Variant report

Variant	esv3350173
Chromosome Location	chr5:92923496-92925444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:92924448-92924582	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:92924060-92924095	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr5:92923610-92924044	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386
5	CTBP2	chr5:92923176-92924632	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:92924473-92924519	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr5:92925380-92925670	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr5:92923540-92923690	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr5:92923400-92923550	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:92923902-92923926	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:92925360-92925510	HPF	lung:	n/a	n/a
12	CTCF	chr5:92923400-92923550	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr5:92923420-92923570	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr5:92923935-92923948	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr5:92923622-92924311	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr5:92923660-92924265	H1-hESC	embryonic stem cell:	n/a	n/a
17	GTF2F1	chr5:92923961-92924000	H1-hESC	embryonic stem cell:	n/a	n/a
18	IRF3	chr5:92925259-92925261	GM12878	blood:	n/a	n/a
19	MAX	chr5:92923767-92924162	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr5:92923575-92924320	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr5:92923676-92924219	SK-N-SH	brain:	n/a	n/a
22	MAX	chr5:92923594-92924252	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr5:92922722-92925132	IMR90	lung:	n/a	n/a
24	MXI1	chr5:92923869-92924117	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr5:92924075-92924115	MCF-7	breast:	n/a	n/a
26	MYC	chr5:92923860-92923999	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr5:92923559-92923575	MCF-7	breast:	n/a	n/a
28	MYC	chr5:92923755-92923772	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:92924183-92924589	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:92924101-92924109	Gliobla	brain:	n/a	n/a
31	POLR2A	chr5:92923818-92924009	Gliobla	brain:	n/a	n/a
32	POLR2A	chr5:92922933-92923833	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:92923400-92923657	HepG2	liver:	n/a	n/a
34	POLR2A	chr5:92923317-92924647	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:92924900-92928001	U87	brain:	n/a	n/a
36	POLR2A	chr5:92923521-92924189	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:92922860-92923655	U87	brain:	n/a	n/a
38	POLR2A	chr5:92922834-92923820	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:92924657-92925465	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:92922854-92923988	U87	brain:	n/a	n/a
41	POLR2A	chr5:92923442-92923497	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:92923438-92923611	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:92924328-92924848	U87	brain:	n/a	n/a
44	POLR2A	chr5:92923701-92924109	MCF-7	breast:	n/a	n/a
45	RAD21	chr5:92925290-92926168	SK-N-SH	brain:	n/a	n/a
46	RAD21	chr5:92925211-92925809	IMR90	lung:	n/a	n/a
47	RAD21	chr5:92925431-92925683	HepG2	liver:	n/a	n/a
48	RAD21	chr5:92925439-92925738	Hela-S3	cervix:	n/a	n/a
49	RAD21	chr5:92923671-92924081	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr5:92922829-92924122	IMR90	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:92923623-92923673	HCT-116	colon:	n/a
2	chr5:92924603-92924653	AG10803	skin:	n/a
3	chr5:92924603-92924653	AG04449	skin:	fetal
4	chr5:92924603-92924653	SK-N-SH_RA	brain:	n/a
5	chr5:92924091-92924141	NHDF-neo	bronchial:	n/a
6	chr5:92924603-92924653	HUVEC	blood vessel:	n/a
7	chr5:92923623-92923673	HEK293	kidney:	embryo
8	chr5:92924603-92924653	HCPEpiC	choroid plexus:	n/a
9	chr5:92924091-92924141	SK-N-SH	brain:	n/a
10	chr5:92924603-92924653	NHDF-neo	bronchial:	n/a
11	chr5:92924603-92924653	HMEC	breast:	n/a
12	chr5:92923623-92923673	HIPEpiC	eye:	n/a
13	chr5:92924603-92924653	HRCEpiC	kidney:	n/a
14	chr5:92923623-92923673	Hepatocyte	liver:	n/a
15	chr5:92924091-92924141	Jurkat	blood:	n/a
16	chr5:92923623-92923673	HUVEC	blood vessel:	n/a
17	chr5:92923623-92923673	HCPEpiC	choroid plexus:	n/a
18	chr5:92924091-92924141	HCF	heart:	n/a
19	chr5:92924091-92924141	AG04449	skin:	fetal
20	chr5:92924603-92924653	HRPEpiC	eye:	n/a
21	chr5:92924603-92924653	HNPCEpiC	eye:	n/a
22	chr5:92924603-92924653	ProgFib	skin:	n/a
23	chr5:92924603-92924653	MCF-7	breast:	n/a
24	chr5:92923623-92923673	IMR90	lung:	fetal
25	chr5:92924091-92924141	SK-N-SH_RA	brain:	n/a
26	chr5:92924091-92924141	U87	brain:	n/a
27	chr5:92924091-92924141	SKMC	muscle:	n/a
28	chr5:92924091-92924141	HUVEC	blood vessel:	n/a
29	chr5:92924603-92924653	AoSMC	blood vessel:	n/a
30	chr5:92923623-92923673	K562	blood:	n/a
31	chr5:92924603-92924653	HAEpiC	amniotic membrane:	n/a
32	chr5:92924603-92924653	CMK	blood:	n/a
33	chr5:92923623-92923673	RPTEC	kidney:	n/a
34	chr5:92923623-92923673	HCM	heart:	n/a
35	chr5:92923623-92923673	ovcar-3	ovarian:	n/a
36	chr5:92924091-92924141	HRE	kidney:	n/a
37	chr5:92924603-92924653	K562	blood:	n/a
38	chr5:92924603-92924653	SKMC	muscle:	n/a
39	chr5:92923623-92923673	SKMC	muscle:	n/a
40	chr5:92923623-92923673	SK-N-SH_RA	brain:	n/a
41	chr5:92923623-92923673	HMEC	breast:	n/a
42	chr5:92923623-92923673	HRPEpiC	eye:	n/a
43	chr5:92924091-92924141	AG10803	skin:	n/a
44	chr5:92924091-92924141	PANC-1	pancreas:	n/a
45	chr5:92923623-92923673	SK-N-MC	brain:	n/a
46	chr5:92924091-92924141	MCF-7	breast:	n/a
47	chr5:92923623-92923673	HL-60	blood:	n/a
48	chr5:92923623-92923673	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:92923623-92923673	AG10803	skin:	n/a
50	chr5:92924091-92924141	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:92925322..92926942-chr5:92936051..92937789,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-2	chr5:92924826-92924925	ucscGeneNc_uc003kkg_2

No data

Variant related genes	Relation type
NR2F1	TF binding region
NR2F1-AS1	TF binding region
NR2F1	CpG island
NR2F1-AS1	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573769008	chr5:92923513-92923514	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs542727523	chr5:92923541-92923542	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs562501044	chr5:92923547-92923548	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs531733154	chr5:92923552-92923553	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs545373190	chr5:92923557-92923558	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs565610394	chr5:92923570-92923571	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs192538307	chr5:92923580-92923581	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs576099738	chr5:92923618-92923619	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs372471207	chr5:92923624-92923625	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs370606773	chr5:92923664-92923665	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs374430367	chr5:92923744-92923745	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs368008985	chr5:92923760-92923761	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs372227484	chr5:92923867-92923868	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs547985564	chr5:92923915-92923916	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs140323285	chr5:92923940-92923941	Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs369796105	chr5:92924069-92924070	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs149919156	chr5:92924121-92924122	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs567877733	chr5:92924170-92924171	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs373813261	chr5:92924175-92924176	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs554820541	chr5:92924321-92924322	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs529776561	chr5:92924372-92924373	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs549908306	chr5:92924426-92924427	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs148092401	chr5:92924483-92924484	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs200226530	chr5:92924496-92924497	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs318103	chr5:92924498-92924499	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs569668150	chr5:92924500-92924501	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs538670051	chr5:92924544-92924545	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs183711176	chr5:92924545-92924546	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs565992926	chr5:92924571-92924572	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs534634486	chr5:92924578-92924579	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs554308710	chr5:92924697-92924698	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs12657533	chr5:92924699-92924700	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs574301435	chr5:92924750-92924751	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs560445421	chr5:92924853-92924854	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs556283433	chr5:92924926-92924927	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs142562801	chr5:92925032-92925033	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs188746373	chr5:92925038-92925039	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs545417274	chr5:92925046-92925047	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs72786629	chr5:92925186-92925187	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572668349	chr5:92925222-92925223	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs192959618	chr5:92925313-92925314	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs185231034	chr5:92925338-92925339	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs530366319	chr5:92925391-92925392	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs3776601	chr5:92925443-92925444	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
2	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
3	chr5:92914600-92924600	Active TSS	HSMM	muscle
4	chr5:92914600-92924800	Active TSS	Right Atrium	heart
5	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:92915200-92923600	Active TSS	NH-A	brain
7	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
9	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:92919800-92925400	Active TSS	Brain Germinal Matrix	brain
11	chr5:92920600-92924600	Active TSS	Fetal Kidney	kidney
12	chr5:92920800-92929400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:92921000-92925400	Bivalent/Poised TSS	Fetal Lung	lung
14	chr5:92921000-92927800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92922000-92925000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:92922200-92923600	Weak transcription	HMEC	breast
17	chr5:92922200-92924600	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:92922200-92931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:92922200-92934200	Weak transcription	HSMMtube	muscle
20	chr5:92922600-92923800	Flanking Active TSS	Hela-S3	cervix
21	chr5:92922600-92929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:92922800-92924000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr5:92922800-92924200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
24	chr5:92922800-92924400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:92922800-92925000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:92922800-92925000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:92922800-92927000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
28	chr5:92922800-92927800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:92922800-92929800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:92923000-92923800	Bivalent/Poised TSS	Placenta	Placenta
31	chr5:92923000-92924000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:92923200-92923600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:92923200-92923600	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr5:92923200-92923600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr5:92923200-92923600	Flanking Active TSS	Ovary	ovary
36	chr5:92923200-92923800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr5:92923200-92923800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:92923200-92924000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:92923200-92924000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr5:92923200-92924000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr5:92923200-92924000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr5:92923200-92924200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:92923200-92924200	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr5:92923200-92924600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:92923200-92924600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr5:92923200-92924600	ZNF genes & repeats	Lung	lung
50	chr5:92923200-92924800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links