100442	chr2:76543851-76543852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181234207	chr2:76543899-76543900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575810673	chr2:76543940-76543941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544705780	chr2:76543960-76543961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539605802	chr2:76543993-76543994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80295178	chr2:76544007-76544008	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138470033	chr2:76544023-76544024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540517785	chr2:76544040-76544041	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561782352	chr2:76544086-76544087	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573679502	chr2:76544131-76544132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544325602	chr2:76544194-76544195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577886151	chr2:76544209-76544210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185806543	chr2:76544220-76544221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373725813	chr2:76544265-76544266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143559950	chr2:76544282-76544283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560283864	chr2:76544296-76544297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190622628	chr2:76544323-76544324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4853224	chr2:76544360-76544361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567292202	chr2:76544377-76544378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150530271	chr2:76544413-76544414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549850770	chr2:76544417-76544418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4853225	chr2:76544421-76544422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538716575	chr2:76544436-76544437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183067044	chr2:76544528-76544529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551902821	chr2:76544543-76544544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139473886	chr2:76544584-76544585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115069282	chr2:76544591-76544592	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76537000-76542400	Enhancers	Hela-S3	cervix
2	chr2:76543800-76544000	Enhancers	Fetal Heart	heart
3	chr2:76543800-76544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:76544000-76544200	Flanking Active TSS	Fetal Heart	heart
5	chr2:76544000-76544400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:76544200-76544600	Enhancers	Fetal Heart	heart
7	chr2:76544600-76546000	Weak transcription	Fetal Heart	heart
8	chr2:76546000-76546400	Enhancers	Fetal Heart	heart
9	chr2:76549600-76551200	Enhancers	Fetal Brain Male	brain
10	chr2:76550200-76551200	Enhancers	Fetal Brain Female	brain
11	chr2:76550600-76551000	Enhancers	Hela-S3	cervix
12	chr2:76551200-76552800	Weak transcription	Fetal Brain Male	brain
13	chr2:76552800-76553000	Enhancers	Fetal Brain Male	brain
14	chr2:76557000-76557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:76577800-76578800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:76578400-76579200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr2:76578800-76584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:76579200-76581600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:76580600-76582200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:76581000-76581400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:76581600-76582000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:76581600-76582000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:76584000-76584800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:76584200-76584600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:76584600-76584800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr2:76584800-76586600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:76595800-76596000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:76596000-76604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:76604600-76604800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:76604800-76605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:76605800-76606200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:76607200-76609200	Enhancers	Fetal Heart	heart
33	chr2:76613000-76613600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:76618200-76619800	Enhancers	Fetal Heart	heart
35	chr2:76618400-76619200	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:76618400-76619400	Enhancers	HepG2	liver
37	chr2:76618600-76619200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:76618600-76619200	Enhancers	Small Intestine	intestine
39	chr2:76618600-76619200	Enhancers	Stomach Mucosa	stomach
40	chr2:76618600-76619400	Enhancers	Fetal Intestine Small	intestine
41	chr2:76618800-76619400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:76619200-76624400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:76619400-76624200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:76621800-76624200	Weak transcription	Gastric	stomach
45	chr2:76622400-76622800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:76622800-76623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:76623000-76624200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:76624200-76624400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:76624200-76625400	Enhancers	Fetal Intestine Small	intestine
50	chr2:76624400-76624600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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