Variant report

Variant	nsv569314
Chromosome Location	chr15:45420718-45450323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:455)
CpG islands
(count:2139)
Chromatin interactive
region (count:23)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45423781-45424095	HepG2	liver:	n/a	n/a
2	ATF1	chr15:45449331-45449609	K562	blood:	n/a	n/a
3	ATF1	chr15:45450234-45450549	K562	blood:	n/a	n/a
4	ATF2	chr15:45450203-45450634	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr15:45421066-45421370	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr15:45424869-45424892	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr15:45427134-45427453	GM12878	blood:	n/a	n/a
8	BHLHE40	chr15:45431833-45431914	K562	blood:	n/a	n/a
9	CEBPB	chr15:45449282-45449594	IMR90	lung:	n/a	n/a
10	CEBPB	chr15:45438712-45438912	HepG2	liver:	n/a	n/a
11	CEBPB	chr15:45450224-45450536	IMR90	lung:	n/a	n/a
12	CEBPB	chr15:45438606-45438936	IMR90	lung:	n/a	n/a
13	CEBPB	chr15:45438733-45438811	A549	lung:	n/a	n/a
14	CHD2	chr15:45449115-45449298	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr15:45421049-45422126	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr15:45426981-45427713	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:45428740-45428890	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr15:45427640-45427790	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr15:45450140-45450290	AG10803	skin:	n/a	n/a
20	CTCF	chr15:45428740-45428890	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr15:45428720-45428870	GM12870	blood:	n/a	n/a
22	CTCF	chr15:45427660-45427810	GM12869	blood:	n/a	n/a
23	CTCF	chr15:45428469-45428561	GM12892	blood:	n/a	n/a
24	CTCF	chr15:45427952-45427988	GM12891	blood:	n/a	n/a
25	CTCF	chr15:45428740-45428890	HAc	cerebellar:	n/a	n/a
26	CTCF	chr15:45428720-45428870	GM12866	blood:	n/a	n/a
27	CTCF	chr15:45427654-45427761	GM12878	blood:	n/a	n/a
28	CTCF	chr15:45428705-45428930	K562	blood:	n/a	n/a
29	CTCF	chr15:45427640-45427790	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr15:45427620-45427770	BJ	skin:	n/a	n/a
31	CTCF	chr15:45428782-45428844	GM13976	blood:	n/a	n/a
32	CTCF	chr15:45428760-45428910	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr15:45428780-45428930	GM12872	blood:	n/a	n/a
34	CTCF	chr15:45428740-45428890	GM12872	blood:	n/a	n/a
35	CTCF	chr15:45428780-45428930	AG09319	gingival:	n/a	n/a
36	CTCF	chr15:45427640-45427790	AG09319	gingival:	n/a	n/a
37	CTCF	chr15:45427609-45427783	GM19240	blood:	n/a	n/a
38	CTCF	chr15:45428720-45428870	K562	blood:	n/a	n/a
39	CTCF	chr15:45428760-45428910	GM12864	blood:	n/a	n/a
40	CTCF	chr15:45428700-45428850	GM12869	blood:	n/a	n/a
41	CTCF	chr15:45427640-45427790	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr15:45427670-45427736	K562	blood:	n/a	n/a
43	CTCF	chr15:45428720-45428870	GM12871	blood:	n/a	n/a
44	CTCF	chr15:45428731-45428899	GM19240	blood:	n/a	n/a
45	CTCF	chr15:45428752-45428893	IMR90	lung:	n/a	n/a
46	CTCF	chr15:45428800-45428950	AG09309	skin:	n/a	n/a
47	CTCF	chr15:45428706-45428923	GM19239	blood:	n/a	n/a
48	CTCF	chr15:45450220-45450370	AG09319	gingival:	n/a	n/a
49	CTCF	chr15:45428676-45428965	K562	blood:	n/a	n/a
50	CTCF	chr15:45427640-45427790	AG04449	skin:	n/a	n/a

(count:2139 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45444219-45444269	HPAEpiC	pulmonary alveolar:	n/a
2	chr15:45444606-45444656	NHBE	bronchial:	n/a
3	chr15:45421578-45421628	GM19239	blood:	n/a
4	chr15:45422083-45422133	NHDF-neo	bronchial:	n/a
5	chr15:45444219-45444269	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:45444606-45444656	NHBE	bronchial:	n/a
7	chr15:45421578-45421628	GM19239	blood:	n/a
8	chr15:45422083-45422133	NHDF-neo	bronchial:	n/a
9	chr15:45427734-45427784	H1-hESC	embryonic stem cell:	embryo
10	chr15:45421998-45422048	HRE	kidney:	n/a
11	chr15:45444627-45444677	HCT-116	colon:	n/a
12	chr15:45444627-45444677	HRCEpiC	kidney:	n/a
13	chr15:45421951-45422001	Hela-S3	cervix:	n/a
14	chr15:45422054-45422104	HNPCEpiC	eye:	n/a
15	chr15:45444219-45444269	RPTEC	kidney:	n/a
16	chr15:45421749-45421799	AG04450	lung:	fetal
17	chr15:45440540-45440590	ovcar-3	ovarian:	n/a
18	chr15:45422325-45422375	GM12891	blood:	n/a
19	chr15:45422004-45422054	T-47D	breast:	n/a
20	chr15:45422393-45422443	K562	blood:	n/a
21	chr15:45422095-45422145	LNCaP	prostate:	n/a
22	chr15:45422062-45422112	HEEpiC	esophagus:	n/a
23	chr15:45422083-45422133	HAEpiC	amniotic membrane:	n/a
24	chr15:45427297-45427347	AG09319	gingival:	n/a
25	chr15:45421749-45421799	T-47D	breast:	n/a
26	chr15:45426386-45426436	HRCEpiC	kidney:	n/a
27	chr15:45422325-45422375	PFSK-1	brain:	n/a
28	chr15:45427297-45427347	GM12892	blood:	n/a
29	chr15:45421749-45421799	GM12891	blood:	n/a
30	chr15:45427297-45427347	AG04449	skin:	fetal
31	chr15:45422054-45422104	HAEpiC	amniotic membrane:	n/a
32	chr15:45449437-45449487	SAEC	small airway:	n/a
33	chr15:45448006-45448056	SAEC	small airway:	n/a
34	chr15:45431690-45431740	Hela-S3	cervix:	n/a
35	chr15:45422553-45422603	HUVEC	blood vessel:	n/a
36	chr15:45422004-45422054	NT2-D1	testis:	n/a
37	chr15:45421749-45421799	SK-N-MC	brain:	n/a
38	chr15:45422393-45422443	NB4	blood:	n/a
39	chr15:45444508-45444558	AG09309	skin:	n/a
40	chr15:45434285-45434335	NT2-D1	testis:	n/a
41	chr15:45431690-45431740	SK-N-SH	brain:	n/a
42	chr15:45434285-45434335	GM12891	blood:	n/a
43	chr15:45422083-45422133	IMR90	lung:	fetal
44	chr15:45422553-45422603	ProgFib	skin:	n/a
45	chr15:45422325-45422375	NT2-D1	testis:	n/a
46	chr15:45444627-45444677	HUVEC	blood vessel:	n/a
47	chr15:45431690-45431740	PANC-1	pancreas:	n/a
48	chr15:45427577-45427627	PANC-1	pancreas:	n/a
49	chr15:45444704-45444754	Jurkat	blood:	n/a
50	chr15:45444627-45444677	HepG2	liver:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45421458..45423929-chr15:45425616..45427785,3	K562	blood:
2	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
3	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
4	chr15:45412250..45414388-chr15:45434468..45436699,2	K562	blood:
5	chr15:45431968..45434188-chr15:45440208..45442818,2	K562	blood:
6	chr15:45439255..45441307-chr15:45447015..45449775,2	K562	blood:
7	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
8	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
9	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
10	chr15:45443966..45446125-chr15:45449579..45451751,2	K562	blood:
11	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
12	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
13	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:
14	chr15:45434203..45436552-chr15:45443104..45444699,2	K562	blood:
15	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
16	chr15:45439215..45441093-chr15:45448771..45450612,2	MCF-7	breast:
17	chr15:45447883..45450231-chr15:45460797..45462764,2	K562	blood:
18	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
19	chr15:45448307..45450001-chr15:45458633..45460393,2	MCF-7	breast:
20	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:
21	chr15:45449609..45453236-chr15:45457803..45460650,4	K562	blood:
22	chr15:45428900..45431530-chr15:45437116..45439567,2	K562	blood:
23	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUOX2-3	chr15:45421371-45421813	NONHSAT042218
2	lnc-DUOX2-3	chr15:45421353-45421813	NONHSAT042217
3	lnc-DUOX2-3	chr15:45422021-45422078	NONHSAT042217
4	lnc-DUOX2-3	chr15:45422050-45422075	NONHSAT042218
5	lnc-SHF-2	chr15:45444862-45445415	ENSG00000259539.1

No data

Variant related genes	Relation type
DUOX1	TF binding region
DUOXA1	TF binding region
DUOX1	CpG island
DUOXA1	CpG island
ENSG00000140254	chromatin interactions
ENSG00000171763	chromatin interactions
ENSG00000259539	chromatin interactions
ENSG00000137857	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000259519	chromatin interactions

Extended variants
information (count: 1289 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1365242	chr15:45420718-45420719	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs185077654	chr15:45420750-45420751	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10438308	chr15:45420758-45420759	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546649234	chr15:45420779-45420780	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558863715	chr15:45420784-45420785	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566159752	chr15:45420786-45420787	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577162271	chr15:45420801-45420802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145137614	chr15:45420815-45420816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs7175817	chr15:45420930-45420931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571967443	chr15:45420957-45420958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs62025125	chr15:45420964-45420965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557401967	chr15:45420994-45420995	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs573929851	chr15:45421005-45421006	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375026055	chr15:45421068-45421069	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs536367601	chr15:45421110-45421111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551661237	chr15:45421117-45421118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs7177539	chr15:45421168-45421169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77168791	chr15:45421176-45421177	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35058711	chr15:45421180-45421181	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs564880263	chr15:45421222-45421223	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs189587952	chr15:45421235-45421236	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373299715	chr15:45421291-45421292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs541990018	chr15:45421372-45421373	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs563745270	chr15:45421484-45421485	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs560746113	chr15:45421490-45421491	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs529659630	chr15:45421620-45421621	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs3784576	chr15:45421662-45421663	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528743003	chr15:45421684-45421685	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs369973098	chr15:45421707-45421708	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs1648281	chr15:45421758-45421759	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs571830789	chr15:45421781-45421782	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs537744313	chr15:45421865-45421866	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs9672158	chr15:45421878-45421879	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs551227381	chr15:45421902-45421903	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567566159	chr15:45421905-45421906	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541420588	chr15:45421929-45421930	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536633908	chr15:45421941-45421942	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs553219626	chr15:45421972-45421973	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573281387	chr15:45422038-45422039	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs566784562	chr15:45422043-45422044	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs558338509	chr15:45422062-45422063	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs575046296	chr15:45422067-45422068	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs377331382	chr15:45422081-45422082	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs77225266	chr15:45422135-45422136	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs554834710	chr15:45422150-45422151	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs376450630	chr15:45422230-45422231	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs540222696	chr15:45422343-45422344	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560031015	chr15:45422356-45422357	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs180716092	chr15:45422366-45422367	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs545868724	chr15:45422397-45422398	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45410200-45421000	Weak transcription	Lung	lung
2	chr15:45410400-45421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:45414800-45420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:45415200-45420800	Weak transcription	NHEK	skin
5	chr15:45420000-45421200	Weak transcription	Gastric	stomach
6	chr15:45420400-45420800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:45420400-45420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:45420600-45420800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr15:45420600-45422800	Active TSS	Esophagus	oesophagus
10	chr15:45420800-45421000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:45420800-45421000	Enhancers	NHEK	skin
12	chr15:45420800-45421200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr15:45420800-45421200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:45420800-45421400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:45420800-45422600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:45420800-45423000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr15:45421000-45421200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:45421000-45421200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:45421000-45421200	Bivalent Enhancer	Fetal Thymus	thymus
20	chr15:45421000-45421200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr15:45421000-45421200	Flanking Active TSS	NHEK	skin
22	chr15:45421000-45421400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr15:45421000-45421400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr15:45421000-45421400	Bivalent Enhancer	Fetal Lung	lung
25	chr15:45421000-45421600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:45421000-45421600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:45421000-45421600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
28	chr15:45421000-45421800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr15:45421000-45421800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:45421000-45421800	Bivalent Enhancer	Fetal Heart	heart
31	chr15:45421000-45422000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:45421000-45422000	Active TSS	Brain Substantia Nigra	brain
33	chr15:45421000-45422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:45421000-45422200	Flanking Active TSS	Lung	lung
35	chr15:45421000-45422400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:45421000-45422400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr15:45421000-45422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr15:45421000-45422600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr15:45421000-45422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr15:45421000-45422600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr15:45421000-45422600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr15:45421000-45422600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr15:45421200-45421400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:45421200-45421400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:45421200-45421400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr15:45421200-45421400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr15:45421200-45421400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:45421200-45421400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:45421200-45421400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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