Variant report

Variant	esv3324210
Chromosome Location	chr5:111754678-111757226
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	BACH1	chr5:111755202-111756433	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:111754600-111754912	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr5:111755998-111756271	K562	blood:	n/a	n/a
4	BRCA1	chr5:111755491-111756311	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr5:111756129-111756329	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr5:111755915-111756300	K562	blood:	n/a	n/a
7	CCNT2	chr5:111755521-111756328	K562	blood:	n/a	n/a
8	CEBPB	chr5:111755977-111756372	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:111756083-111756185	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr5:111755542-111755646	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:111755063-111755261	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr5:111756075-111756089	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr5:111755303-111755433	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr5:111756046-111756305	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr5:111756041-111756188	K562	blood:	n/a	n/a
16	CHD2	chr5:111754807-111756335	Hela-S3	cervix:	n/a	chr5:111755760-111755770 chr5:111755673-111755683
17	CREB1	chr5:111755765-111756309	A549	lung:	n/a	n/a
18	CTBP2	chr5:111754442-111756346	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:111755540-111755690	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr5:111755936-111756317	SK-N-SH_RA	brain:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
21	CTCF	chr5:111756080-111756230	GM12868	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
22	CTCF	chr5:111755950-111756323	H1-hESC	embryonic stem cell:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
23	CTCF	chr5:111755965-111756323	GM19240	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
24	CTCF	chr5:111755911-111756325	GM12891	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
25	CTCF	chr5:111756041-111756288	GM13976	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
26	CTCF	chr5:111755927-111756339	HepG2	liver:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
27	CTCF	chr5:111756100-111756250	GM12878	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
28	CTCF	chr5:111755987-111756310	GM12878	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
29	CTCF	chr5:111756080-111756230	HAc	cerebellar:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
30	CTCF	chr5:111755697-111755777	GM13977	blood:	n/a	n/a
31	CTCF	chr5:111756080-111756230	HPF	lung:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
32	CTCF	chr5:111756060-111756210	HCFaa	heart:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
33	CTCF	chr5:111755955-111756280	A549	lung:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
34	CTCF	chr5:111755986-111756279	HepG2	liver:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
35	CTCF	chr5:111755709-111755809	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:111756100-111756250	GM12875	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
37	CTCF	chr5:111756120-111756270	BJ	skin:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
38	CTCF	chr5:111756000-111756311	Hela-S3	cervix:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
39	CTCF	chr5:111754700-111754850	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr5:111756040-111756190	GM12870	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
41	CTCF	chr5:111756060-111756210	GM12871	blood:	n/a	chr5:111756140-111756158 chr5:111756146-111756155 chr5:111756135-111756156
42	CTCF	chr5:111756011-111756279	SK-N-SH_RA	brain:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
43	CTCF	chr5:111756100-111756250	HMF	breast:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
44	CTCF	chr5:111756100-111756250	A549	lung:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
45	CTCF	chr5:111756040-111756190	HL-60	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
46	CTCF	chr5:111755966-111756317	Kidney_OC	kidney:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
47	CTCF	chr5:111756100-111756250	Caco-2	colon:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
48	CTCF	chr5:111755937-111756307	K562	blood:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
49	CTCF	chr5:111756060-111756210	AoAF	blood vessel:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155
50	CTCF	chr5:111756060-111756210	AG09309	skin:	n/a	chr5:111756140-111756158 chr5:111756135-111756156 chr5:111756146-111756155

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111756360-111756410	T-47D	breast:	n/a
2	chr5:111756360-111756410	T-47D	breast:	n/a
3	chr5:111756360-111756410	IMR90	lung:	fetal
4	chr5:111754862-111754912	U87	brain:	n/a
5	chr5:111755158-111755208	Hepatocyte	liver:	n/a
6	chr5:111755067-111755117	HepG2	liver:	n/a
7	chr5:111755041-111755091	HCT-116	colon:	n/a
8	chr5:111756360-111756410	Jurkat	blood:	n/a
9	chr5:111755158-111755208	LNCaP	prostate:	n/a
10	chr5:111756360-111756410	AG09309	skin:	n/a
11	chr5:111755067-111755117	HRPEpiC	eye:	n/a
12	chr5:111756360-111756410	U87	brain:	n/a
13	chr5:111755053-111755103	GM19239	blood:	n/a
14	chr5:111755158-111755208	BE2_C	brain:	n/a
15	chr5:111754862-111754912	SAEC	small airway:	n/a
16	chr5:111755053-111755103	PANC-1	pancreas:	n/a
17	chr5:111755514-111755564	HRE	kidney:	n/a
18	chr5:111755041-111755091	ECC-1	luminal epithelium:	n/a
19	chr5:111755481-111755531	GM06990	blood:	n/a
20	chr5:111756104-111756154	HUVEC	blood vessel:	n/a
21	chr5:111756360-111756410	GM12892	blood:	n/a
22	chr5:111755067-111755117	Jurkat	blood:	n/a
23	chr5:111754862-111754912	BJ	skin:	n/a
24	chr5:111755053-111755103	U87	brain:	n/a
25	chr5:111754862-111754912	AoSMC	blood vessel:	n/a
26	chr5:111756360-111756410	Hepatocyte	liver:	n/a
27	chr5:111755067-111755117	NH-A	brain:	n/a
28	chr5:111755158-111755208	GM12892	blood:	n/a
29	chr5:111756104-111756154	AG09309	skin:	n/a
30	chr5:111755481-111755531	CMK	blood:	n/a
31	chr5:111755067-111755117	SKMC	muscle:	n/a
32	chr5:111755158-111755208	SK-N-SH	brain:	n/a
33	chr5:111756360-111756410	GM06990	blood:	n/a
34	chr5:111756360-111756410	SKMC	muscle:	n/a
35	chr5:111755041-111755091	AG04450	lung:	fetal
36	chr5:111756360-111756410	Caco-2	colon:	n/a
37	chr5:111755067-111755117	H1-hESC	embryonic stem cell:	embryo
38	chr5:111755514-111755564	AG10803	skin:	n/a
39	chr5:111755041-111755091	HIPEpiC	eye:	n/a
40	chr5:111755067-111755117	AG04450	lung:	fetal
41	chr5:111755158-111755208	K562	blood:	n/a
42	chr5:111754862-111754912	AG10803	skin:	n/a
43	chr5:111756104-111756154	GM12878	blood:	n/a
44	chr5:111755481-111755531	GM19239	blood:	n/a
45	chr5:111755432-111755482	HCM	heart:	n/a
46	chr5:111755432-111755482	AG04449	skin:	fetal
47	chr5:111755514-111755564	HEEpiC	esophagus:	n/a
48	chr5:111755158-111755208	Caco-2	colon:	n/a
49	chr5:111755432-111755482	GM12891	blood:	n/a
50	chr5:111755041-111755091	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:111545766..111546849-chr5:111755716..111756742,6	MCF-7	breast:
2	chr5:111701962..111704282-chr5:111752364..111755005,2	MCF-7	breast:
3	chr5:111755601..111756408-chr5:111827657..111828626,3	MCF-7	breast:
4	chr5:111510545..111511303-chr5:111755668..111756501,4	K562	blood:
5	chr5:111495302..111497808-chr5:111754204..111756858,3	MCF-7	breast:
6	chr5:111545807..111546357-chr5:111755716..111756657,2	K562	blood:
7	chr5:111496976..111498708-chr5:111754134..111756098,2	MCF-7	breast:
8	chr5:111707943..111708524-chr5:111755720..111756286,2	MCF-7	breast:
9	chr5:111755900..111757057-chr5:111827707..111828682,4	MCF-7	breast:
10	chr5:111625171..111625881-chr5:111755632..111756304,4	MCF-7	breast:
11	chr5:111510679..111511249-chr5:111755846..111756377,2	MCF-7	breast:
12	chr5:111545812..111546719-chr5:111755708..111756545,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APC-8	chr5:111755280-111756677	NONHSAT103228

Variant related genes	Relation type
EPB41L4A-AS2	TF binding region
EPB41L4A	TF binding region
EPB41L4A-AS2	CpG island
EPB41L4A	CpG island
ENSG00000224032	chromatin interactions
ENSG00000238363	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376831986	chr5:111754686-111754687	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs544377230	chr5:111754687-111754688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs199684882	chr5:111754696-111754697	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs544682638	chr5:111754707-111754708	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200648466	chr5:111754732-111754733	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7711853	chr5:111754737-111754738	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369055745	chr5:111754740-111754741	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs561096969	chr5:111754752-111754753	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372141520	chr5:111754764-111754765	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201471943	chr5:111754779-111754780	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs376724494	chr5:111754786-111754787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565057370	chr5:111754828-111754829	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369663074	chr5:111754835-111754836	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3749742	chr5:111754851-111754852	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532145405	chr5:111754870-111754871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs566614340	chr5:111754872-111754873	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534070672	chr5:111754880-111754881	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549144439	chr5:111754916-111754917	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs567553429	chr5:111754920-111754921	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538070633	chr5:111754925-111754926	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556787028	chr5:111754933-111754934	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs114722971	chr5:111754966-111754967	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538620818	chr5:111754969-111754970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553535079	chr5:111754985-111754986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs572149397	chr5:111755010-111755011	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs542780272	chr5:111755042-111755043	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs3749743	chr5:111755051-111755052	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78728513	chr5:111755068-111755069	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs543257791	chr5:111755069-111755070	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs565144084	chr5:111755100-111755101	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs115511297	chr5:111755145-111755146	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs551746149	chr5:111755168-111755169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs183684119	chr5:111755189-111755190	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs371083644	chr5:111755213-111755214	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs527764712	chr5:111755214-111755215	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs549030243	chr5:111755222-111755223	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs567441659	chr5:111755231-111755232	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs538395425	chr5:111755238-111755239	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs550149354	chr5:111755240-111755241	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs571906853	chr5:111755254-111755255	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538992160	chr5:111755268-111755269	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs553789285	chr5:111755313-111755314	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs572039084	chr5:111755359-111755360	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs536276674	chr5:111755360-111755361	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs13354202	chr5:111755408-111755409	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576063539	chr5:111755411-111755412	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs61730664	chr5:111755447-111755448	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs150174424	chr5:111755462-111755463	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs71579184	chr5:111755487-111755488	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs114273567	chr5:111755508-111755509	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111752800-111755200	Active TSS	Psoas Muscle	Psoas
2	chr5:111752800-111756200	Active TSS	Right Atrium	heart
3	chr5:111752800-111756400	Active TSS	Aorta	Aorta
4	chr5:111753000-111756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:111753000-111756600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:111753200-111756400	Active TSS	Fetal Heart	heart
7	chr5:111753400-111756000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr5:111753400-111756000	Active TSS	Placenta	Placenta
9	chr5:111753400-111756000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:111753400-111756200	Active TSS	Brain Cingulate Gyrus	brain
11	chr5:111753400-111756200	Active TSS	Brain Substantia Nigra	brain
12	chr5:111753400-111756200	Active TSS	Fetal Kidney	kidney
13	chr5:111753400-111756200	Active TSS	NHDF-Ad	bronchial
14	chr5:111753400-111756400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr5:111753400-111756400	Active TSS	Ovary	ovary
16	chr5:111753400-111756400	Active TSS	Right Ventricle	heart
17	chr5:111753400-111756600	Active TSS	Brain Angular Gyrus	brain
18	chr5:111753600-111754800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
19	chr5:111753600-111754800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr5:111753600-111755000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:111753600-111755200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
22	chr5:111753600-111755200	Active TSS	Colonic Mucosa	Colon
23	chr5:111753600-111755800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:111753600-111755800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:111753600-111756000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
26	chr5:111753600-111756200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:111753600-111756200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:111753600-111756200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:111753600-111756200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:111753600-111756200	Active TSS	Colon Smooth Muscle	Colon
31	chr5:111753600-111756200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr5:111753600-111756200	Active TSS	Gastric	stomach
33	chr5:111753600-111756200	Active TSS	Lung	lung
34	chr5:111753600-111756200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:111753600-111756200	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:111753600-111756200	Bivalent/Poised TSS	Thymus	Thymus
37	chr5:111753600-111756200	Active TSS	Hela-S3	cervix
38	chr5:111753600-111756400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:111753600-111756400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:111753600-111756400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:111753600-111756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:111753600-111756400	Active TSS	Esophagus	oesophagus
43	chr5:111753600-111756400	Active TSS	Left Ventricle	heart
44	chr5:111753600-111756400	Bivalent/Poised TSS	A549	lung
45	chr5:111753600-111756400	Bivalent/Poised TSS	HSMM	muscle
46	chr5:111753600-111756600	Active TSS	Brain Anterior Caudate	brain
47	chr5:111753800-111754800	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:111753800-111755000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr5:111753800-111755200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:111753800-111755400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links