Variant report

Variant	nsv458330
Chromosome Location	chr2:77782840-77848881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 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	chr2:77805372-77805748	Hela-S3	cervix:	n/a	chr2:77805548-77805559
5	CEBPB	chr2:77805386-77805678	H1-hESC	embryonic stem cell:	n/a	chr2:77805548-77805559
6	CEBPB	chr2:77805466-77805710	A549	lung:	n/a	chr2:77805548-77805559
7	CEBPB	chr2:77832262-77832460	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:77835791-77835913	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:77793743-77794023	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:77831047-77831112	HepG2	liver:	n/a	chr2:77831053-77831064 chr2:77831053-77831066
11	CEBPB	chr2:77802518-77802724	HepG2	liver:	n/a	chr2:77802613-77802624
12	CEBPB	chr2:77802542-77802758	A549	lung:	n/a	chr2:77802613-77802624
13	CEBPB	chr2:77807779-77808019	HepG2	liver:	n/a	chr2:77807874-77807885
14	CEBPB	chr2:77805397-77805727	HepG2	liver:	n/a	chr2:77805548-77805559
15	CTCF	chr2:77803136-77803229	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr2:77847268-77847327	GM20000	blood:	n/a	n/a
17	CTCF	chr2:77786130-77786161	GM10248	blood:	n/a	n/a
18	CTCF	chr2:77793835-77793852	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr2:77802940-77803090	NHDF-neo	bronchial:	n/a	n/a
20	E2F4	chr2:77796018-77796104	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr2:77793743-77794077	HepG2	liver:	n/a	n/a
22	EP300	chr2:77832380-77832471	HepG2	liver:	n/a	n/a
23	EP300	chr2:77832033-77832548	HepG2	liver:	n/a	n/a
24	EP300	chr2:77832008-77832560	HepG2	liver:	n/a	n/a
25	FOS	chr2:77783981-77784106	MCF10A-Er-Src	breast:	n/a	n/a
26	FOSL2	chr2:77793619-77794063	HepG2	liver:	n/a	n/a
27	FOSL2	chr2:77793632-77794139	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:77831995-77832592	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
29	FOXA1	chr2:77831872-77832583	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
30	FOXA1	chr2:77793589-77794187	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:77793739-77794116	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:77793604-77794109	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:77820182-77820499	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:77831950-77832536	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
35	FOXA1	chr2:77831963-77832523	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
36	FOXA1	chr2:77793720-77794103	HepG2	liver:	n/a	n/a
37	FOXA2	chr2:77820282-77820439	HepG2	liver:	n/a	n/a
38	FOXA2	chr2:77832022-77832472	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
39	FOXA2	chr2:77820267-77820581	A549	lung:	n/a	n/a
40	FOXA2	chr2:77793769-77794062	HepG2	liver:	n/a	n/a
41	FOXA2	chr2:77820037-77820782	A549	lung:	n/a	n/a
42	FOXA2	chr2:77831551-77832817	HepG2	liver:	n/a	chr2:77832215-77832227 chr2:77832137-77832149
43	FOXP2	chr2:77805448-77805724	SK-N-MC	brain:	n/a	n/a
44	GATA3	chr2:77848856-77849048	SH-SY5Y	brain:	n/a	n/a
45	HEY1	chr2:77820183-77820391	K562	blood:	n/a	n/a
46	HNF4A	chr2:77793713-77793968	HepG2	liver:	n/a	n/a
47	HNF4A	chr2:77793770-77794090	HepG2	liver:	n/a	n/a
48	JUN	chr2:77813943-77814143	K562	blood:	n/a	n/a
49	JUN	chr2:77793745-77794045	HepG2	liver:	n/a	n/a
50	JUND	chr2:77793762-77794010	HepG2	liver:	n/a	chr2:77793872-77793883

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:77820248-77820298	ProgFib	skin:	n/a
2	chr2:77820248-77820298	K562	blood:	n/a
3	chr2:77820248-77820298	HAEpiC	amniotic membrane:	n/a
4	chr2:77820248-77820298	H1-hESC	embryonic stem cell:	embryo
5	chr2:77820248-77820298	Caco-2	colon:	n/a
6	chr2:77820248-77820298	NH-A	brain:	n/a
7	chr2:77820248-77820298	HRCEpiC	kidney:	n/a
8	chr2:77820248-77820298	Hela-S3	cervix:	n/a
9	chr2:77820248-77820298	SK-N-SH	brain:	n/a
10	chr2:77820248-77820298	LNCaP	prostate:	n/a
11	chr2:77820248-77820298	GM19239	blood:	n/a
12	chr2:77820248-77820298	PANC-1	pancreas:	n/a
13	chr2:77820248-77820298	SK-N-MC	brain:	n/a
14	chr2:77820248-77820298	ovcar-3	ovarian:	n/a
15	chr2:77820248-77820298	GM12891	blood:	n/a
16	chr2:77820248-77820298	IMR90	lung:	fetal
17	chr2:77820248-77820298	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:77820248-77820298	AG09319	gingival:	n/a
19	chr2:77820248-77820298	AG09309	skin:	n/a
20	chr2:77820248-77820298	HMEC	breast:	n/a
21	chr2:77820248-77820298	SKMC	muscle:	n/a
22	chr2:77820248-77820298	AG04449	skin:	fetal
23	chr2:77820248-77820298	HL-60	blood:	n/a
24	chr2:77820248-77820298	PFSK-1	brain:	n/a
25	chr2:77820248-77820298	HRE	kidney:	n/a
26	chr2:77820248-77820298	A549	lung:	n/a
27	chr2:77820248-77820298	HCT-116	colon:	n/a
28	chr2:77820248-77820298	NT2-D1	testis:	n/a
29	chr2:77820248-77820298	MCF-7	breast:	n/a
30	chr2:77820248-77820298	Jurkat	blood:	n/a
31	chr2:77820248-77820298	HCPEpiC	choroid plexus:	n/a
32	chr2:77820248-77820298	MCF10A-Er-Src	breast:	n/a
33	chr2:77820248-77820298	CMK	blood:	n/a
34	chr2:77820248-77820298	U87	brain:	n/a
35	chr2:77820248-77820298	NB4	blood:	n/a
36	chr2:77820248-77820298	GM12892	blood:	n/a
37	chr2:77820248-77820298	RPTEC	kidney:	n/a
38	chr2:77820248-77820298	AoSMC	blood vessel:	n/a
39	chr2:77820248-77820298	HNPCEpiC	eye:	n/a
40	chr2:77820248-77820298	SK-N-SH_RA	brain:	n/a
41	chr2:77820248-77820298	HEEpiC	esophagus:	n/a
42	chr2:77820248-77820298	HRPEpiC	eye:	n/a
43	chr2:77820248-77820298	HEK293	kidney:	embryo
44	chr2:77820248-77820298	HCM	heart:	n/a
45	chr2:77820248-77820298	HUVEC	blood vessel:	n/a
46	chr2:77820248-77820298	AG10803	skin:	n/a
47	chr2:77820248-77820298	NHDF-neo	bronchial:	n/a
48	chr2:77820248-77820298	HIPEpiC	eye:	n/a
49	chr2:77820248-77820298	HepG2	liver:	n/a
50	chr2:77820248-77820298	PrEC	prostate:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:77794457..77797155-chr2:77797930..77800616,2	K562	blood:
2	chr2:77833265..77836018-chr2:77837658..77839973,2	MCF-7	breast:
3	chr2:77833883..77835543-chr2:77837670..77840066,2	K562	blood:
4	chr2:77794457..77797155-chr2:77797930..77800616,2	K562	blood:
5	chr2:77833883..77835543-chr2:77837670..77840066,2	K562	blood:
6	chr17:74349617..74350377-chr2:77809788..77810706,2	HCT-116	colon:
7	chr2:77833265..77836018-chr2:77837658..77839973,2	MCF-7	breast:

No data

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

Extended variants
information (count: 1462 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538005991	chr2:77786032-77786033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564037426	chr2:77786081-77786082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531643949	chr2:77786082-77786083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs534544536	chr2:77786104-77786105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550000818	chr2:77786113-77786114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552989226	chr2:77786155-77786156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184741707	chr2:77786211-77786212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12612081	chr2:77786215-77786216	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115897071	chr2:77786221-77786222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535679611	chr2:77786231-77786232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116259935	chr2:77786237-77786238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6711151	chr2:77786252-77786253	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533038810	chr2:77786265-77786266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74321244	chr2:77786269-77786270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114485663	chr2:77786291-77786292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79719978	chr2:77786292-77786293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79054215	chr2:77786303-77786304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12612119	chr2:77786338-77786339	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78459294	chr2:77786343-77786344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557743006	chr2:77786362-77786363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549360203	chr2:77786385-77786386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs12618550	chr2:77786394-77786395	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538376567	chr2:77786401-77786402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537044795	chr2:77786403-77786404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556067013	chr2:77786409-77786410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6724806	chr2:77786509-77786510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77188670	chr2:77786570-77786571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571897775	chr2:77786579-77786580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs34705852	chr2:77791802-77791803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs398080365	chr2:77791812-77791813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397873014	chr2:77791813-77791814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564059585	chr2:77791817-77791818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562491661	chr2:77791849-77791850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138803534	chr2:77791867-77791868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546596598	chr2:77791868-77791869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566845580	chr2:77791885-77791886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62159532	chr2:77791908-77791909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532860182	chr2:77791926-77791927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62159533	chr2:77791943-77791944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141990261	chr2:77791948-77791949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191619536	chr2:77791958-77791959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569527360	chr2:77791970-77791971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184199171	chr2:77792259-77792260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572829418	chr2:77792291-77792292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74702510	chr2:77792318-77792319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78353173	chr2:77792349-77792350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78919952	chr2:77792371-77792372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544004286	chr2:77792404-77792405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563996142	chr2:77792405-77792406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548742046	chr2:77792483-77792484	Weak transcription	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77786000-77786600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:77791800-77792000	Enhancers	Pancreas	Pancrea
3	chr2:77792200-77793200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:77792800-77795400	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:77793000-77793600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:77793000-77793800	Enhancers	Fetal Lung	lung
7	chr2:77793000-77794000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:77793000-77794200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:77793200-77793800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:77793200-77794000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:77793200-77794200	Enhancers	HepG2	liver
12	chr2:77793200-77795200	Enhancers	Liver	Liver
13	chr2:77793200-77795600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:77793200-77796000	Enhancers	Fetal Intestine Small	intestine
15	chr2:77793200-77796200	Enhancers	Fetal Intestine Large	intestine
16	chr2:77793400-77794000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:77793600-77795600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:77793800-77794200	Enhancers	Adipose Nuclei	Adipose
19	chr2:77793800-77794600	Weak transcription	Fetal Lung	lung
20	chr2:77794000-77795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:77794200-77794600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:77794600-77794800	Active TSS	Fetal Lung	lung
23	chr2:77794600-77795200	Enhancers	Adipose Nuclei	Adipose
24	chr2:77794800-77795000	Flanking Active TSS	Fetal Lung	lung
25	chr2:77795000-77795600	Active TSS	Fetal Lung	lung
26	chr2:77795200-77795400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:77802400-77802600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:77802800-77804200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:77803400-77804200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:77804200-77804600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:77804200-77807400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:77804600-77804800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:77804800-77805600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:77805200-77806000	Enhancers	Liver	Liver
35	chr2:77805600-77806000	Enhancers	Adipose Nuclei	Adipose
36	chr2:77805600-77806000	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:77805600-77806000	Enhancers	HepG2	liver
38	chr2:77805600-77806400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:77807400-77816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:77807800-77808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:77808000-77808200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:77808200-77820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:77816400-77817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:77816600-77816800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:77816600-77816800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:77816600-77817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:77816600-77817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:77816600-77817600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:77816800-77817800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:77816800-77819400	Weak transcription	H9 Cell Line	embryonic stem cell

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