Variant report

Variant	esv3398970
Chromosome Location	chr15:76629522-76632070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:612)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:76628649-76629872	K562	blood:	n/a	chr15:76629073-76629087
2	BACH1	chr15:76629934-76630251	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr15:76629704-76630730	HepG2	liver:	n/a	chr15:76630343-76630359 chr15:76630510-76630526 chr15:76630344-76630360
4	BHLHE40	chr15:76629583-76630768	K562	blood:	n/a	chr15:76630343-76630359 chr15:76630510-76630526 chr15:76630344-76630360
5	BRCA1	chr15:76630064-76630181	HepG2	liver:	n/a	n/a
6	BRCA1	chr15:76628187-76629527	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr15:76630465-76631197	K562	blood:	n/a	n/a
8	CBX3	chr15:76629531-76630339	K562	blood:	n/a	n/a
9	CCNT2	chr15:76628112-76631050	K562	blood:	n/a	chr15:76628209-76628218 chr15:76629304-76629313 chr15:76630348-76630357 chr15:76629900-76629909
10	CEBPB	chr15:76628405-76629809	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr15:76628612-76629678	IMR90	lung:	n/a	n/a
12	CEBPB	chr15:76628326-76629665	A549	lung:	n/a	n/a
13	CEBPB	chr15:76628589-76629675	A549	lung:	n/a	n/a
14	CEBPB	chr15:76628604-76629818	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:76628415-76629797	K562	blood:	n/a	n/a
16	CHD2	chr15:76630162-76630359	HepG2	liver:	n/a	n/a
17	CHD2	chr15:76630098-76630295	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr15:76631393-76631590	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr15:76630185-76630345	K562	blood:	n/a	n/a
20	CREB1	chr15:76628665-76629768	K562	blood:	n/a	chr15:76629074-76629087
21	CREB1	chr15:76628493-76630824	HepG2	liver:	n/a	chr15:76629074-76629087
22	CTBP2	chr15:76629652-76630944	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr15:76631455-76635500	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:76630380-76630530	SK-N-SH_RA	brain:	n/a	chr15:76630485-76630494 chr15:76630479-76630497
25	CTCF	chr15:76629560-76629710	SAEC	small airway:	n/a	n/a
26	CTCF	chr15:76630140-76630290	K562	blood:	n/a	n/a
27	CTCF	chr15:76630148-76630264	GM19238	blood:	n/a	n/a
28	CTCF	chr15:76630116-76630290	GM12878	blood:	n/a	n/a
29	CTCF	chr15:76630098-76630333	K562	blood:	n/a	n/a
30	CTCF	chr15:76630136-76630238	K562	blood:	n/a	n/a
31	CTCF	chr15:76630105-76630296	GM19239	blood:	n/a	n/a
32	CTCF	chr15:76630653-76630833	GM19239	blood:	n/a	n/a
33	CTCF	chr15:76630160-76630310	Caco-2	colon:	n/a	n/a
34	CTCF	chr15:76630360-76630510	BJ	skin:	n/a	chr15:76630485-76630494 chr15:76630479-76630497
35	CTCF	chr15:76630140-76630290	GM12875	blood:	n/a	n/a
36	CTCF	chr15:76630158-76630225	GM10266	blood:	n/a	n/a
37	CTCF	chr15:76630149-76630165	GM10248	blood:	n/a	n/a
38	CTCF	chr15:76630440-76630590	HEK293	kidney:	n/a	chr15:76630485-76630494 chr15:76630479-76630497
39	CTCF	chr15:76630100-76630250	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr15:76630129-76630249	GM12892	blood:	n/a	n/a
41	CTCF	chr15:76630440-76630590	Caco-2	colon:	n/a	chr15:76630485-76630494 chr15:76630479-76630497
42	CTCF	chr15:76630460-76630610	HepG2	liver:	n/a	chr15:76630485-76630494 chr15:76630479-76630497
43	CTCF	chr15:76630680-76630830	GM12866	blood:	n/a	n/a
44	CTCF	chr15:76630116-76630263	GM19240	blood:	n/a	n/a
45	CTCF	chr15:76630160-76630310	GM12872	blood:	n/a	n/a
46	CTCF	chr15:76630480-76630630	HUVEC	blood vessel:	n/a	chr15:76630485-76630494
47	CTCF	chr15:76630220-76630370	GM12871	blood:	n/a	n/a
48	CTCF	chr15:76629700-76629850	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr15:76630720-76630752	GM12891	blood:	n/a	n/a
50	CTCF	chr15:76630060-76630210	HepG2	liver:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76631894-76631944	K562	blood:	n/a
2	chr15:76630962-76631012	NB4	blood:	n/a
3	chr15:76631894-76631944	K562	blood:	n/a
4	chr15:76630962-76631012	NB4	blood:	n/a
5	chr15:76630209-76630259	Jurkat	blood:	n/a
6	chr15:76630095-76630145	ovcar-3	ovarian:	n/a
7	chr15:76630095-76630145	BJ	skin:	n/a
8	chr15:76630260-76630310	K562	blood:	n/a
9	chr15:76630962-76631012	HIPEpiC	eye:	n/a
10	chr15:76629771-76629821	HL-60	blood:	n/a
11	chr15:76630260-76630310	CMK	blood:	n/a
12	chr15:76630660-76630710	BE2_C	brain:	n/a
13	chr15:76630095-76630145	HCF	heart:	n/a
14	chr15:76630209-76630259	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:76630260-76630310	HepG2	liver:	n/a
16	chr15:76630209-76630259	GM12878	blood:	n/a
17	chr15:76630209-76630259	HRCEpiC	kidney:	n/a
18	chr15:76630660-76630710	Hela-S3	cervix:	n/a
19	chr15:76630260-76630310	HRPEpiC	eye:	n/a
20	chr15:76631569-76631619	LNCaP	prostate:	n/a
21	chr15:76630514-76630564	ECC-1	luminal epithelium:	n/a
22	chr15:76630209-76630259	CMK	blood:	n/a
23	chr15:76631894-76631944	HPAEpiC	pulmonary alveolar:	n/a
24	chr15:76630962-76631012	IMR90	lung:	fetal
25	chr15:76631894-76631944	RPTEC	kidney:	n/a
26	chr15:76631569-76631619	A549	lung:	n/a
27	chr15:76631569-76631619	NB4	blood:	n/a
28	chr15:76629771-76629821	HNPCEpiC	eye:	n/a
29	chr15:76631569-76631619	Hela-S3	cervix:	n/a
30	chr15:76631894-76631944	BJ	skin:	n/a
31	chr15:76630514-76630564	AG09319	gingival:	n/a
32	chr15:76630660-76630710	MCF-7	breast:	n/a
33	chr15:76630095-76630145	PFSK-1	brain:	n/a
34	chr15:76630095-76630145	HUVEC	blood vessel:	n/a
35	chr15:76631894-76631944	ovcar-3	ovarian:	n/a
36	chr15:76631894-76631944	PrEC	prostate:	n/a
37	chr15:76630209-76630259	HIPEpiC	eye:	n/a
38	chr15:76630209-76630259	RPTEC	kidney:	n/a
39	chr15:76630514-76630564	IMR90	lung:	fetal
40	chr15:76629838-76629888	GM12891	blood:	n/a
41	chr15:76630514-76630564	HIPEpiC	eye:	n/a
42	chr15:76630095-76630145	NH-A	brain:	n/a
43	chr15:76630209-76630259	H1-hESC	embryonic stem cell:	embryo
44	chr15:76629771-76629821	IMR90	lung:	fetal
45	chr15:76629771-76629821	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:76630514-76630564	AoSMC	blood vessel:	n/a
47	chr15:76630660-76630710	GM12878	blood:	n/a
48	chr15:76631569-76631619	HAEpiC	amniotic membrane:	n/a
49	chr15:76630260-76630310	NH-A	brain:	n/a
50	chr15:76629838-76629888	NT2-D1	testis:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76574110..76576498-chr15:76629872..76632197,2	K562	blood:
2	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
3	chr15:76482689..76486583-chr15:76628039..76631365,3	K562	blood:
4	chr10:75541358..75542179-chr15:76629650..76630534,2	NB4	blood:
5	chr15:76630618..76633246-chr15:76671829..76673785,2	K562	blood:
6	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:
7	chr15:76628671..76632944-chr15:76633969..76642252,10	MCF-7	breast:
8	chr15:76627980..76632315-chr15:76633215..76636196,5	MCF-7	breast:
9	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
10	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
11	chr15:76630323..76632934-chr15:77355490..77357171,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270036	TF binding region
ISL2	TF binding region
ENSG00000270036	CpG island
ISL2	CpG island
ENSG00000172586	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000169758	chromatin interactions
ENSG00000270036	chromatin interactions
ENSG00000259514	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182052800	chr15:76629529-76629530	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs150863129	chr15:76629537-76629538	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs62028360	chr15:76629569-76629570	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs11439488	chr15:76629571-76629572	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs75167217	chr15:76629572-76629573	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs76664550	chr15:76629573-76629574	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs397762033	chr15:76629584-76629585	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs3866543	chr15:76629609-76629610	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs7183555	chr15:76629817-76629818	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186686781	chr15:76629855-76629856	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs56384448	chr15:76629917-76629918	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs369352319	chr15:76629935-76629936	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs560788766	chr15:76629994-76629995	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs527963412	chr15:76630017-76630018	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs543347723	chr15:76630018-76630019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs542290757	chr15:76630033-76630034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs138217367	chr15:76630055-76630056	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs115523289	chr15:76630063-76630064	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs116816079	chr15:76630087-76630088	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs559846780	chr15:76630104-76630105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs202060824	chr15:76630181-76630182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs376039978	chr15:76630208-76630209	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs151069345	chr15:76630255-76630256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs532193361	chr15:76630285-76630286	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs4636879	chr15:76630303-76630304	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565865862	chr15:76630451-76630452	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs536536504	chr15:76630452-76630453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs555523443	chr15:76630520-76630521	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs375989232	chr15:76630545-76630546	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs369968662	chr15:76630563-76630564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs375623734	chr15:76630587-76630588	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs567651060	chr15:76630667-76630668	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368899411	chr15:76630671-76630672	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs145221041	chr15:76630681-76630682	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs578123297	chr15:76630695-76630696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372925154	chr15:76630698-76630699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs147622507	chr15:76630699-76630700	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs201140408	chr15:76630707-76630708	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs62028361	chr15:76630717-76630718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146252815	chr15:76630743-76630744	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs543303969	chr15:76630774-76630775	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs561376415	chr15:76630786-76630787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs375968339	chr15:76630826-76630827	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs575998550	chr15:76630847-76630848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370935444	chr15:76630848-76630849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs147305711	chr15:76630870-76630871	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs564664027	chr15:76630911-76630912	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs532058580	chr15:76630921-76630922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547226645	chr15:76630937-76630938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs559493973	chr15:76630970-76630971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	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	chr15:76627400-76629600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:76627400-76635400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:76627600-76629600	Enhancers	Pancreas	Pancrea
4	chr15:76627600-76629600	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr15:76627600-76629600	Enhancers	Spleen	Spleen
6	chr15:76627600-76629800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:76627600-76630200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:76627600-76630400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
9	chr15:76627600-76630600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr15:76627600-76631000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:76627600-76631000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr15:76627600-76631200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:76627600-76632400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr15:76627600-76634400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr15:76627800-76629800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:76627800-76629800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr15:76627800-76630200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr15:76628000-76629600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr15:76628000-76629600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:76628000-76630600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:76628000-76631800	Bivalent/Poised TSS	Fetal Stomach	stomach
22	chr15:76628000-76632000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr15:76628200-76629600	Bivalent/Poised TSS	Thymus	Thymus
24	chr15:76628200-76629800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr15:76628200-76630200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:76628200-76630600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:76628200-76630800	Bivalent Enhancer	Liver	Liver
28	chr15:76628200-76631200	Active TSS	HSMM	muscle
29	chr15:76628400-76629600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr15:76628400-76629600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr15:76628400-76629800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:76628400-76630200	Active TSS	A549	lung
33	chr15:76628400-76630200	Bivalent/Poised TSS	HepG2	liver
34	chr15:76628400-76630400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:76628400-76630600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:76628600-76629600	Bivalent/Poised TSS	NHEK	skin
37	chr15:76628600-76629800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:76628600-76629800	Active TSS	K562	blood
39	chr15:76628600-76630000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:76628600-76630000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr15:76628600-76630600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:76628600-76630800	Active TSS	HSMMtube	muscle
43	chr15:76628800-76630400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:76628800-76630600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr15:76628800-76631200	Bivalent Enhancer	Fetal Heart	heart
46	chr15:76628800-76631200	Bivalent Enhancer	Fetal Lung	lung
47	chr15:76628800-76631200	Bivalent Enhancer	Lung	lung
48	chr15:76629000-76629600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:76629000-76630000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:76629000-76630400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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