Variant report

Variant	nsv470474
Chromosome Location	chr2:77987549-78028555
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	CEBPB	chr2:77995750-77995921	HepG2	liver:	n/a	chr2:77995852-77995863
2	CEBPB	chr2:77995692-77996037	HepG2	liver:	n/a	chr2:77995852-77995863
3	CEBPB	chr2:78018338-78018524	HepG2	liver:	n/a	chr2:78018470-78018483 chr2:78018453-78018464
4	CTCF	chr2:77999629-77999640	GM10248	blood:	n/a	n/a
5	CTCF	chr2:77996242-77996290	GM19239	blood:	n/a	n/a
6	CTCF	chr2:77996793-77996806	GM13976	blood:	n/a	n/a
7	CTCF	chr2:78023640-78023790	BE2_C	brain:	n/a	n/a
8	CTCF	chr2:78023640-78023790	Caco-2	colon:	n/a	n/a
9	CTCF	chr2:78007686-78007720	Lung_OC	lung:	n/a	n/a
10	CTCF	chr2:78023560-78023710	BE2_C	brain:	n/a	n/a
11	E2F4	chr2:77992385-77992727	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr2:78024715-78025098	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr2:78017913-78017915	HepG2	liver:	n/a	n/a
14	EP300	chr2:78016788-78017750	SK-N-SH	brain:	n/a	n/a
15	EP300	chr2:78027202-78027929	SK-N-SH	brain:	n/a	n/a
16	EP300	chr2:78027585-78027826	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr2:78027511-78027934	SK-N-SH_RA	brain:	n/a	n/a
18	FOXA1	chr2:78005800-78006091	HepG2	liver:	n/a	n/a
19	FOXA2	chr2:78005851-78006049	HepG2	liver:	n/a	n/a
20	GATA3	chr2:78027554-78027828	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:78018670-78018890	SH-SY5Y	brain:	n/a	n/a
22	IRF1	chr2:77993093-77993169	K562	blood:	n/a	n/a
23	JUND	chr2:78024257-78024495	H1-hESC	embryonic stem cell:	n/a	chr2:78024399-78024407 chr2:78024399-78024406
24	MAFF	chr2:78018707-78018937	HepG2	liver:	n/a	chr2:78018769-78018787
25	MAFK	chr2:78014326-78014517	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFK	chr2:78018627-78018907	HepG2	liver:	n/a	chr2:78018770-78018784 chr2:78018771-78018787 chr2:78018772-78018783 chr2:78018771-78018786
27	MAFK	chr2:78018629-78018930	HepG2	liver:	n/a	chr2:78018770-78018784 chr2:78018771-78018787 chr2:78018772-78018783 chr2:78018771-78018786
28	MAZ	chr2:78020187-78020305	HepG2	liver:	n/a	n/a
29	MYC	chr2:77996220-77996320	HUVEC	blood vessel:	n/a	n/a
30	MYC	chr2:78006928-78007087	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr2:78011662-78011784	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFIC	chr2:78006010-78006542	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr2:77994422-77994534	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:78003991-78004165	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:77998769-77998869	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:78024279-78024633	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:78027614-78027826	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:78019536-78019577	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr2:77996231-77996343	Gliobla	brain:	n/a	n/a
40	POLR2A	chr2:78026034-78026241	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:77996527-77996727	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:78008740-78008885	Gliobla	brain:	n/a	n/a
43	POLR2A	chr2:78009735-78009812	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:78008847-78008930	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:77995588-77996157	HL-60	blood:	n/a	n/a
46	POLR2A	chr2:78006004-78006333	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr2:77994527-77994533	A549	lung:	n/a	n/a
48	POLR2A	chr2:78009672-78009730	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:77994449-77994507	A549	lung:	n/a	n/a
50	POLR2A	chr2:77995603-77996211	HL-60	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-10	chr2:77996541-77996727	l_1869_chr2:77996540-77998625_testes
2	lnc-REG3G-10	chr2:77998337-77998625	l_1869_chr2:77996540-77998625_testes
3	lnc-REG3G-10	chr2:77997871-77998038	l_1869_chr2:77996540-77998625_testes
4	lnc-REG3G-9	chr2:78019858-78020279	NONHSAT071833
5	lnc-REG3G-9	chr2:78015508-78015637	NONHSAT071833
6	lnc-REG3G-9	chr2:78014667-78014729	NONHSAT071833
7	lnc-REG3G-9	chr2:78019947-78020151	NONHSAT071834
8	lnc-REG3G-10	chr2:77996568-77996727	NONHSAT071832
9	lnc-REG3G-10	chr2:77997871-77998038	NONHSAT071832
10	lnc-REG3G-9	chr2:78013230-78013238	NONHSAT071833
11	lnc-REG3G-10	chr2:77998337-77998643	NONHSAT071832

Variant related genes	Relation type
ENSG00000237077	TF binding region

Extended variants
information (count: 691 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:691 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74830542	chr2:77994405-77994406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146436056	chr2:77994454-77994455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571565649	chr2:77994491-77994492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566356105	chr2:77994492-77994493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532286456	chr2:77994493-77994494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375309427	chr2:77994513-77994514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374600524	chr2:77994550-77994551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376876429	chr2:77994593-77994594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557871599	chr2:77994614-77994615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140796709	chr2:77994619-77994620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs184413600	chr2:77994624-77994625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551306730	chr2:77994657-77994658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540041644	chr2:77994671-77994672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79043387	chr2:77994687-77994688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567316653	chr2:77994703-77994704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115146390	chr2:77994723-77994724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143510507	chr2:77994760-77994761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536371204	chr2:77994763-77994764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146751388	chr2:77994766-77994767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573849910	chr2:77994767-77994768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188802356	chr2:77994777-77994778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79081351	chr2:77994809-77994810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398080367	chr2:77994812-77994813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192535168	chr2:77994834-77994835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576627442	chr2:77994835-77994836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113346336	chr2:77994836-77994837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545491123	chr2:77994849-77994850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565343111	chr2:77994862-77994863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572561800	chr2:77994865-77994866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75306509	chr2:77994871-77994872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561675351	chr2:77994886-77994887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142428248	chr2:77994889-77994890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530311934	chr2:77994980-77994981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573002440	chr2:77994982-77994983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372356594	chr2:77994983-77994984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111740743	chr2:77994999-77995000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555838810	chr2:77995019-77995020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375866976	chr2:77995037-77995038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148893460	chr2:77995056-77995057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571245111	chr2:77995069-77995070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369890759	chr2:77995073-77995074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73941466	chr2:77995108-77995109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558674810	chr2:77995147-77995148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567600092	chr2:77995148-77995149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115921614	chr2:77995161-77995162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143473481	chr2:77995167-77995168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148020947	chr2:77995172-77995173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185494358	chr2:77995193-77995194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10177518	chr2:77995209-77995210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572446923	chr2:77995227-77995228	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77994400-77994800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:77994600-77995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:77994600-77996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:77995000-77995200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:77995000-77997400	Weak transcription	Right Atrium	heart
6	chr2:77995200-77996200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:77996200-77996400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:77996200-77996400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:77996400-77999800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:77999800-78000400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:78013600-78014200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:78013800-78014600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:78014000-78014400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:78017800-78018000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:78018000-78021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:78023800-78024600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:78023800-78025000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:78023800-78025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:78024200-78024600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:78024200-78024800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:78024400-78025200	Enhancers	H9 Cell Line	embryonic stem cell

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