Variant report

Variant	nsv874361
Chromosome Location	chr2:78582650-78691068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:78653375-78653864	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:78643666-78644757	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:78670802-78671082	A549	lung:	n/a	n/a
4	CEBPB	chr2:78590365-78590520	A549	lung:	n/a	n/a
5	CEBPB	chr2:78589467-78589821	K562	blood:	n/a	chr2:78589637-78589648
6	CEBPB	chr2:78640682-78640882	A549	lung:	n/a	chr2:78640779-78640790 chr2:78640781-78640790
7	CEBPB	chr2:78641631-78642288	IMR90	lung:	n/a	chr2:78641752-78641763
8	CEBPB	chr2:78640657-78640890	HepG2	liver:	n/a	chr2:78640779-78640790 chr2:78640781-78640790
9	CEBPB	chr2:78640615-78640922	K562	blood:	n/a	chr2:78640779-78640790 chr2:78640781-78640790
10	CEBPB	chr2:78662598-78662798	A549	lung:	n/a	n/a
11	CEBPB	chr2:78641606-78642279	HepG2	liver:	n/a	chr2:78641752-78641763
12	CEBPB	chr2:78589510-78589810	Hela-S3	cervix:	n/a	chr2:78589637-78589648
13	CEBPB	chr2:78645120-78645483	MCF-7	breast:	n/a	chr2:78645291-78645302
14	CEBPB	chr2:78645132-78645485	ECC-1	luminal epithelium:	n/a	chr2:78645291-78645302
15	CEBPB	chr2:78645169-78645536	ECC-1	luminal epithelium:	n/a	chr2:78645291-78645302
16	CEBPB	chr2:78589456-78589783	HepG2	liver:	n/a	chr2:78589637-78589648
17	CEBPB	chr2:78645108-78645536	Hela-S3	cervix:	n/a	chr2:78645291-78645302
18	CEBPB	chr2:78643741-78644061	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:78606574-78606774	A549	lung:	n/a	n/a
20	CEBPB	chr2:78589546-78589687	H1-hESC	embryonic stem cell:	n/a	chr2:78589637-78589648
21	CEBPB	chr2:78641675-78642156	A549	lung:	n/a	chr2:78641752-78641763
22	CEBPB	chr2:78589542-78589761	IMR90	lung:	n/a	chr2:78589637-78589648
23	CEBPB	chr2:78633266-78633466	HepG2	liver:	n/a	chr2:78633403-78633416 chr2:78633404-78633415
24	CEBPB	chr2:78642053-78642249	K562	blood:	n/a	n/a
25	CEBPB	chr2:78583349-78583384	K562	blood:	n/a	n/a
26	CEBPB	chr2:78670785-78671146	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:78589457-78589745	A549	lung:	n/a	chr2:78589637-78589648
28	CTCF	chr2:78658498-78658597	SK-N-SH_RA	brain:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
29	CTCF	chr2:78658473-78658644	HepG2	liver:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
30	CTCF	chr2:78658512-78658573	Pancreas_OC	pancreas:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
31	CTCF	chr2:78658440-78658590	Hela-S3	cervix:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
32	CTCF	chr2:78658427-78658663	ECC-1	luminal epithelium:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
33	CTCF	chr2:78658382-78658769	MCF-7	breast:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
34	CTCF	chr2:78686024-78686082	GM20000	blood:	n/a	n/a
35	CTCF	chr2:78668710-78668771	GM20000	blood:	n/a	n/a
36	CTCF	chr2:78658439-78658669	LNCaP	prostate:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
37	CTCF	chr2:78683805-78683874	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:78635971-78636052	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:78590411-78590414	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr2:78658440-78658590	SK-N-SH_RA	brain:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
41	CTCF	chr2:78658415-78658684	H1-hESC	embryonic stem cell:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
42	CTCF	chr2:78658594-78658596	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:78658492-78658629	GM12878	blood:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
44	CTCF	chr2:78658400-78658550	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr2:78612485-78612507	GM20000	blood:	n/a	n/a
46	CTCF	chr2:78658500-78658650	HEK293	kidney:	n/a	chr2:78658544-78658565 chr2:78658542-78658560 chr2:78658545-78658558
47	CTCF	chr2:78658564-78658593	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:78658200-78658350	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr2:78638360-78638510	GM12874	blood:	n/a	n/a
50	CTCF	chr2:78658500-78658650	SK-N-SH_RA	brain:	n/a	chr2:78658542-78658560 chr2:78658545-78658558 chr2:78658544-78658565

No.	Distal block	Cell Line	Cell type
1	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:
2	chr2:78658362..78658925-chr2:79089675..79090181,2	MCF-7	breast:
3	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
4	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
5	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
6	chr2:78578903..78584135-chr2:78585848..78590226,6	K562	blood:
7	chr2:78658404..78659062-chr2:79206498..79207224,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78637204-78640302	NONHSAT071835
2	lnc-REG1B-7	chr2:78678545-78678570	NONHSAT071849
3	lnc-REG1B-7	chr2:78679696-78680040	NONHSAT071849
4	lnc-LRRTM4-3	chr2:78683574-78683857	NONHSAT071835
5	lnc-LRRTM4-3	chr2:78639673-78640302	NONHSAT071846
6	lnc-REG3G-7	chr2:78664976-78666047	NONHSAT071848
7	lnc-LRRTM4-3	chr2:78639919-78640220	NONHSAT071847

Variant related genes	Relation type
CYCSP6	TF binding region
ENSG00000270470	TF binding region

Extended variants
information (count: 2478 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2478 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545866426	chr2:78583025-78583026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529763641	chr2:78583057-78583058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139026417	chr2:78583100-78583101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192167864	chr2:78583134-78583135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534840998	chr2:78583179-78583180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112193947	chr2:78583187-78583188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575026379	chr2:78583241-78583242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543555830	chr2:78583274-78583275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563673092	chr2:78583280-78583281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59582376	chr2:78583287-78583288	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546461553	chr2:78583323-78583324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146518221	chr2:78583330-78583331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6742566	chr2:78583340-78583341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548417498	chr2:78583342-78583343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562321069	chr2:78583358-78583359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561957814	chr2:78583363-78583364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139957349	chr2:78583395-78583396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549630988	chr2:78583411-78583412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184428321	chr2:78583420-78583421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188849311	chr2:78583426-78583427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527632105	chr2:78583440-78583441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79814751	chr2:78583461-78583462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143395289	chr2:78583463-78583464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145557787	chr2:78583475-78583476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554758036	chr2:78583477-78583478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371314037	chr2:78583479-78583480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149172845	chr2:78583535-78583536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374288447	chr2:78583570-78583571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116944666	chr2:78583591-78583592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577148544	chr2:78583592-78583593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193290308	chr2:78583611-78583612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559612715	chr2:78583616-78583617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538815525	chr2:78583620-78583621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552484069	chr2:78583626-78583627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185478449	chr2:78583682-78583683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1526388	chr2:78583684-78583685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531024715	chr2:78583725-78583726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112549362	chr2:78583776-78583777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79292678	chr2:78583795-78583796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143289443	chr2:78583796-78583797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537665115	chr2:78583804-78583805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546763334	chr2:78583807-78583808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552242292	chr2:78583810-78583811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151259400	chr2:78583840-78583841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180803012	chr2:78583860-78583861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184006339	chr2:78583867-78583868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568231787	chr2:78583913-78583914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536879323	chr2:78583929-78583930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557425998	chr2:78583958-78583959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570898959	chr2:78583979-78583980	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78583000-78583400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:78583000-78583800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:78583200-78584200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:78583200-78584400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:78609800-78612200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:78610000-78610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:78610200-78611200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:78610400-78610800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:78610800-78611400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:78611200-78611600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:78611600-78612200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:78624000-78624200	ZNF genes & repeats	Gastric	stomach
13	chr2:78626400-78627600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:78634000-78643200	Weak transcription	K562	blood
15	chr2:78634200-78643600	Weak transcription	HepG2	liver
16	chr2:78635400-78635800	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:78638000-78638800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:78638200-78638600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:78638800-78639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:78640000-78640200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:78640000-78640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:78641800-78642000	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr2:78642000-78643600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:78643600-78644600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:78643600-78645400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:78643600-78645400	Enhancers	HepG2	liver
27	chr2:78643800-78644600	Enhancers	Brain Substantia Nigra	brain
28	chr2:78643800-78645400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:78644200-78644800	Enhancers	Brain Angular Gyrus	brain
30	chr2:78644400-78644600	Active TSS	Fetal Kidney	kidney
31	chr2:78644400-78644800	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:78644600-78644800	Flanking Active TSS	Fetal Kidney	kidney
33	chr2:78644600-78645400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:78645400-78645600	Enhancers	Brain Hippocampus Middle	brain
35	chr2:78645400-78671000	Weak transcription	HepG2	liver
36	chr2:78666400-78666600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:78671000-78672200	ZNF genes & repeats	HepG2	liver
38	chr2:78672600-78673800	Weak transcription	HepG2	liver
39	chr2:78673800-78674000	ZNF genes & repeats	HepG2	liver
40	chr2:78674000-78682800	Weak transcription	HepG2	liver
41	chr2:78676200-78676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:78676600-78676800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:78676800-78677200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:78677400-78678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:78680800-78682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:78682400-78683800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:78682800-78683400	Enhancers	HepG2	liver
48	chr2:78683400-78742200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links