Variant report

Variant	nsv537807
Chromosome Location	chr5:92846496-92911797
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	ATF2	chr5:92899881-92900429	GM12878	blood:	n/a	n/a
2	ATF2	chr5:92899840-92900431	GM12878	blood:	n/a	n/a
3	BACH1	chr5:92908191-92908323	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:92908680-92909056	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:92906081-92906982	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr5:92899943-92900191	GM12878	blood:	n/a	chr5:92900108-92900119
7	BATF	chr5:92899906-92900253	GM12878	blood:	n/a	chr5:92900108-92900119
8	BCL11A	chr5:92899900-92900197	GM12878	blood:	n/a	n/a
9	BCL3	chr5:92899943-92900323	GM12878	blood:	n/a	n/a
10	BRCA1	chr5:92882810-92882862	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr5:92899601-92900427	HCT-116	colon:	n/a	n/a
12	CEBPB	chr5:92896502-92896670	HepG2	liver:	n/a	chr5:92896608-92896619 chr5:92896608-92896617 chr5:92896606-92896619 chr5:92896608-92896617 chr5:92896606-92896617 chr5:92896608-92896617 chr5:92896606-92896619 chr5:92896608-92896617
13	CEBPB	chr5:92879953-92880131	A549	lung:	n/a	chr5:92880022-92880033
14	CEBPB	chr5:92846454-92846654	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:92867943-92868489	IMR90	lung:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
16	CEBPB	chr5:92867978-92868324	HepG2	liver:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
17	CEBPB	chr5:92868037-92868259	HepG2	liver:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
18	CEBPB	chr5:92867940-92868407	Hela-S3	cervix:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
19	CEBPB	chr5:92867889-92868477	A549	lung:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
20	CEBPB	chr5:92867958-92868451	A549	lung:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
21	CEBPB	chr5:92879868-92880164	HepG2	liver:	n/a	chr5:92880022-92880033
22	CEBPB	chr5:92867889-92868472	ECC-1	luminal epithelium:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
23	CEBPB	chr5:92867945-92868381	MCF-7	breast:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
24	CEBPB	chr5:92868071-92868272	MCF-7	breast:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
25	CEBPB	chr5:92867942-92868330	HepG2	liver:	n/a	chr5:92867945-92867956 chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92867945-92867958 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142 chr5:92867945-92867956
26	CEBPB	chr5:92867978-92868320	H1-hESC	embryonic stem cell:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
27	CEBPB	chr5:92848399-92848886	IMR90	lung:	n/a	n/a
28	CEBPB	chr5:92867946-92868389	ECC-1	luminal epithelium:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
29	CEBPB	chr5:92868041-92868344	A549	lung:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
30	CEBPB	chr5:92868036-92868204	HepG2	liver:	n/a	chr5:92868131-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868133-92868142 chr5:92868131-92868144 chr5:92868131-92868144 chr5:92868132-92868143 chr5:92868133-92868142
31	CEBPD	chr5:92868068-92868243	HepG2	liver:	n/a	chr5:92868133-92868142 chr5:92868131-92868142
32	CHD1	chr5:92908558-92908879	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr5:92906846-92906857	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr5:92906177-92906639	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr5:92908613-92908813	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr5:92905977-92907351	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr5:92907604-92910294	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr5:92906219-92906318	GM12891	blood:	n/a	n/a
39	CTCF	chr5:92847249-92847397	HepG2	liver:	n/a	n/a
40	CTCF	chr5:92847276-92847452	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:92906218-92906315	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:92878060-92878210	HAc	cerebellar:	n/a	n/a
43	CTCF	chr5:92905540-92905690	NB4	blood:	n/a	n/a
44	CTCF	chr5:92847292-92847363	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr5:92847208-92847474	GM12878	blood:	n/a	n/a
46	CTCF	chr5:92847404-92847407	Gliobla	brain:	n/a	n/a
47	CTCF	chr5:92847326-92847394	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:92906040-92906190	GM12869	blood:	n/a	n/a
49	CTCF	chr5:92906040-92906310	GM12869	blood:	n/a	n/a
50	CTCF	chr5:92906920-92907070	HBMEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92906633-92906683	MCF-7	breast:	n/a
2	chr5:92909968-92910018	HRCEpiC	kidney:	n/a
3	chr5:92909069-92909119	GM12892	blood:	n/a
4	chr5:92906851-92906901	HepG2	liver:	n/a
5	chr5:92906633-92906683	MCF-7	breast:	n/a
6	chr5:92909968-92910018	HRCEpiC	kidney:	n/a
7	chr5:92909069-92909119	GM12892	blood:	n/a
8	chr5:92906851-92906901	HepG2	liver:	n/a
9	chr5:92905692-92905742	MCF-7	breast:	n/a
10	chr5:92906240-92906290	AoSMC	blood vessel:	n/a
11	chr5:92910052-92910102	PANC-1	pancreas:	n/a
12	chr5:92906678-92906728	HCF	heart:	n/a
13	chr5:92911154-92911204	NHDF-neo	bronchial:	n/a
14	chr5:92908051-92908101	GM06990	blood:	n/a
15	chr5:92908392-92908442	HIPEpiC	eye:	n/a
16	chr5:92910052-92910102	HepG2	liver:	n/a
17	chr5:92907881-92907931	NT2-D1	testis:	n/a
18	chr5:92904875-92904925	GM06990	blood:	n/a
19	chr5:92906240-92906290	PFSK-1	brain:	n/a
20	chr5:92905860-92905910	IMR90	lung:	fetal
21	chr5:92908988-92909038	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:92908771-92908821	HAEpiC	amniotic membrane:	n/a
23	chr5:92908051-92908101	SK-N-SH	brain:	n/a
24	chr5:92906633-92906683	HIPEpiC	eye:	n/a
25	chr5:92906240-92906290	NHBE	bronchial:	n/a
26	chr5:92906678-92906728	MCF10A-Er-Src	breast:	n/a
27	chr5:92911154-92911204	NB4	blood:	n/a
28	chr5:92907851-92907901	NH-A	brain:	n/a
29	chr5:92905860-92905910	HCM	heart:	n/a
30	chr5:92905692-92905742	Caco-2	colon:	n/a
31	chr5:92904377-92904427	AG04450	lung:	fetal
32	chr5:92868380-92868430	HepG2	liver:	n/a
33	chr5:92908392-92908442	AG04450	lung:	fetal
34	chr5:92907151-92907201	GM12878	blood:	n/a
35	chr5:92904875-92904925	SK-N-MC	brain:	n/a
36	chr5:92906240-92906290	GM12891	blood:	n/a
37	chr5:92908771-92908821	ECC-1	luminal epithelium:	n/a
38	chr5:92909069-92909119	AG04450	lung:	fetal
39	chr5:92905860-92905910	HepG2	liver:	n/a
40	chr5:92908051-92908101	IMR90	lung:	fetal
41	chr5:92907553-92907603	Hepatocyte	liver:	n/a
42	chr5:92910534-92910584	AG04449	skin:	fetal
43	chr5:92907851-92907901	Jurkat	blood:	n/a
44	chr5:92906678-92906728	HepG2	liver:	n/a
45	chr5:92907881-92907931	Hela-S3	cervix:	n/a
46	chr5:92904377-92904427	SK-N-SH_RA	brain:	n/a
47	chr5:92904377-92904427	H1-hESC	embryonic stem cell:	embryo
48	chr5:92908771-92908821	SK-N-SH_RA	brain:	n/a
49	chr5:92907881-92907931	LNCaP	prostate:	n/a
50	chr5:92909429-92909479	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92910337..92912494-chr5:92915588..92917901,2	MCF-7	breast:
2	chr5:92899115..92901267-chr5:92906370..92908951,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-2	chr5:92889467-92889569	ENSG00000237187.4
2	lnc-FAM172A-2	chr5:92890580-92890701	ENSG00000237187.4
3	lnc-FAM172A-2	chr5:92899070-92899166	NR_109823
4	lnc-FAM172A-2	chr5:92899070-92899169	NR_109824
5	lnc-FAM172A-2	chr5:92889467-92889569	NR_021490
6	lnc-NR2F1-1	chr5:92889467-92889570	NONHSAT102804
7	lnc-FAM172A-2	chr5:92899070-92899169	NR_021490
8	lnc-FAM172A-2	chr5:92890580-92890701	NR_109823
9	lnc-FAM172A-2	chr5:92890580-92890701	ENSG00000237187.4
10	lnc-NR2F1-1	chr5:92908567-92908957	NONHSAT102813
11	lnc-FAM172A-2	chr5:92899070-92899169	NONHSAT102794
12	lnc-NR2F1-1	chr5:92908567-92908913	NONHSAT102810
13	lnc-FAM172A-2	chr5:92890580-92890701	NONHSAT102794
14	lnc-NR2F1-1	chr5:92909152-92909378	XLOC_004475
15	lnc-FAM172A-2	chr5:92899070-92899169	ENSG00000237187.4
16	lnc-FAM172A-2	chr5:92877578-92879730	NR_021490
17	lnc-NR2F1-1	chr5:92906562-92907480	NONHSAT102804
18	lnc-FAM172A-2	chr5:92877578-92879730	ENSG00000237187
19	lnc-FAM172A-2	chr5:92890580-92890701	ENSG00000237187
20	lnc-FAM172A-2	chr5:92889467-92889569	NONHSAT147347
21	lnc-FAM172A-2	chr5:92890580-92890701	NR_109819
22	lnc-FAM172A-2	chr5:92889467-92889569	ENSG00000237187.4
23	lnc-FAM172A-2	chr5:92906204-92907049	NR_109825
24	lnc-FAM172A-2	chr5:92899070-92899169	NONHSAT102789
25	lnc-FAM172A-2	chr5:92890580-92890701	NR_109825
26	lnc-FAM172A-2	chr5:92880501-92880621	ENSG00000237187.4
27	lnc-FAM172A-2	chr5:92905596-92907049	ENSG00000237187.4
28	lnc-FAM172A-2	chr5:92899070-92899169	ENSG00000237187
29	lnc-FAM172A-2	chr5:92890580-92890701	NONHSAT102793
30	lnc-FAM172A-2	chr5:92890580-92890701	NONHSAT102790
31	lnc-FAM172A-2	chr5:92890580-92890701	NR_109818
32	lnc-FAM172A-2	chr5:92889467-92889569	NONHSAT102803
33	lnc-FAM172A-2	chr5:92889467-92889569	NR_109825
34	lnc-FAM172A-2	chr5:92899070-92899169	NR_109818
35	lnc-FAM172A-2	chr5:92905596-92905708	NR_109818
36	lnc-FAM172A-2	chr5:92899070-92899169	ENSG00000237187
37	lnc-FAM172A-2	chr5:92889467-92889569	NONHSAT102793
38	lnc-FAM172A-2	chr5:92889467-92889569	NONHSAT102795
39	lnc-FAM172A-2	chr5:92877578-92879730	NONHSAT102805
40	lnc-FAM172A-2	chr5:92899070-92899169	NONHSAT102787
41	lnc-FAM172A-2	chr5:92889467-92889569	ENSG00000237187.4
42	lnc-FAM172A-2	chr5:92889467-92889569	NR_109820
43	lnc-FAM172A-2	chr5:92890580-92890701	ENSG00000237187.4
44	lnc-FAM172A-2	chr5:92889467-92889569	ENSG00000237187.4
45	lnc-FAM172A-2	chr5:92890580-92890701	ENSG00000237187
46	lnc-FAM172A-2	chr5:92899070-92899169	NR_109820
47	lnc-FAM172A-2	chr5:92889467-92889569	ENSG00000237187.4
48	lnc-FAM172A-2	chr5:92899070-92899169	NONHSAT102792
49	lnc-FAM172A-2	chr5:92899070-92899169	ENSG00000237187
50	lnc-FAM172A-2	chr5:92890580-92890701	NONHSAT102806

Variant related genes	Relation type
NR2F1-AS1	TF binding region
NR2F1-AS1	CpG island
ENSG00000237187	chromatin interactions
GRIA2	miRNA target sites
MRPS23	miRNA target sites
HMGA2	miRNA target sites
MSH2	miRNA target sites
FOXO1	miRNA target sites
C14orf45	miRNA target sites
C17orf100	miRNA target sites
ARHGAP21	miRNA target sites
C5orf34	miRNA target sites
PTPN9	miRNA target sites
WEE1	miRNA target sites
MIDN	miRNA target sites
ARID1A	miRNA target sites
VSNL1	miRNA target sites

Extended variants
information (count: 1961 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1961 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563426524	chr5:92846516-92846517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577133546	chr5:92846610-92846611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113718877	chr5:92846660-92846661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576074587	chr5:92846753-92846754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565363288	chr5:92846769-92846770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372661307	chr5:92846792-92846793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376949895	chr5:92846837-92846838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561375443	chr5:92846876-92846877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530291460	chr5:92846885-92846886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550066080	chr5:92846911-92846912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569889741	chr5:92846933-92846934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538864492	chr5:92847038-92847039	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552380003	chr5:92847070-92847071	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565431984	chr5:92847075-92847076	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541882696	chr5:92847097-92847098	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72786616	chr5:92847117-92847118	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369321493	chr5:92847141-92847142	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568652366	chr5:92847202-92847203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569564076	chr5:92847234-92847235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554224621	chr5:92847318-92847319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572216904	chr5:92847360-92847361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138601519	chr5:92847385-92847386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536917584	chr5:92847392-92847393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143073463	chr5:92847452-92847453	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577244767	chr5:92847489-92847490	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76183809	chr5:92847512-92847513	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373167028	chr5:92847525-92847526	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182981353	chr5:92847528-92847529	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541525453	chr5:92847685-92847686	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147484254	chr5:92847693-92847694	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554442260	chr5:92847696-92847697	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140029060	chr5:92847705-92847706	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145345724	chr5:92847709-92847710	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532599439	chr5:92847724-92847725	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147254926	chr5:92847749-92847750	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532712121	chr5:92847811-92847812	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552341170	chr5:92847824-92847825	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566271055	chr5:92847880-92847881	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536039835	chr5:92847896-92847897	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557773692	chr5:92847902-92847903	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552806207	chr5:92847903-92847904	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562856303	chr5:92847917-92847918	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77659142	chr5:92847936-92847937	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548286661	chr5:92847967-92847968	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531579806	chr5:92848026-92848027	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148791834	chr5:92848055-92848056	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73133265	chr5:92848097-92848098	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557024339	chr5:92848118-92848119	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187877611	chr5:92848123-92848124	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190619633	chr5:92848142-92848143	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:982 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92815200-92859200	Weak transcription	Fetal Brain Male	brain
2	chr5:92827000-92858200	Weak transcription	Ovary	ovary
3	chr5:92827200-92851600	Weak transcription	Fetal Kidney	kidney
4	chr5:92827200-92858200	Weak transcription	Fetal Stomach	stomach
5	chr5:92839600-92857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:92839800-92855200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:92840200-92848200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:92840200-92848400	Weak transcription	HSMM	muscle
9	chr5:92840400-92847000	Weak transcription	NHDF-Ad	bronchial
10	chr5:92840400-92848000	Weak transcription	Osteobl	bone
11	chr5:92841000-92846600	Weak transcription	Fetal Lung	lung
12	chr5:92841400-92857400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:92841600-92847800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:92841600-92858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:92842200-92853000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:92845000-92847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:92845800-92850600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:92846000-92846800	Weak transcription	NHLF	lung
19	chr5:92846000-92849200	Enhancers	HUVEC	blood vessel
20	chr5:92846200-92847200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:92846400-92847000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:92846600-92847200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:92846600-92847200	Enhancers	Fetal Lung	lung
24	chr5:92846800-92847000	Enhancers	NHLF	lung
25	chr5:92846800-92847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:92846800-92847200	Enhancers	NH-A	brain
27	chr5:92847000-92847200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:92847000-92847200	Enhancers	NHDF-Ad	bronchial
29	chr5:92847000-92848400	Weak transcription	NHLF	lung
30	chr5:92847200-92847600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:92847200-92848200	Weak transcription	NH-A	brain
32	chr5:92847200-92848200	Weak transcription	NHDF-Ad	bronchial
33	chr5:92847200-92857200	Weak transcription	Fetal Lung	lung
34	chr5:92847400-92850200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:92847600-92854200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:92847800-92849000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:92848000-92850400	Enhancers	Osteobl	bone
38	chr5:92848200-92848800	Enhancers	NH-A	brain
39	chr5:92848200-92849200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:92848200-92849200	Enhancers	NHDF-Ad	bronchial
41	chr5:92848400-92848600	Enhancers	HSMM	muscle
42	chr5:92848400-92848800	Enhancers	HMEC	breast
43	chr5:92848400-92848800	Enhancers	NHLF	lung
44	chr5:92848400-92849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:92848600-92854800	Weak transcription	HSMM	muscle
46	chr5:92848800-92855000	Weak transcription	NHLF	lung
47	chr5:92849000-92849600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:92849200-92854600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:92849200-92855200	Weak transcription	NHDF-Ad	bronchial
50	chr5:92849200-92855400	Weak transcription	HUVEC	blood vessel

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