Variant report

Variant	nsv569313
Chromosome Location	chr15:45413541-45457458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1137)
CpG islands
(count:2262)
Chromatin interactive
region (count:56)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

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	ARID3A	chr15:45418745-45419155	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:45414357-45414389	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:45418662-45419119	K562	blood:	n/a	n/a
5	ATF1	chr15:45449331-45449609	K562	blood:	n/a	n/a
6	ATF1	chr15:45450234-45450549	K562	blood:	n/a	n/a
7	ATF1	chr15:45455746-45455775	K562	blood:	n/a	n/a
8	ATF2	chr15:45450203-45450634	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr15:45455191-45455598	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr15:45455123-45455624	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr15:45421066-45421370	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr15:45424869-45424892	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr15:45455222-45455621	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr15:45413226-45413597	GM12878	blood:	n/a	n/a
15	BATF	chr15:45413200-45413678	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:45413347-45413584	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:45413229-45413657	GM12878	blood:	n/a	n/a
18	BCLAF1	chr15:45455247-45455602	GM12878	blood:	n/a	chr15:45455524-45455533 chr15:45455286-45455299 chr15:45455428-45455436
19	BHLHE40	chr15:45455280-45455636	K562	blood:	n/a	chr15:45455345-45455361
20	BHLHE40	chr15:45427134-45427453	GM12878	blood:	n/a	n/a
21	BHLHE40	chr15:45418905-45419058	K562	blood:	n/a	n/a
22	BHLHE40	chr15:45431833-45431914	K562	blood:	n/a	n/a
23	BHLHE40	chr15:45455035-45455664	HepG2	liver:	n/a	chr15:45455345-45455361
24	BRCA1	chr15:45455262-45455585	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr15:45455210-45455508	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr15:45419959-45419986	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr15:45455411-45455611	GM12878	blood:	n/a	n/a
28	CEBPB	chr15:45438733-45438811	A549	lung:	n/a	n/a
29	CEBPB	chr15:45417073-45417182	HepG2	liver:	n/a	chr15:45417142-45417153
30	CEBPB	chr15:45438606-45438936	IMR90	lung:	n/a	n/a
31	CEBPB	chr15:45456675-45456890	K562	blood:	n/a	chr15:45456722-45456733
32	CEBPB	chr15:45456680-45456892	IMR90	lung:	n/a	chr15:45456722-45456733
33	CEBPB	chr15:45414326-45414523	HepG2	liver:	n/a	n/a
34	CEBPB	chr15:45449282-45449594	IMR90	lung:	n/a	n/a
35	CEBPB	chr15:45450224-45450536	IMR90	lung:	n/a	n/a
36	CEBPB	chr15:45414226-45414584	IMR90	lung:	n/a	n/a
37	CEBPB	chr15:45456556-45456906	HepG2	liver:	n/a	chr15:45456722-45456733
38	CEBPB	chr15:45456673-45456871	Hela-S3	cervix:	n/a	chr15:45456722-45456733
39	CEBPB	chr15:45455280-45455547	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr15:45438712-45438912	HepG2	liver:	n/a	n/a
41	CEBPB	chr15:45455075-45455565	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr15:45456690-45456772	A549	lung:	n/a	chr15:45456722-45456733
43	CHD1	chr15:45454941-45455681	IMR90	lung:	n/a	n/a
44	CHD2	chr15:45455195-45455587	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr15:45449115-45449298	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr15:45455310-45455691	GM12878	blood:	n/a	n/a
47	CHD2	chr15:45418847-45418906	K562	blood:	n/a	n/a
48	CHD2	chr15:45455024-45455581	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr15:45455269-45455544	HepG2	liver:	n/a	n/a
50	CTBP2	chr15:45421049-45422126	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2262 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45422062-45422112	HCT-116	colon:	n/a
2	chr15:45422393-45422443	AoSMC	blood vessel:	n/a
3	chr15:45417414-45417464	GM06990	blood:	n/a
4	chr15:45444918-45444968	IMR90	lung:	fetal
5	chr15:45422553-45422603	IMR90	lung:	fetal
6	chr15:45422062-45422112	HCT-116	colon:	n/a
7	chr15:45422393-45422443	AoSMC	blood vessel:	n/a
8	chr15:45417414-45417464	GM06990	blood:	n/a
9	chr15:45444918-45444968	IMR90	lung:	fetal
10	chr15:45422553-45422603	IMR90	lung:	fetal
11	chr15:45427734-45427784	A549	lung:	n/a
12	chr15:45422553-45422603	CMK	blood:	n/a
13	chr15:45422371-45422421	U87	brain:	n/a
14	chr15:45444219-45444269	HCPEpiC	choroid plexus:	n/a
15	chr15:45421998-45422048	SKMC	muscle:	n/a
16	chr15:45423543-45423593	ovcar-3	ovarian:	n/a
17	chr15:45434285-45434335	PFSK-1	brain:	n/a
18	chr15:45444508-45444558	BE2_C	brain:	n/a
19	chr15:45444918-45444968	HEEpiC	esophagus:	n/a
20	chr15:45431690-45431740	HRCEpiC	kidney:	n/a
21	chr15:45427034-45427084	K562	blood:	n/a
22	chr15:45422553-45422603	HAEpiC	amniotic membrane:	n/a
23	chr15:45449437-45449487	SAEC	small airway:	n/a
24	chr15:45448006-45448056	HIPEpiC	eye:	n/a
25	chr15:45421068-45421118	GM12878	blood:	n/a
26	chr15:45421578-45421628	MCF-7	breast:	n/a
27	chr15:45456024-45456074	NT2-D1	testis:	n/a
28	chr15:45444606-45444656	RPTEC	kidney:	n/a
29	chr15:45427297-45427347	NH-A	brain:	n/a
30	chr15:45428812-45428862	NT2-D1	testis:	n/a
31	chr15:45421068-45421118	GM06990	blood:	n/a
32	chr15:45444704-45444754	GM12892	blood:	n/a
33	chr15:45444219-45444269	A549	lung:	n/a
34	chr15:45434285-45434335	HEEpiC	esophagus:	n/a
35	chr15:45427734-45427784	Hepatocyte	liver:	n/a
36	chr15:45421998-45422048	NHDF-neo	bronchial:	n/a
37	chr15:45444606-45444656	GM12892	blood:	n/a
38	chr15:45421068-45421118	HCT-116	colon:	n/a
39	chr15:45422095-45422145	HCF	heart:	n/a
40	chr15:45421749-45421799	HEK293	kidney:	embryo
41	chr15:45421612-45421662	GM12892	blood:	n/a
42	chr15:45427034-45427084	AG09309	skin:	n/a
43	chr15:45426386-45426436	SK-N-MC	brain:	n/a
44	chr15:45421998-45422048	HCM	heart:	n/a
45	chr15:45422004-45422054	NHBE	bronchial:	n/a
46	chr15:45426386-45426436	AG09309	skin:	n/a
47	chr15:45422325-45422375	HCM	heart:	n/a
48	chr15:45448006-45448056	MCF-7	breast:	n/a
49	chr15:45444219-45444269	HRPEpiC	eye:	n/a
50	chr15:45421860-45421910	HRCEpiC	kidney:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:45455238..45457126-chr15:45491026..45493159,2	MCF-7	breast:
2	chr15:45455320..45455877-chr15:45560433..45560990,3	MCF-7	breast:
3	chr15:45439255..45441307-chr15:45447015..45449775,2	K562	blood:
4	chr15:45456638..45458886-chr15:45696035..45698478,2	K562	blood:
5	chr15:45447883..45450231-chr15:45460797..45462764,2	K562	blood:
6	chr15:45412250..45414388-chr15:45434468..45436699,2	K562	blood:
7	chr15:45412250..45414388-chr15:45434468..45436699,2	K562	blood:
8	chr15:45457159..45458711-chr15:45469879..45471937,2	MCF-7	breast:
9	chr15:45431968..45434188-chr15:45440208..45442818,2	K562	blood:
10	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
11	chr15:45428900..45431530-chr15:45437116..45439567,2	K562	blood:
12	chr15:45454342..45456403-chr15:45741288..45744175,2	MCF-7	breast:
13	chr15:45417539..45419456-chr15:45453596..45456552,2	K562	blood:
14	chr15:45453204..45457090-chr15:45457382..45460922,8	K562	blood:
15	chr15:45457064..45458836-chr15:45462821..45464924,2	MCF-7	breast:
16	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
17	chr15:45455299..45455941-chr15:45749596..45750400,4	K562	blood:
18	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
19	chr15:45434203..45436552-chr15:45443104..45444699,2	K562	blood:
20	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:
21	chr15:45448307..45450001-chr15:45458633..45460393,2	MCF-7	breast:
22	chr15:45456315..45459130-chr15:45878271..45881206,2	K562	blood:
23	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:
24	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
25	chr15:45418525..45419261-chr15:45568782..45569294,2	K562	blood:
26	chr15:45453899..45457914-chr15:45495194..45498173,3	K562	blood:
27	chr15:45444506..45446626-chr15:45455721..45457375,2	K562	blood:
28	chr15:45452614..45456559-chr15:45457211..45461369,7	MCF-7	breast:
29	chr15:45411733..45414237-chr15:45457948..45460622,2	MCF-7	breast:
30	chr15:45454280..45456253-chr15:45491439..45493847,2	K562	blood:
31	chr15:45449609..45453236-chr15:45457803..45460650,4	K562	blood:
32	chr15:45435866..45441707-chr15:45442117..45446619,7	K562	blood:
33	chr15:45443966..45446125-chr15:45449579..45451751,2	K562	blood:
34	chr15:45394002..45396843-chr15:45411789..45413686,2	K562	blood:
35	chr15:45455358..45455932-chr15:45497094..45497614,2	K562	blood:
36	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
37	chr15:45421458..45423929-chr15:45425616..45427785,3	K562	blood:
38	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
39	chr15:45410580..45412317-chr15:45415759..45418660,2	K562	blood:
40	chr15:45452958..45457175-chr15:45457544..45460484,6	MCF-7	breast:
41	chr15:45444538..45447388-chr15:45455721..45457816,3	K562	blood:
42	chr15:45439215..45441093-chr15:45448771..45450612,2	MCF-7	breast:
43	chr15:45413253..45416460-chr15:45420165..45423361,4	K562	blood:
44	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
45	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
46	chr15:45418967..45421770-chr15:45423953..45425588,2	K562	blood:
47	chr15:45419682..45422492-chr15:45439633..45442095,2	K562	blood:
48	chr15:45410032..45410581-chr15:45418687..45419353,3	MCF-7	breast:
49	chr15:45449920..45453086-chr15:45456416..45459415,4	K562	blood:
50	chr15:45454753..45457923-chr15:45490933..45493735,3	K562	blood:

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

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

No data

Variant related genes	Relation type
DUOX1	TF binding region
DUOXA1	TF binding region
DUOX1	CpG island
DUOXA1	CpG island
ENSG00000140254	chromatin interactions
ENSG00000140279	chromatin interactions
ENSG00000259354	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000138606	chromatin interactions
ENSG00000137857	chromatin interactions
ENSG00000259519	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000260035	chromatin interactions
ENSG00000104164	chromatin interactions
ENSG00000259932	chromatin interactions
ENSG00000259539	chromatin interactions
ENSG00000171766	chromatin interactions
ENSG00000171763	chromatin interactions

Extended variants
information (count: 1818 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1818 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17594910	chr15:45413541-45413542	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs188916849	chr15:45413571-45413572	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs191878225	chr15:45413572-45413573	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs558805327	chr15:45413581-45413582	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs529671553	chr15:45413582-45413583	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs546277047	chr15:45413593-45413594	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs566603106	chr15:45413646-45413647	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs175088	chr15:45413672-45413673	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142156354	chr15:45413699-45413700	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs184357421	chr15:45413702-45413703	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562267365	chr15:45413718-45413719	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534792847	chr15:45413727-45413728	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs537607470	chr15:45413735-45413736	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551330596	chr15:45413736-45413737	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs373232115	chr15:45413789-45413790	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs147703193	chr15:45413804-45413805	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs562209639	chr15:45413805-45413806	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs536690597	chr15:45413943-45413944	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs553081043	chr15:45413955-45413956	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573148529	chr15:45413971-45413972	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572532991	chr15:45414018-45414019	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs538757955	chr15:45414066-45414067	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs60043437	chr15:45414141-45414142	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188410098	chr15:45414189-45414190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs1898298	chr15:45414247-45414248	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142420553	chr15:45414253-45414254	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556970246	chr15:45414291-45414292	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529346718	chr15:45414305-45414306	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540481580	chr15:45414330-45414331	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181475239	chr15:45414346-45414347	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs377418630	chr15:45414347-45414348	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370190530	chr15:45414349-45414350	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375534676	chr15:45414355-45414356	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368536391	chr15:45414368-45414369	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76028914	chr15:45414374-45414375	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200382413	chr15:45414395-45414396	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145883946	chr15:45414414-45414415	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs374219066	chr15:45414421-45414422	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs117062041	chr15:45414422-45414423	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12903683	chr15:45414441-45414442	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201745069	chr15:45414447-45414448	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372522310	chr15:45414469-45414470	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371675007	chr15:45414486-45414487	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1863469	chr15:45414504-45414505	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184222718	chr15:45414511-45414512	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566771536	chr15:45414524-45414525	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538985628	chr15:45414604-45414605	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558815162	chr15:45414605-45414606	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575334264	chr15:45414619-45414620	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537692332	chr15:45414637-45414638	Enhancers Weak transcription	Chromatin interactive region	2 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:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45410200-45418400	Weak transcription	Gastric	stomach
2	chr15:45410200-45421000	Weak transcription	Lung	lung
3	chr15:45410400-45413600	Weak transcription	HUVEC	blood vessel
4	chr15:45410400-45413600	Weak transcription	Osteobl	bone
5	chr15:45410400-45414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:45410400-45414000	Weak transcription	HMEC	breast
7	chr15:45410400-45421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:45410600-45413600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:45411000-45414000	Weak transcription	A549	lung
10	chr15:45412200-45413600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:45412200-45414200	Strong transcription	Esophagus	oesophagus
12	chr15:45413000-45414000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:45413200-45414000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:45413200-45415000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr15:45413200-45415400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:45413400-45413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:45413400-45414400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:45413400-45414400	Enhancers	Stomach Mucosa	stomach
19	chr15:45413600-45414000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:45413600-45414000	Enhancers	Osteobl	bone
21	chr15:45413600-45415000	Enhancers	HUVEC	blood vessel
22	chr15:45413800-45414800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:45414000-45414200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr15:45414000-45414200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:45414000-45414400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:45414000-45414400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr15:45414000-45414400	Enhancers	NH-A	brain
28	chr15:45414000-45414400	Flanking Active TSS	Osteobl	bone
29	chr15:45414000-45414600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:45414000-45414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:45414000-45414600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:45414000-45414600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:45414000-45414600	Bivalent Enhancer	HepG2	liver
34	chr15:45414000-45414600	Enhancers	HMEC	breast
35	chr15:45414000-45414600	Enhancers	HSMM	muscle
36	chr15:45414000-45414600	Enhancers	NHLF	lung
37	chr15:45414000-45414800	Enhancers	NHDF-Ad	bronchial
38	chr15:45414000-45415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:45414000-45415200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:45414000-45415200	Enhancers	A549	lung
41	chr15:45414000-45415200	Enhancers	NHEK	skin
42	chr15:45414000-45416000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr15:45414200-45414400	Genic enhancers	Esophagus	oesophagus
44	chr15:45414200-45414400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr15:45414200-45414600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr15:45414200-45416000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:45414400-45415000	Weak transcription	Esophagus	oesophagus
48	chr15:45414400-45415000	Enhancers	Osteobl	bone
49	chr15:45414400-45415200	Weak transcription	Stomach Mucosa	stomach
50	chr15:45414400-45415400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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