Variant report

Variant	esv1823395
Chromosome Location	chr15:31618900-31621321
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	ATF1	chr15:31618502-31618980	K562	blood:	n/a	n/a
3	ATF2	chr15:31620603-31621392	GM12878	blood:	n/a	n/a
4	ATF2	chr15:31620817-31621099	GM12878	blood:	n/a	n/a
5	ATF2	chr15:31618283-31619194	GM12878	blood:	n/a	chr15:31618978-31618992
6	ATF3	chr15:31618605-31619046	K562	blood:	n/a	chr15:31618970-31618990 chr15:31618976-31618990 chr15:31618669-31618679 chr15:31618905-31618914
7	BACH1	chr15:31620467-31620575	K562	blood:	n/a	n/a
8	BACH1	chr15:31618840-31621115	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr15:31620722-31621128	GM12878	blood:	n/a	n/a
10	BCL3	chr15:31620715-31621078	GM12878	blood:	n/a	chr15:31620878-31620891
11	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
12	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
13	BCLAF1	chr15:31620583-31621248	GM12878	blood:	n/a	chr15:31620878-31620891 chr15:31620593-31620602
14	BHLHE40	chr15:31619930-31622070	GM12878	blood:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620142-31620158 chr15:31620315-31620331 chr15:31620821-31620837
15	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
16	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
17	BHLHE40	chr15:31620283-31621504	HepG2	liver:	n/a	chr15:31621042-31621051 chr15:31621041-31621054 chr15:31621037-31621058 chr15:31621044-31621053 chr15:31620807-31620823 chr15:31620315-31620331 chr15:31620821-31620837
18	BHLHE40	chr15:31618206-31619189	HepG2	liver:	n/a	chr15:31618319-31618335 chr15:31618422-31618438 chr15:31618932-31618948 chr15:31619050-31619066 chr15:31619154-31619170
19	CCNT2	chr15:31617711-31620924	K562	blood:	n/a	chr15:31618905-31618914 chr15:31617900-31617909 chr15:31620285-31620294
20	CEBPB	chr15:31618305-31619136	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr15:31620458-31620616	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr15:31620700-31621355	GM12878	blood:	n/a	n/a
23	CEBPD	chr15:31619984-31620619	HepG2	liver:	n/a	n/a
24	CEBPD	chr15:31618402-31619106	HepG2	liver:	n/a	n/a
25	CHD1	chr15:31620349-31621401	GM12878	blood:	n/a	n/a
26	CHD1	chr15:31617210-31621792	IMR90	lung:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
27	CHD1	chr15:31618979-31620122	GM12878	blood:	n/a	chr15:31620036-31620046 chr15:31620076-31620086
28	CHD2	chr15:31620294-31621673	GM12878	blood:	n/a	n/a
29	CHD2	chr15:31617575-31619605	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr15:31618493-31619111	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr15:31620801-31620814	HepG2	liver:	n/a	n/a
32	CHD2	chr15:31618203-31619255	HepG2	liver:	n/a	n/a
33	CHD2	chr15:31619939-31620667	Hela-S3	cervix:	n/a	chr15:31620036-31620046 chr15:31620162-31620172 chr15:31620076-31620086 chr15:31620113-31620123
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	CHD2	chr15:31618484-31618982	K562	blood:	n/a	n/a
37	CREB1	chr15:31619885-31620727	A549	lung:	n/a	n/a
38	CREB1	chr15:31618364-31619213	K562	blood:	n/a	n/a
39	CREB1	chr15:31618466-31619104	A549	lung:	n/a	n/a
40	CREB1	chr15:31618287-31619461	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr15:31620169-31621234	GM12878	blood:	n/a	n/a
42	CREB1	chr15:31617951-31619515	HepG2	liver:	n/a	n/a
43	CREB1	chr15:31618444-31618928	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr15:31618365-31619455	K562	blood:	n/a	n/a
45	CREB1	chr15:31618381-31619215	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr15:31617727-31619445	GM12878	blood:	n/a	n/a
47	CREB1	chr15:31617672-31619746	A549	lung:	n/a	n/a
48	CTBP2	chr15:31618065-31619538	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr15:31619542-31619546	GM19239	blood:	n/a	n/a
50	CTCF	chr15:31620160-31620310	GM12869	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31619949-31619999	A549	lung:	n/a
2	chr15:31619949-31619999	HRPEpiC	eye:	n/a
3	chr15:31619399-31619449	HCPEpiC	choroid plexus:	n/a
4	chr15:31619399-31619449	HEEpiC	esophagus:	n/a
5	chr15:31619006-31619056	A549	lung:	n/a
6	chr15:31620290-31620340	NB4	blood:	n/a
7	chr15:31620290-31620340	RPTEC	kidney:	n/a
8	chr15:31619396-31619446	PrEC	prostate:	n/a
9	chr15:31620290-31620340	AG04450	lung:	fetal
10	chr15:31619949-31619999	HNPCEpiC	eye:	n/a
11	chr15:31619949-31619999	Caco-2	colon:	n/a
12	chr15:31619949-31619999	HCT-116	colon:	n/a
13	chr15:31619396-31619446	SAEC	small airway:	n/a
14	chr15:31619399-31619449	SK-N-SH_RA	brain:	n/a
15	chr15:31619399-31619449	GM12891	blood:	n/a
16	chr15:31620290-31620340	MCF-7	breast:	n/a
17	chr15:31620290-31620340	HCM	heart:	n/a
18	chr15:31619399-31619449	HCT-116	colon:	n/a
19	chr15:31619949-31619999	GM12892	blood:	n/a
20	chr15:31620290-31620340	HNPCEpiC	eye:	n/a
21	chr15:31619399-31619449	U87	brain:	n/a
22	chr15:31619396-31619446	HEEpiC	esophagus:	n/a
23	chr15:31619006-31619056	K562	blood:	n/a
24	chr15:31619396-31619446	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:31619949-31619999	CMK	blood:	n/a
26	chr15:31619949-31619999	SK-N-MC	brain:	n/a
27	chr15:31619396-31619446	BE2_C	brain:	n/a
28	chr15:31619006-31619056	NT2-D1	testis:	n/a
29	chr15:31620290-31620340	BE2_C	brain:	n/a
30	chr15:31619006-31619056	CMK	blood:	n/a
31	chr15:31620290-31620340	SK-N-SH	brain:	n/a
32	chr15:31619399-31619449	AoSMC	blood vessel:	n/a
33	chr15:31619006-31619056	HEEpiC	esophagus:	n/a
34	chr15:31619949-31619999	HMEC	breast:	n/a
35	chr15:31619006-31619056	PANC-1	pancreas:	n/a
36	chr15:31619949-31619999	SKMC	muscle:	n/a
37	chr15:31619006-31619056	LNCaP	prostate:	n/a
38	chr15:31619396-31619446	NHBE	bronchial:	n/a
39	chr15:31619399-31619449	AG09319	gingival:	n/a
40	chr15:31620290-31620340	AoSMC	blood vessel:	n/a
41	chr15:31619006-31619056	GM12892	blood:	n/a
42	chr15:31619396-31619446	HCT-116	colon:	n/a
43	chr15:31619396-31619446	HepG2	liver:	n/a
44	chr15:31619399-31619449	HL-60	blood:	n/a
45	chr15:31619399-31619449	HUVEC	blood vessel:	n/a
46	chr15:31619399-31619449	ProgFib	skin:	n/a
47	chr15:31619949-31619999	BE2_C	brain:	n/a
48	chr15:31619399-31619449	BE2_C	brain:	n/a
49	chr15:31619949-31619999	HCPEpiC	choroid plexus:	n/a
50	chr15:31619399-31619449	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr15:31620067..31620789-chr15:31727225..31727966,3	MCF-7	breast:
2	chr15:31618754..31620549-chr15:31631588..31633647,2	K562	blood:
3	chr15:31618253..31621608-chr15:31655043..31658553,3	K562	blood:
4	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
5	chr15:31619043..31619728-chr17:62340009..62340776,2	Hela-S3	cervix:
6	chr15:31619156..31619701-chr5:40678819..40679598,2	Hela-S3	cervix:
7	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:
8	chr15:31619962..31620883-chr7:26239738..26240418,2	Hela-S3	cervix:
9	chr15:31608249..31610861-chr15:31620873..31623099,2	K562	blood:
10	chr15:31618649..31619470-chr7:86781497..86782119,2	Hela-S3	cervix:
11	chr15:31507690..31508326-chr15:31619594..31620115,2	MCF-7	breast:
12	chr15:31618617..31619175-chr17:76920900..76921481,2	Hela-S3	cervix:
13	chr15:31618838..31621702-chr15:31631313..31632972,2	MCF-7	breast:
14	chr15:31618837..31619492-chr17:8286314..8286908,2	Hela-S3	cervix:
15	chr15:31619684..31620471-chr16:30709793..30710319,2	Hela-S3	cervix:
16	chr15:31507074..31509248-chr15:31619187..31621529,2	MCF-7	breast:
17	chr15:31618168..31621382-chr15:31631982..31634646,4	MCF-7	breast:
18	chr15:31608249..31610861-chr15:31620080..31623099,3	K562	blood:
19	chr15:31618149..31620497-chr15:31657004..31658970,2	MCF-7	breast:
20	chr15:31618609..31619470-chr7:143077778..143078496,2	Hela-S3	cervix:
21	chr15:31618668..31619569-chr2:9770552..9771168,2	HCT-116	colon:

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
ENSG00000169926	chromatin interactions
ENSG00000134308	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000161970	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000259448	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000159840	chromatin interactions
ENSG00000035862	chromatin interactions
ENSG00000136478	chromatin interactions
ENSG00000263809	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2099545	chr15:31618939-31618940	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs574857939	chr15:31619020-31619021	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs543923478	chr15:31619165-31619166	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs563790750	chr15:31619289-31619290	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs532605603	chr15:31619350-31619351	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs546367534	chr15:31619401-31619402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs77996726	chr15:31619442-31619443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs559841055	chr15:31619592-31619593	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs11537749	chr15:31619607-31619608	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540741003	chr15:31619709-31619710	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs548866527	chr15:31619778-31619779	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs568489216	chr15:31619787-31619788	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs113926078	chr15:31619792-31619793	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs375101197	chr15:31619826-31619827	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs551105493	chr15:31619896-31619897	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs368768973	chr15:31619922-31619923	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs372336832	chr15:31619928-31619929	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs75182225	chr15:31619929-31619930	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs201002318	chr15:31619934-31619935	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs202115203	chr15:31619949-31619950	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs373148635	chr15:31619964-31619965	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs553114301	chr15:31619967-31619968	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs374859326	chr15:31619970-31619971	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs566685429	chr15:31620005-31620006	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs200426773	chr15:31620016-31620017	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs555212554	chr15:31620026-31620027	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs574895026	chr15:31620039-31620040	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs373058664	chr15:31620044-31620045	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112814079	chr15:31620112-31620113	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs557608609	chr15:31620141-31620142	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577664034	chr15:31620162-31620163	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs546115747	chr15:31620229-31620230	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs559912592	chr15:31620287-31620288	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs140235811	chr15:31620349-31620350	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542544125	chr15:31620355-31620356	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562329528	chr15:31620367-31620368	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs530969436	chr15:31620376-31620377	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550993068	chr15:31620415-31620416	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs570886854	chr15:31620454-31620455	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs369348290	chr15:31620510-31620511	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs77811277	chr15:31620512-31620513	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544522336	chr15:31620537-31620538	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs72722811	chr15:31620544-31620545	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548190340	chr15:31620556-31620557	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546741266	chr15:31620561-31620562	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs566678160	chr15:31620579-31620580	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191346738	chr15:31620607-31620608	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs555251326	chr15:31620626-31620627	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs182764369	chr15:31620627-31620628	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs537494688	chr15:31620700-31620701	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31617200-31621200	Active TSS	Placenta Amnion	Placenta Amnion
2	chr15:31617200-31621800	Active TSS	Left Ventricle	heart
3	chr15:31617400-31621000	Active TSS	NH-A	brain
4	chr15:31617400-31621800	Active TSS	GM12878-XiMat	blood
5	chr15:31617400-31622000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:31617400-31622000	Active TSS	Esophagus	oesophagus
7	chr15:31617400-31622400	Active TSS	Gastric	stomach
8	chr15:31617600-31620600	Active TSS	Psoas Muscle	Psoas
9	chr15:31617600-31620800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr15:31617600-31621000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:31617600-31621000	Active TSS	Thymus	Thymus
12	chr15:31617600-31621000	Active TSS	A549	lung
13	chr15:31617600-31621200	Active TSS	Aorta	Aorta
14	chr15:31617600-31621200	Active TSS	Right Ventricle	heart
15	chr15:31617600-31621400	Active TSS	Spleen	Spleen
16	chr15:31617600-31621600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:31617600-31621600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr15:31617600-31621800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:31617600-31621800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:31617600-31621800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:31617600-31621800	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr15:31617600-31621800	Active TSS	Lung	lung
23	chr15:31617600-31621800	Active TSS	Small Intestine	intestine
24	chr15:31617600-31621800	Active TSS	NHLF	lung
25	chr15:31617600-31622000	Active TSS	Brain Angular Gyrus	brain
26	chr15:31617600-31622000	Active TSS	Fetal Intestine Small	intestine
27	chr15:31617600-31622200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:31617600-31622200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr15:31617600-31622200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr15:31617800-31619200	Active TSS	Stomach Mucosa	stomach
31	chr15:31617800-31619400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:31617800-31619400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:31617800-31620400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:31617800-31620600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr15:31617800-31620600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:31617800-31620800	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr15:31617800-31620800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:31617800-31620800	Active TSS	Liver	Liver
39	chr15:31617800-31620800	Active TSS	Brain Germinal Matrix	brain
40	chr15:31617800-31620800	Active TSS	Fetal Lung	lung
41	chr15:31617800-31620800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr15:31617800-31621000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:31617800-31621000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:31617800-31621000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:31617800-31621000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:31617800-31621000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:31617800-31621000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:31617800-31621000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr15:31617800-31621000	Active TSS	Brain Anterior Caudate	brain
50	chr15:31617800-31621000	Active TSS	Brain Hippocampus Middle	brain

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