Variant report

Variant	esv1833901
Chromosome Location	chr5:14871952-14884822
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	chr5:14874566-14874709	K562	blood:	n/a	n/a
2	ATF3	chr5:14871995-14872172	K562	blood:	n/a	n/a
3	BACH1	chr5:14872044-14872466	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr5:14871799-14872204	HepG2	liver:	n/a	n/a
5	BHLHE40	chr5:14872034-14872193	K562	blood:	n/a	n/a
6	BHLHE40	chr5:14871725-14872235	GM12878	blood:	n/a	n/a
7	BRCA1	chr5:14872602-14873086	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr5:14871835-14872494	K562	blood:	n/a	chr5:14872293-14872302 chr5:14872391-14872400 chr5:14872300-14872309
9	CEBPB	chr5:14880202-14880904	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
10	CEBPB	chr5:14880127-14881193	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
11	CEBPB	chr5:14880322-14880708	ECC-1	luminal epithelium:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
12	CEBPB	chr5:14873320-14873352	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr5:14880115-14880761	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
14	CEBPB	chr5:14880056-14881209	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
15	CEBPB	chr5:14880083-14881155	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
16	CEBPB	chr5:14880164-14880873	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
17	CEBPB	chr5:14880103-14881139	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
18	CEBPB	chr5:14880267-14880698	ECC-1	luminal epithelium:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
19	CEBPB	chr5:14880424-14880576	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
20	CEBPB	chr5:14880202-14880784	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
21	CEBPB	chr5:14880147-14880822	HCT-116	colon:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
22	CEBPB	chr5:14875565-14875768	A549	lung:	n/a	chr5:14875646-14875659 chr5:14875648-14875659
23	CEBPB	chr5:14880079-14881172	IMR90	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
24	CEBPB	chr5:14880325-14880696	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
25	CEBPB	chr5:14880417-14880605	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
26	CEBPB	chr5:14871936-14873092	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr5:14880249-14880712	H1-hESC	embryonic stem cell:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
28	CEBPB	chr5:14879942-14881166	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
29	CEBPB	chr5:14880145-14880333	HepG2	liver:	n/a	n/a
30	CEBPB	chr5:14877361-14877535	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr5:14879589-14881286	Hela-S3	cervix:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
32	CEBPD	chr5:14880110-14880578	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880527-14880538
33	CHD1	chr5:14871627-14873214	IMR90	lung:	n/a	chr5:14872382-14872392
34	CHD2	chr5:14871121-14873136	Hela-S3	cervix:	n/a	chr5:14872382-14872392
35	CHD2	chr5:14880840-14881034	Hela-S3	cervix:	n/a	n/a
36	CREB1	chr5:14871774-14872629	A549	lung:	n/a	n/a
37	CREB1	chr5:14872798-14873191	GM12878	blood:	n/a	n/a
38	CREB1	chr5:14871550-14872537	HepG2	liver:	n/a	n/a
39	CTCF	chr5:14872000-14872150	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr5:14871948-14872216	GM12891	blood:	n/a	n/a
41	CTCF	chr5:14872320-14872470	HMF	breast:	n/a	chr5:14872424-14872437
42	CTCF	chr5:14872420-14872570	AG09309	skin:	n/a	chr5:14872424-14872437
43	CTCF	chr5:14872380-14872530	GM12869	blood:	n/a	chr5:14872424-14872437
44	CTCF	chr5:14872280-14872430	K562	blood:	n/a	n/a
45	CTCF	chr5:14872360-14872510	WERI-Rb-1	eye:	n/a	chr5:14872424-14872437
46	CTCF	chr5:14871987-14872164	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:14871954-14872198	K562	blood:	n/a	n/a
48	CTCF	chr5:14871956-14872199	NHEK	skin:	n/a	n/a
49	CTCF	chr5:14871960-14872110	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr5:14871980-14872130	HMEC	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14872551-14872601	HAEpiC	amniotic membrane:	n/a
2	chr5:14872551-14872601	HAEpiC	amniotic membrane:	n/a
3	chr5:14871910-14871960	PrEC	prostate:	n/a
4	chr5:14873039-14873089	NHBE	bronchial:	n/a
5	chr5:14872551-14872601	NT2-D1	testis:	n/a
6	chr5:14872612-14872662	BJ	skin:	n/a
7	chr5:14873039-14873089	SAEC	small airway:	n/a
8	chr5:14871910-14871960	NHBE	bronchial:	n/a
9	chr5:14872612-14872662	GM12892	blood:	n/a
10	chr5:14871910-14871960	HRCEpiC	kidney:	n/a
11	chr5:14872384-14872434	AG09309	skin:	n/a
12	chr5:14872207-14872257	HL-60	blood:	n/a
13	chr5:14874832-14874882	HNPCEpiC	eye:	n/a
14	chr5:14871908-14871958	HCPEpiC	choroid plexus:	n/a
15	chr5:14874832-14874882	GM12878	blood:	n/a
16	chr5:14872934-14872984	MCF-7	breast:	n/a
17	chr5:14874549-14874599	HRCEpiC	kidney:	n/a
18	chr5:14871908-14871958	AG09319	gingival:	n/a
19	chr5:14874832-14874882	AG09319	gingival:	n/a
20	chr5:14872934-14872984	HEEpiC	esophagus:	n/a
21	chr5:14871908-14871958	NH-A	brain:	n/a
22	chr5:14872612-14872662	SK-N-SH_RA	brain:	n/a
23	chr5:14873039-14873089	AG09319	gingival:	n/a
24	chr5:14873039-14873089	NB4	blood:	n/a
25	chr5:14873039-14873089	A549	lung:	n/a
26	chr5:14871908-14871958	ovcar-3	ovarian:	n/a
27	chr5:14872551-14872601	HRCEpiC	kidney:	n/a
28	chr5:14872551-14872601	BE2_C	brain:	n/a
29	chr5:14872384-14872434	LNCaP	prostate:	n/a
30	chr5:14874832-14874882	MCF-7	breast:	n/a
31	chr5:14872551-14872601	HEK293	kidney:	embryo
32	chr5:14872934-14872984	PFSK-1	brain:	n/a
33	chr5:14872384-14872434	HCF	heart:	n/a
34	chr5:14872612-14872662	HUVEC	blood vessel:	n/a
35	chr5:14871910-14871960	SK-N-MC	brain:	n/a
36	chr5:14872934-14872984	Hela-S3	cervix:	n/a
37	chr5:14872384-14872434	AG09319	gingival:	n/a
38	chr5:14872384-14872434	GM06990	blood:	n/a
39	chr5:14871910-14871960	Hela-S3	cervix:	n/a
40	chr5:14873039-14873089	MCF10A-Er-Src	breast:	n/a
41	chr5:14873039-14873089	ovcar-3	ovarian:	n/a
42	chr5:14872612-14872662	SK-N-SH	brain:	n/a
43	chr5:14872612-14872662	HIPEpiC	eye:	n/a
44	chr5:14873039-14873089	HEK293	kidney:	embryo
45	chr5:14874549-14874599	HCPEpiC	choroid plexus:	n/a
46	chr5:14872384-14872434	HEEpiC	esophagus:	n/a
47	chr5:14874832-14874882	HCT-116	colon:	n/a
48	chr5:14874832-14874882	AG10803	skin:	n/a
49	chr5:14872551-14872601	LNCaP	prostate:	n/a
50	chr5:14873039-14873089	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
2	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
3	chr10:93683034..93683876-chr5:14871412..14872027,2	Hela-S3	cervix:
4	chr16:15736896..15737522-chr5:14872268..14872832,2	Hela-S3	cervix:
5	chr12:56511621..56512291-chr5:14872089..14872740,2	Hela-S3	cervix:
6	chr5:14870886..14872495-chr5:14882830..14884437,2	K562	blood:
7	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
8	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
9	chr5:14879517..14881326-chr5:14882980..14885197,2	MCF-7	breast:
10	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
11	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:
12	chr5:14879517..14881326-chr5:14882980..14885197,2	MCF-7	breast:
13	chr5:14765139..14767276-chr5:14879416..14882042,3	MCF-7	breast:
14	chr5:14882521..14884464-chr5:14889491..14892449,2	K562	blood:
15	chr17:41465783..41466320-chr5:14871948..14872665,2	Hela-S3	cervix:
16	chr5:14871557..14872468-chr8:128747896..128748761,2	NB4	blood:
17	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-8	chr5:14872441-14872822	ENSG00000272057.1
2	lnc-ANKH-5	chr5:14877776-14878028	NONHSAT100570

Variant related genes	Relation type
ENSG00000272057	TF binding region
ANKH	TF binding region
HNRNPKP5	TF binding region
UQCRBP3	TF binding region
ENSG00000272057	CpG island
ANKH	CpG island
HNRNPKP5	CpG island
UQCRBP3	CpG island
ENSG00000072864	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000249928	chromatin interactions
ENSG00000095564	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000272057	chromatin interactions
ENSG00000250662	chromatin interactions
ENSG00000272213	chromatin interactions
ENSG00000166783	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000154122	chromatin interactions

Extended variants
information (count: 460 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552191015	chr5:14872094-14872095	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs570469279	chr5:14872299-14872300	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs542053504	chr5:14872314-14872315	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs531584604	chr5:14872323-14872324	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs549825981	chr5:14872482-14872483	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
6	rs535274612	chr5:14872502-14872503	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
7	rs548077991	chr5:14872506-14872507	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
8	rs139418249	chr5:14872520-14872521	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs111243204	chr5:14872543-14872544	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs186377067	chr5:14872544-14872545	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
11	rs397881669	chr5:14872550-14872551	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
12	rs575355715	chr5:14872585-14872586	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
13	rs577190366	chr5:14872620-14872621	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
14	rs545760355	chr5:14872622-14872623	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
15	rs2934814	chr5:14872689-14872690	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs556563717	chr5:14872698-14872699	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs575105680	chr5:14872741-14872742	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs190192041	chr5:14872763-14872764	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs560707057	chr5:14872789-14872790	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs374808797	chr5:14872824-14872825	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs528343316	chr5:14872851-14872852	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs527338717	chr5:14872886-14872887	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs147968094	chr5:14872902-14872903	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545915693	chr5:14872931-14872932	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs181892932	chr5:14872953-14872954	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs564039861	chr5:14873053-14873054	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs531194771	chr5:14873124-14873125	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs549779205	chr5:14873168-14873169	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs561834037	chr5:14873190-14873191	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs529230742	chr5:14873191-14873192	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs75496975	chr5:14873242-14873243	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs835158	chr5:14873254-14873255	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs562048276	chr5:14873259-14873260	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534002035	chr5:14873274-14873275	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs552269792	chr5:14873315-14873316	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs529075222	chr5:14873338-14873339	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77110491	chr5:14873456-14873457	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs186169118	chr5:14873482-14873483	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs556568159	chr5:14873495-14873496	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs143779515	chr5:14873513-14873514	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs191024047	chr5:14873568-14873569	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs139584186	chr5:14873622-14873623	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs554356935	chr5:14873630-14873631	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs183327743	chr5:14873641-14873642	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs371441931	chr5:14873735-14873736	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs56997802	chr5:14873866-14873867	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs568936047	chr5:14873897-14873898	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs545878596	chr5:14873903-14873904	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564150215	chr5:14873930-14873931	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199701273	chr5:14873940-14873941	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:14869400-14873000	Active TSS	Aorta	Aorta
3	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
5	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
6	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
7	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
9	chr5:14870000-14872000	Active TSS	Right Atrium	heart
10	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
12	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
13	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
15	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
16	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
19	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr5:14870200-14872800	Active TSS	NHLF	lung
22	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr5:14870200-14873000	Active TSS	Gastric	stomach
25	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
26	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
28	chr5:14870200-14873000	Active TSS	Osteobl	bone
29	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain
31	chr5:14870200-14873200	Active TSS	Brain Anterior Caudate	brain
32	chr5:14870200-14873200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr5:14870400-14872800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr5:14870400-14873000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:14870400-14873200	Active TSS	Colon Smooth Muscle	Colon
37	chr5:14870600-14872400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:14870600-14872800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:14870600-14872800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:14870600-14872800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr5:14870600-14872800	Active TSS	A549	lung
42	chr5:14870600-14873000	Active TSS	NHDF-Ad	bronchial
43	chr5:14870600-14873200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:14870600-14873200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:14870800-14872000	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr5:14870800-14872400	Bivalent/Poised TSS	Fetal Thymus	thymus
47	chr5:14870800-14872600	Active TSS	Primary T cells fromperipheralblood	blood
48	chr5:14870800-14872600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:14870800-14872600	Active TSS	Stomach Smooth Muscle	stomach
50	chr5:14870800-14872600	Active TSS	HMEC	breast

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