Variant report

Variant	esv2760608
Chromosome Location	chr2:77790599-77833745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:77832125-77832532	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:77793763-77794055	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:77832211-77832570	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:77802542-77802758	A549	lung:	n/a	chr2:77802613-77802624
5	CEBPB	chr2:77832262-77832460	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:77793743-77794023	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:77805466-77805710	A549	lung:	n/a	chr2:77805548-77805559
8	CEBPB	chr2:77802518-77802724	HepG2	liver:	n/a	chr2:77802613-77802624
9	CEBPB	chr2:77831047-77831112	HepG2	liver:	n/a	chr2:77831053-77831064 chr2:77831053-77831066
10	CEBPB	chr2:77805386-77805678	H1-hESC	embryonic stem cell:	n/a	chr2:77805548-77805559
11	CEBPB	chr2:77805397-77805727	HepG2	liver:	n/a	chr2:77805548-77805559
12	CEBPB	chr2:77807779-77808019	HepG2	liver:	n/a	chr2:77807874-77807885
13	CEBPB	chr2:77805372-77805748	Hela-S3	cervix:	n/a	chr2:77805548-77805559
14	CTCF	chr2:77793835-77793852	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr2:77802940-77803090	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr2:77803136-77803229	Spleen_OC	spleen:	n/a	n/a
17	E2F4	chr2:77796018-77796104	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr2:77832380-77832471	HepG2	liver:	n/a	n/a
19	EP300	chr2:77832008-77832560	HepG2	liver:	n/a	n/a
20	EP300	chr2:77793743-77794077	HepG2	liver:	n/a	n/a
21	EP300	chr2:77832033-77832548	HepG2	liver:	n/a	n/a
22	FOSL2	chr2:77793619-77794063	HepG2	liver:	n/a	n/a
23	FOSL2	chr2:77793632-77794139	HepG2	liver:	n/a	n/a
24	FOXA1	chr2:77831963-77832523	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
25	FOXA1	chr2:77793589-77794187	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:77831995-77832592	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
27	FOXA1	chr2:77793720-77794103	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:77793739-77794116	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:77831872-77832583	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
30	FOXA1	chr2:77793604-77794109	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:77820182-77820499	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:77831950-77832536	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
33	FOXA2	chr2:77832022-77832472	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
34	FOXA2	chr2:77820267-77820581	A549	lung:	n/a	n/a
35	FOXA2	chr2:77831551-77832817	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
36	FOXA2	chr2:77793769-77794062	HepG2	liver:	n/a	n/a
37	FOXA2	chr2:77820282-77820439	HepG2	liver:	n/a	n/a
38	FOXA2	chr2:77820037-77820782	A549	lung:	n/a	n/a
39	FOXP2	chr2:77805448-77805724	SK-N-MC	brain:	n/a	n/a
40	HEY1	chr2:77820183-77820391	K562	blood:	n/a	n/a
41	HNF4A	chr2:77793713-77793968	HepG2	liver:	n/a	n/a
42	HNF4A	chr2:77793770-77794090	HepG2	liver:	n/a	n/a
43	JUN	chr2:77813943-77814143	K562	blood:	n/a	n/a
44	JUN	chr2:77793745-77794045	HepG2	liver:	n/a	n/a
45	JUND	chr2:77793724-77794054	HepG2	liver:	n/a	chr2:77793872-77793883
46	JUND	chr2:77793762-77794010	HepG2	liver:	n/a	chr2:77793872-77793883
47	KAP1	chr2:77805335-77805959	U2OS	brain:	n/a	n/a
48	KAP1	chr2:77816148-77817204	HEK293	kidney:	n/a	n/a
49	KAP1	chr2:77794601-77795522	HEK293	kidney:	n/a	n/a
50	KAP1	chr2:77832924-77833186	U2OS	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:77820248-77820298	H1-hESC	embryonic stem cell:	embryo
2	chr2:77820248-77820298	HCPEpiC	choroid plexus:	n/a
3	chr2:77820248-77820298	PANC-1	pancreas:	n/a
4	chr2:77820248-77820298	HCF	heart:	n/a
5	chr2:77820248-77820298	BE2_C	brain:	n/a
6	chr2:77820248-77820298	NH-A	brain:	n/a
7	chr2:77820248-77820298	MCF-7	breast:	n/a
8	chr2:77820248-77820298	NT2-D1	testis:	n/a
9	chr2:77820248-77820298	HRE	kidney:	n/a
10	chr2:77820248-77820298	AoSMC	blood vessel:	n/a
11	chr2:77820248-77820298	HMEC	breast:	n/a
12	chr2:77820248-77820298	PrEC	prostate:	n/a
13	chr2:77820248-77820298	HepG2	liver:	n/a
14	chr2:77820248-77820298	AG09319	gingival:	n/a
15	chr2:77820248-77820298	MCF10A-Er-Src	breast:	n/a
16	chr2:77820248-77820298	HIPEpiC	eye:	n/a
17	chr2:77820248-77820298	HUVEC	blood vessel:	n/a
18	chr2:77820248-77820298	HCM	heart:	n/a
19	chr2:77820248-77820298	HEK293	kidney:	embryo
20	chr2:77820248-77820298	HRPEpiC	eye:	n/a
21	chr2:77820248-77820298	RPTEC	kidney:	n/a
22	chr2:77820248-77820298	Hela-S3	cervix:	n/a
23	chr2:77820248-77820298	ECC-1	luminal epithelium:	n/a
24	chr2:77820248-77820298	GM06990	blood:	n/a
25	chr2:77820248-77820298	BJ	skin:	n/a
26	chr2:77820248-77820298	K562	blood:	n/a
27	chr2:77820248-77820298	GM12878	blood:	n/a
28	chr2:77820248-77820298	LNCaP	prostate:	n/a
29	chr2:77820248-77820298	HEEpiC	esophagus:	n/a
30	chr2:77820248-77820298	A549	lung:	n/a
31	chr2:77820248-77820298	SKMC	muscle:	n/a
32	chr2:77820248-77820298	NHBE	bronchial:	n/a
33	chr2:77820248-77820298	SK-N-SH	brain:	n/a
34	chr2:77820248-77820298	IMR90	lung:	fetal
35	chr2:77820248-77820298	HL-60	blood:	n/a
36	chr2:77820248-77820298	GM12891	blood:	n/a
37	chr2:77820248-77820298	SAEC	small airway:	n/a
38	chr2:77820248-77820298	GM12892	blood:	n/a
39	chr2:77820248-77820298	ProgFib	skin:	n/a
40	chr2:77820248-77820298	NHDF-neo	bronchial:	n/a
41	chr2:77820248-77820298	NB4	blood:	n/a
42	chr2:77820248-77820298	U87	brain:	n/a
43	chr2:77820248-77820298	SK-N-SH_RA	brain:	n/a
44	chr2:77820248-77820298	CMK	blood:	n/a
45	chr2:77820248-77820298	AG10803	skin:	n/a
46	chr2:77820248-77820298	HCT-116	colon:	n/a
47	chr2:77820248-77820298	SK-N-MC	brain:	n/a
48	chr2:77820248-77820298	PFSK-1	brain:	n/a
49	chr2:77820248-77820298	HRCEpiC	kidney:	n/a
50	chr2:77820248-77820298	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:74349617..74350377-chr2:77809788..77810706,2	HCT-116	colon:
2	chr2:77794457..77797155-chr2:77797930..77800616,2	K562	blood:
3	chr2:77833265..77836018-chr2:77837658..77839973,2	MCF-7	breast:
4	chr2:77794457..77797155-chr2:77797930..77800616,2	K562	blood:

No data

Variant related genes	Relation type
LRRTM4	TF binding region
LRRTM4	CpG island
ENSG00000161542	chromatin interactions

Extended variants
information (count: 1332 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34705852	chr2:77791802-77791803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs398080365	chr2:77791812-77791813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397873014	chr2:77791813-77791814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564059585	chr2:77791817-77791818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562491661	chr2:77791849-77791850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138803534	chr2:77791867-77791868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546596598	chr2:77791868-77791869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566845580	chr2:77791885-77791886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62159532	chr2:77791908-77791909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532860182	chr2:77791926-77791927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62159533	chr2:77791943-77791944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141990261	chr2:77791948-77791949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191619536	chr2:77791958-77791959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569527360	chr2:77791970-77791971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184199171	chr2:77792259-77792260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572829418	chr2:77792291-77792292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74702510	chr2:77792318-77792319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78353173	chr2:77792349-77792350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78919952	chr2:77792371-77792372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544004286	chr2:77792404-77792405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563996142	chr2:77792405-77792406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548742046	chr2:77792483-77792484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192246403	chr2:77792500-77792501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138493485	chr2:77792502-77792503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13407007	chr2:77792519-77792520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560566357	chr2:77792529-77792530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13432253	chr2:77792544-77792545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13406838	chr2:77792562-77792563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569275465	chr2:77792575-77792576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185598815	chr2:77792605-77792606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552013318	chr2:77792660-77792661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62159534	chr2:77792661-77792662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190516925	chr2:77792674-77792675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552678192	chr2:77792677-77792678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538241046	chr2:77792686-77792687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376514694	chr2:77792727-77792728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180851781	chr2:77792746-77792747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185771063	chr2:77792769-77792770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142283751	chr2:77792832-77792833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575479495	chr2:77792833-77792834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76164800	chr2:77792837-77792838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398090419	chr2:77792838-77792839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575002837	chr2:77792862-77792863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72925921	chr2:77792863-77792864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143084513	chr2:77792901-77792902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577496372	chr2:77792906-77792907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540171985	chr2:77793036-77793037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560204368	chr2:77793074-77793075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146141008	chr2:77793100-77793101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568924781	chr2:77793104-77793105	Weak transcription 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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77791800-77792000	Enhancers	Pancreas	Pancrea
2	chr2:77792200-77793200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77792800-77795400	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:77793000-77793600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:77793000-77793800	Enhancers	Fetal Lung	lung
6	chr2:77793000-77794000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:77793000-77794200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:77793200-77793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:77793200-77794000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:77793200-77794200	Enhancers	HepG2	liver
11	chr2:77793200-77795200	Enhancers	Liver	Liver
12	chr2:77793200-77795600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:77793200-77796000	Enhancers	Fetal Intestine Small	intestine
14	chr2:77793200-77796200	Enhancers	Fetal Intestine Large	intestine
15	chr2:77793400-77794000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:77793600-77795600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr2:77793800-77794200	Enhancers	Adipose Nuclei	Adipose
18	chr2:77793800-77794600	Weak transcription	Fetal Lung	lung
19	chr2:77794000-77795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:77794200-77794600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:77794600-77794800	Active TSS	Fetal Lung	lung
22	chr2:77794600-77795200	Enhancers	Adipose Nuclei	Adipose
23	chr2:77794800-77795000	Flanking Active TSS	Fetal Lung	lung
24	chr2:77795000-77795600	Active TSS	Fetal Lung	lung
25	chr2:77795200-77795400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:77802400-77802600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:77802800-77804200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:77803400-77804200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:77804200-77804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:77804200-77807400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:77804600-77804800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:77804800-77805600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:77805200-77806000	Enhancers	Liver	Liver
34	chr2:77805600-77806000	Enhancers	Adipose Nuclei	Adipose
35	chr2:77805600-77806000	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:77805600-77806000	Enhancers	HepG2	liver
37	chr2:77805600-77806400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:77807400-77816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:77807800-77808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:77808000-77808200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:77808200-77820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:77816400-77817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:77816600-77816800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr2:77816600-77816800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:77816600-77817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:77816600-77817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:77816600-77817600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:77816800-77817800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:77816800-77819400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:77816800-77819400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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