Variant report

Variant	nsv568773
Chromosome Location	chr15:31616674-31619868
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	chr15:31618589-31618992	K562	blood:	n/a	n/a
2	ARID3A	chr15:31618550-31618737	HepG2	liver:	n/a	n/a
3	ATF1	chr15:31618502-31618980	K562	blood:	n/a	n/a
4	ATF2	chr15:31618283-31619194	GM12878	blood:	n/a	chr15:31618978-31618992
5	ATF2	chr15:31617290-31617914	GM12878	blood:	n/a	n/a
6	ATF3	chr15:31618605-31619046	K562	blood:	n/a	chr15:31618970-31618990 chr15:31618976-31618990 chr15:31618669-31618679 chr15:31618905-31618914
7	BACH1	chr15:31617766-31617779	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr15:31618840-31621115	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr15:31617301-31617614	GM12878	blood:	n/a	n/a
10	BCL11A	chr15:31617324-31617690	GM12878	blood:	n/a	n/a
11	BCL11A	chr15:31617365-31617554	GM12878	blood:	n/a	n/a
12	BCL3	chr15:31617847-31618839	A549	lung:	n/a	chr15:31617883-31617896 chr15:31617885-31617898 chr15:31618149-31618162 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618212-31618225 chr15:31618612-31618625
13	BCL3	chr15:31617942-31619239	GM12878	blood:	n/a	chr15:31618938-31618947 chr15:31618149-31618162 chr15:31618933-31618946 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618932-31618945 chr15:31618212-31618225 chr15:31618935-31618948 chr15:31618612-31618625
14	BCLAF1	chr15:31617969-31618750	GM12878	blood:	n/a	chr15:31618149-31618162 chr15:31618360-31618373 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618212-31618225 chr15:31618612-31618625
15	BCLAF1	chr15:31616995-31617967	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31617885-31617898 chr15:31617222-31617229
16	BCLAF1	chr15:31616819-31619281	GM12878	blood:	n/a	chr15:31617883-31617896 chr15:31618938-31618947 chr15:31617885-31617898 chr15:31618149-31618162 chr15:31618933-31618946 chr15:31618360-31618373 chr15:31619243-31619256 chr15:31618099-31618112 chr15:31618424-31618433 chr15:31618661-31618670 chr15:31618494-31618507 chr15:31618416-31618429 chr15:31618932-31618945 chr15:31618212-31618225 chr15:31618935-31618948 chr15:31617222-31617229 chr15:31618612-31618625
17	BHLHE40	chr15:31618206-31619189	HepG2	liver:	n/a	chr15:31618319-31618335 chr15:31618422-31618438 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31619154-31619170
18	BHLHE40	chr15:31618246-31621387	K562	blood:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31619262-31619278 chr15:31618319-31618335 chr15:31618422-31618438 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620142-31620158 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31620315-31620331 chr15:31619154-31619170 chr15:31620821-31620837
19	BHLHE40	chr15:31618121-31619637	GM12878	blood:	n/a	chr15:31619262-31619278 chr15:31618319-31618335 chr15:31618143-31618159 chr15:31618422-31618438 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31619154-31619170
20	BHLHE40	chr15:31617318-31617910	GM12878	blood:	n/a	n/a
21	BRCA1	chr15:31618538-31618564	HepG2	liver:	n/a	n/a
22	BRCA1	chr15:31618323-31618891	Hela-S3	cervix:	n/a	n/a
23	CCNT2	chr15:31617711-31620924	K562	blood:	n/a	chr15:31618905-31618914 chr15:31617900-31617909 chr15:31620285-31620294
24	CEBPB	chr15:31618305-31619136	Hela-S3	cervix:	n/a	n/a
25	CEBPD	chr15:31618402-31619106	HepG2	liver:	n/a	n/a
26	CHD1	chr15:31616631-31618762	GM12878	blood:	n/a	n/a
27	CHD1	chr15:31617210-31621792	IMR90	lung:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
28	CHD1	chr15:31618979-31620122	GM12878	blood:	n/a	chr15:31620036-31620046 chr15:31620076-31620086
29	CHD2	chr15:31618203-31619255	HepG2	liver:	n/a	n/a
30	CHD2	chr15:31617575-31619605	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr15:31617854-31617859	K562	blood:	n/a	n/a
32	CHD2	chr15:31618493-31619111	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr15:31618484-31618982	K562	blood:	n/a	n/a
34	CHD2	chr15:31617045-31619545	GM12878	blood:	n/a	n/a
35	CHD2	chr15:31619810-31620094	GM12878	blood:	n/a	chr15:31620036-31620046 chr15:31620076-31620086
36	CREB1	chr15:31618466-31619104	A549	lung:	n/a	n/a
37	CREB1	chr15:31618444-31618928	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr15:31618381-31619215	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr15:31617951-31619515	HepG2	liver:	n/a	n/a
40	CREB1	chr15:31618365-31619455	K562	blood:	n/a	n/a
41	CREB1	chr15:31618287-31619461	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr15:31618364-31619213	K562	blood:	n/a	n/a
43	CREB1	chr15:31617672-31619746	A549	lung:	n/a	n/a
44	CREB1	chr15:31617727-31619445	GM12878	blood:	n/a	n/a
45	CTBP2	chr15:31618065-31619538	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr15:31618572-31618616	GM19239	blood:	n/a	n/a
47	CTCF	chr15:31619542-31619546	GM19239	blood:	n/a	n/a
48	CTCF	chr15:31618560-31618710	AG04449	skin:	n/a	n/a
49	CTCF	chr15:31618300-31618450	GM12868	blood:	n/a	n/a
50	CTCF	chr15:31618380-31618530	GM12871	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31619396-31619446	BE2_C	brain:	n/a
2	chr15:31619396-31619446	BE2_C	brain:	n/a
3	chr15:31617633-31617683	ovcar-3	ovarian:	n/a
4	chr15:31619006-31619056	NH-A	brain:	n/a
5	chr15:31619006-31619056	HMEC	breast:	n/a
6	chr15:31617537-31617587	GM12892	blood:	n/a
7	chr15:31617537-31617587	LNCaP	prostate:	n/a
8	chr15:31618618-31618668	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:31619396-31619446	HEK293	kidney:	embryo
10	chr15:31619399-31619449	U87	brain:	n/a
11	chr15:31619399-31619449	PANC-1	pancreas:	n/a
12	chr15:31619399-31619449	ECC-1	luminal epithelium:	n/a
13	chr15:31618604-31618654	AG04449	skin:	fetal
14	chr15:31618618-31618668	IMR90	lung:	fetal
15	chr15:31617537-31617587	HRPEpiC	eye:	n/a
16	chr15:31618618-31618668	AG04449	skin:	fetal
17	chr15:31619399-31619449	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:31617764-31617814	Caco-2	colon:	n/a
19	chr15:31619399-31619449	GM12878	blood:	n/a
20	chr15:31617537-31617587	BE2_C	brain:	n/a
21	chr15:31618604-31618654	HCPEpiC	choroid plexus:	n/a
22	chr15:31619006-31619056	A549	lung:	n/a
23	chr15:31617764-31617814	Jurkat	blood:	n/a
24	chr15:31617537-31617587	IMR90	lung:	fetal
25	chr15:31617537-31617587	NHBE	bronchial:	n/a
26	chr15:31619399-31619449	NHDF-neo	bronchial:	n/a
27	chr15:31618618-31618668	HCT-116	colon:	n/a
28	chr15:31618604-31618654	GM12892	blood:	n/a
29	chr15:31619399-31619449	AoSMC	blood vessel:	n/a
30	chr15:31617537-31617587	HMEC	breast:	n/a
31	chr15:31618618-31618668	SK-N-SH_RA	brain:	n/a
32	chr15:31617764-31617814	AG10803	skin:	n/a
33	chr15:31617633-31617683	AG09309	skin:	n/a
34	chr15:31619396-31619446	NT2-D1	testis:	n/a
35	chr15:31619396-31619446	HPAEpiC	pulmonary alveolar:	n/a
36	chr15:31619396-31619446	HNPCEpiC	eye:	n/a
37	chr15:31617633-31617683	GM06990	blood:	n/a
38	chr15:31619396-31619446	HAEpiC	amniotic membrane:	n/a
39	chr15:31617764-31617814	NHBE	bronchial:	n/a
40	chr15:31617537-31617587	HL-60	blood:	n/a
41	chr15:31618604-31618654	MCF-7	breast:	n/a
42	chr15:31617537-31617587	GM12891	blood:	n/a
43	chr15:31617633-31617683	AoSMC	blood vessel:	n/a
44	chr15:31617537-31617587	PANC-1	pancreas:	n/a
45	chr15:31617537-31617587	A549	lung:	n/a
46	chr15:31617633-31617683	NH-A	brain:	n/a
47	chr15:31619396-31619446	NB4	blood:	n/a
48	chr15:31619396-31619446	HRPEpiC	eye:	n/a
49	chr15:31618618-31618668	HIPEpiC	eye:	n/a
50	chr15:31619399-31619449	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr15:31618609..31619470-chr7:143077778..143078496,2	Hela-S3	cervix:
2	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:
3	chr15:31618668..31619569-chr2:9770552..9771168,2	HCT-116	colon:
4	chr15:31618617..31619175-chr17:76920900..76921481,2	Hela-S3	cervix:
5	chr15:31618149..31620497-chr15:31657004..31658970,2	MCF-7	breast:
6	chr15:31618253..31621608-chr15:31655043..31658553,3	K562	blood:
7	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
8	chr15:31618838..31621702-chr15:31631313..31632972,2	MCF-7	breast:
9	chr15:31615051..31617348-chr15:31618558..31620295,2	MCF-7	breast:
10	chr15:31507333..31508207-chr15:31618137..31618644,2	MCF-7	breast:
11	chr15:31618754..31620549-chr15:31631588..31633647,2	K562	blood:
12	chr15:31619156..31619701-chr5:40678819..40679598,2	Hela-S3	cervix:
13	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
14	chr15:31615054..31617899-chr15:31634755..31636481,2	MCF-7	breast:
15	chr15:31618168..31621382-chr15:31631982..31634646,4	MCF-7	breast:
16	chr15:31617830..31618662-chr8:43094478..43095043,2	MCF-7	breast:
17	chr15:31619684..31620471-chr16:30709793..30710319,2	Hela-S3	cervix:
18	chr15:31618649..31619470-chr7:86781497..86782119,2	Hela-S3	cervix:
19	chr15:31507690..31508326-chr15:31619594..31620115,2	MCF-7	breast:
20	chr15:31619043..31619728-chr17:62340009..62340776,2	Hela-S3	cervix:
21	chr15:31618837..31619492-chr17:8286314..8286908,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAN1-2	chr15:31619770-31619992	NONHSAT041444

Variant related genes	Relation type
KLF13	TF binding region
KLF13	CpG island
ENSG00000159840	chromatin interactions
ENSG00000259448	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000136478	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000161970	chromatin interactions
ENSG00000263809	chromatin interactions
ENSG00000134308	chromatin interactions
ENSG00000035862	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11633005	chr15:31616674-31616675	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62037889	chr15:31616681-31616682	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115666284	chr15:31616712-31616713	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs542641638	chr15:31616720-31616721	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370065931	chr15:31616775-31616776	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143177530	chr15:31616778-31616779	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114181958	chr15:31616797-31616798	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565190464	chr15:31616799-31616800	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527493011	chr15:31616834-31616835	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547328197	chr15:31616846-31616847	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74010610	chr15:31616854-31616855	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561280508	chr15:31616922-31616923	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs148279596	chr15:31616927-31616928	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569682861	chr15:31616929-31616930	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs535751009	chr15:31616944-31616945	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs77328927	chr15:31616950-31616951	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs535650625	chr15:31616997-31616998	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552303307	chr15:31617008-31617009	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs565629511	chr15:31617028-31617029	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141739289	chr15:31617042-31617043	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs56674230	chr15:31617053-31617054	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567984989	chr15:31617097-31617098	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs536566629	chr15:31617158-31617159	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs556412760	chr15:31617174-31617175	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs576034310	chr15:31617181-31617182	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs544963621	chr15:31617188-31617189	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565733668	chr15:31617239-31617240	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559047628	chr15:31617256-31617257	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs146254602	chr15:31617259-31617260	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs573906621	chr15:31617282-31617283	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs139153259	chr15:31617288-31617289	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560907537	chr15:31617299-31617300	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529993663	chr15:31617305-31617306	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs111402468	chr15:31617317-31617318	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs543760571	chr15:31617328-31617329	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs189775865	chr15:31617333-31617334	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181754959	chr15:31617370-31617371	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs76020996	chr15:31617405-31617406	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187410165	chr15:31617465-31617466	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs3803553	chr15:31617476-31617477	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548235017	chr15:31617524-31617525	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs567543358	chr15:31617526-31617527	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536403302	chr15:31617562-31617563	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs547084901	chr15:31617618-31617619	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556452198	chr15:31617633-31617634	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570008008	chr15:31617657-31617658	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs569247394	chr15:31617686-31617687	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs558656310	chr15:31617703-31617704	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs386782657	chr15:31617786-31617787	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs6493604	chr15:31617788-31617789	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31606800-31617200	Weak transcription	Spleen	Spleen
2	chr15:31607800-31616800	Enhancers	Fetal Thymus	thymus
3	chr15:31609200-31617000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:31609600-31616800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:31610400-31617000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:31610400-31617200	Weak transcription	Fetal Brain Female	brain
7	chr15:31610800-31617000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:31612000-31617000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:31612400-31617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:31612800-31616800	Weak transcription	Dnd41	blood
11	chr15:31613800-31617000	Weak transcription	Esophagus	oesophagus
12	chr15:31614600-31617000	Enhancers	Primary T cells from cord blood	blood
13	chr15:31614800-31617000	Weak transcription	Fetal Intestine Large	intestine
14	chr15:31614800-31617200	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:31615200-31616800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:31615200-31616800	Weak transcription	Fetal Intestine Small	intestine
17	chr15:31615200-31616800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr15:31615400-31616800	Weak transcription	Hela-S3	cervix
19	chr15:31615400-31617000	Enhancers	Fetal Heart	heart
20	chr15:31615600-31617200	Weak transcription	HepG2	liver
21	chr15:31615800-31617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:31615800-31617200	Enhancers	Adipose Nuclei	Adipose
23	chr15:31615800-31617200	Enhancers	Brain Hippocampus Middle	brain
24	chr15:31615800-31617400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:31615800-31617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:31616000-31617000	Enhancers	Brain Germinal Matrix	brain
27	chr15:31616000-31617000	Weak transcription	Pancreas	Pancrea
28	chr15:31616000-31617200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr15:31616000-31617200	Enhancers	Brain Angular Gyrus	brain
30	chr15:31616000-31617200	Enhancers	Right Atrium	heart
31	chr15:31616000-31617200	Enhancers	Right Ventricle	heart
32	chr15:31616000-31617400	Flanking Active TSS	GM12878-XiMat	blood
33	chr15:31616000-31617800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr15:31616000-31617800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:31616000-31618000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr15:31616200-31616800	Weak transcription	Left Ventricle	heart
37	chr15:31616200-31617000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr15:31616200-31617200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr15:31616200-31617200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:31616200-31617200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:31616200-31617200	Enhancers	Fetal Muscle Leg	muscle
42	chr15:31616200-31617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr15:31616200-31617400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr15:31616200-31617400	Enhancers	Fetal Lung	lung
45	chr15:31616200-31617800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr15:31616400-31616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:31616400-31616800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:31616400-31617200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr15:31616400-31617200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr15:31616400-31617200	Enhancers	Brain Substantia Nigra	brain

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