Variant report

Variant	esv3369275
Chromosome Location	chr17:17583127-17586825
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	chr17:17586242-17586247	HepG2	liver:	n/a	n/a
2	ATF1	chr17:17586322-17586664	K562	blood:	n/a	n/a
3	ATF1	chr17:17585613-17585974	K562	blood:	n/a	chr17:17585767-17585781
4	ATF2	chr17:17585580-17585950	GM12878	blood:	n/a	chr17:17585767-17585781
5	ATF2	chr17:17586233-17586778	GM12878	blood:	n/a	chr17:17586493-17586504
6	ATF2	chr17:17585478-17586159	GM12878	blood:	n/a	chr17:17585767-17585781
7	ATF2	chr17:17586099-17586648	GM12878	blood:	n/a	chr17:17586493-17586504
8	ATF3	chr17:17586117-17586631	A549	lung:	n/a	chr17:17586492-17586505 chr17:17586495-17586502 chr17:17586491-17586506 chr17:17586493-17586504 chr17:17586491-17586504 chr17:17586495-17586505 chr17:17586280-17586289 chr17:17586492-17586502 chr17:17586494-17586505 chr17:17586493-17586506 chr17:17586495-17586505 chr17:17586492-17586505 chr17:17586383-17586392 chr17:17586492-17586503 chr17:17586492-17586502
9	ATF3	chr17:17585943-17586524	A549	lung:	n/a	chr17:17586492-17586505 chr17:17586495-17586502 chr17:17586491-17586506 chr17:17586493-17586504 chr17:17586491-17586504 chr17:17586495-17586505 chr17:17586280-17586289 chr17:17586492-17586502 chr17:17586494-17586505 chr17:17586493-17586506 chr17:17586495-17586505 chr17:17586492-17586505 chr17:17586383-17586392 chr17:17586492-17586503 chr17:17586492-17586502
10	BACH1	chr17:17586044-17586215	K562	blood:	n/a	n/a
11	BACH1	chr17:17584367-17586749	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr17:17585569-17585838	K562	blood:	n/a	n/a
13	BCL3	chr17:17586177-17587192	A549	lung:	n/a	chr17:17586382-17586391 chr17:17586299-17586312
14	BCLAF1	chr17:17584462-17584939	GM12878	blood:	n/a	chr17:17584561-17584574 chr17:17584549-17584562 chr17:17584565-17584578 chr17:17584603-17584616
15	BCLAF1	chr17:17585689-17586615	GM12878	blood:	n/a	chr17:17586382-17586391 chr17:17585985-17585994 chr17:17586299-17586312
16	BCLAF1	chr17:17585420-17586561	GM12878	blood:	n/a	chr17:17585498-17585507 chr17:17586382-17586391 chr17:17585985-17585994 chr17:17586299-17586312 chr17:17585660-17585673 chr17:17585487-17585500
17	BCLAF1	chr17:17584367-17584924	GM12878	blood:	n/a	chr17:17584561-17584574 chr17:17584549-17584562 chr17:17584565-17584578 chr17:17584603-17584616
18	BHLHE40	chr17:17584605-17584640	K562	blood:	n/a	n/a
19	BHLHE40	chr17:17585609-17586621	K562	blood:	n/a	chr17:17585659-17585675
20	BHLHE40	chr17:17585556-17586618	GM12878	blood:	n/a	chr17:17585659-17585675
21	BHLHE40	chr17:17584501-17584891	GM12878	blood:	n/a	n/a
22	BRCA1	chr17:17586336-17586840	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr17:17584490-17584648	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr17:17585707-17585930	GM12878	blood:	n/a	n/a
25	BRCA1	chr17:17585621-17585886	Hela-S3	cervix:	n/a	n/a
26	CCNT2	chr17:17584483-17586765	K562	blood:	n/a	chr17:17586230-17586239 chr17:17586383-17586392 chr17:17586224-17586233 chr17:17585462-17585471
27	CEBPB	chr17:17584262-17584642	Hela-S3	cervix:	n/a	chr17:17584391-17584404
28	CEBPB	chr17:17585644-17586646	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr17:17586250-17586625	IMR90	lung:	n/a	n/a
30	CEBPB	chr17:17586302-17586521	K562	blood:	n/a	n/a
31	CEBPB	chr17:17586330-17586461	HepG2	liver:	n/a	n/a
32	CEBPD	chr17:17584391-17584946	HepG2	liver:	n/a	n/a
33	CEBPD	chr17:17585016-17585277	HepG2	liver:	n/a	n/a
34	CHD1	chr17:17585235-17586600	GM12878	blood:	n/a	chr17:17585399-17585409
35	CHD1	chr17:17584053-17587549	IMR90	lung:	n/a	chr17:17585399-17585409 chr17:17584955-17584965
36	CHD2	chr17:17584500-17584847	GM12878	blood:	n/a	n/a
37	CHD2	chr17:17586081-17586388	HepG2	liver:	n/a	n/a
38	CHD2	chr17:17584608-17584765	HepG2	liver:	n/a	n/a
39	CHD2	chr17:17586029-17586437	K562	blood:	n/a	n/a
40	CHD2	chr17:17585261-17587022	GM12878	blood:	n/a	chr17:17585399-17585409
41	CHD2	chr17:17585583-17587021	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr17:17586703-17586990	K562	blood:	n/a	n/a
43	CHD2	chr17:17585191-17585380	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr17:17584442-17584821	Hela-S3	cervix:	n/a	n/a
45	CREB1	chr17:17585994-17586565	ECC-1	luminal epithelium:	n/a	chr17:17586492-17586505
46	CREB1	chr17:17585579-17585955	ECC-1	luminal epithelium:	n/a	chr17:17585768-17585781
47	CREB1	chr17:17585687-17586869	H1-hESC	embryonic stem cell:	n/a	chr17:17586492-17586505 chr17:17585768-17585781
48	CREB1	chr17:17585083-17586795	GM12878	blood:	n/a	chr17:17586492-17586505 chr17:17585768-17585781
49	CREB1	chr17:17585698-17586686	K562	blood:	n/a	chr17:17586492-17586505 chr17:17585768-17585781
50	CREB1	chr17:17584362-17586968	A549	lung:	n/a	chr17:17586492-17586505 chr17:17585768-17585781

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17583879-17583929	HCM	heart:	n/a
2	chr17:17584505-17584555	NB4	blood:	n/a
3	chr17:17586474-17586524	Hepatocyte	liver:	n/a
4	chr17:17586474-17586524	SK-N-SH_RA	brain:	n/a
5	chr17:17585298-17585348	MCF-7	breast:	n/a
6	chr17:17585338-17585388	HCT-116	colon:	n/a
7	chr17:17583879-17583929	HRCEpiC	kidney:	n/a
8	chr17:17586116-17586166	H1-hESC	embryonic stem cell:	embryo
9	chr17:17586474-17586524	Hela-S3	cervix:	n/a
10	chr17:17585338-17585388	NHDF-neo	bronchial:	n/a
11	chr17:17585298-17585348	Jurkat	blood:	n/a
12	chr17:17586116-17586166	HCPEpiC	choroid plexus:	n/a
13	chr17:17585774-17585824	AG09309	skin:	n/a
14	chr17:17584403-17584453	BE2_C	brain:	n/a
15	chr17:17585774-17585824	HAEpiC	amniotic membrane:	n/a
16	chr17:17586116-17586166	HIPEpiC	eye:	n/a
17	chr17:17584403-17584453	HRPEpiC	eye:	n/a
18	chr17:17584403-17584453	HRE	kidney:	n/a
19	chr17:17583879-17583929	K562	blood:	n/a
20	chr17:17585338-17585388	HCPEpiC	choroid plexus:	n/a
21	chr17:17586474-17586524	HL-60	blood:	n/a
22	chr17:17585774-17585824	SKMC	muscle:	n/a
23	chr17:17583879-17583929	BE2_C	brain:	n/a
24	chr17:17584403-17584453	HEK293	kidney:	embryo
25	chr17:17585774-17585824	HRCEpiC	kidney:	n/a
26	chr17:17586116-17586166	HNPCEpiC	eye:	n/a
27	chr17:17586474-17586524	NHBE	bronchial:	n/a
28	chr17:17584403-17584453	MCF-7	breast:	n/a
29	chr17:17585298-17585348	ECC-1	luminal epithelium:	n/a
30	chr17:17585774-17585824	Hela-S3	cervix:	n/a
31	chr17:17584403-17584453	HCF	heart:	n/a
32	chr17:17585774-17585824	SK-N-SH_RA	brain:	n/a
33	chr17:17584403-17584453	CMK	blood:	n/a
34	chr17:17584403-17584453	SKMC	muscle:	n/a
35	chr17:17584403-17584453	AoSMC	blood vessel:	n/a
36	chr17:17586474-17586524	HIPEpiC	eye:	n/a
37	chr17:17584403-17584453	SK-N-SH	brain:	n/a
38	chr17:17585338-17585388	ovcar-3	ovarian:	n/a
39	chr17:17586474-17586524	A549	lung:	n/a
40	chr17:17585774-17585824	MCF10A-Er-Src	breast:	n/a
41	chr17:17585298-17585348	HAEpiC	amniotic membrane:	n/a
42	chr17:17585774-17585824	MCF-7	breast:	n/a
43	chr17:17585774-17585824	AG09319	gingival:	n/a
44	chr17:17584505-17584555	A549	lung:	n/a
45	chr17:17584403-17584453	A549	lung:	n/a
46	chr17:17583879-17583929	HRPEpiC	eye:	n/a
47	chr17:17583879-17583929	HCT-116	colon:	n/a
48	chr17:17583879-17583929	HRE	kidney:	n/a
49	chr17:17584505-17584555	SKMC	muscle:	n/a
50	chr17:17586474-17586524	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17585064..17587457-chr17:17712160..17714917,4	K562	blood:
2	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
3	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
4	chr17:17585146..17587854-chr17:17712160..17713787,2	K562	blood:
5	chr17:17583643..17586896-chr17:17724231..17729521,8	MCF-7	breast:
6	chr17:17584408..17586554-chr17:17725797..17727625,2	K562	blood:
7	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
8	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
9	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
10	chr17:17584228..17586367-chr17:17721759..17723604,3	MCF-7	breast:
11	chr17:17583924..17586191-chr17:17941715..17944094,3	K562	blood:
12	chr17:17584806..17586554-chr17:17724863..17727625,2	K562	blood:
13	chr17:17584474..17587446-chr17:17720269..17722303,2	K562	blood:
14	chr17:17584818..17588540-chr17:17752581..17756325,4	K562	blood:
15	chr17:17582010..17584605-chr17:17704588..17707472,2	K562	blood:
16	chr17:17584110..17584675-chr17:17763112..17763841,2	MCF-7	breast:
17	chr17:17584674..17588119-chr17:17738170..17742427,6	K562	blood:
18	chr17:17584810..17586718-chr17:17672245..17674838,2	MCF-7	breast:
19	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
20	chr17:17584846..17587033-chr17:17696013..17697749,2	MCF-7	breast:
21	chr17:17584192..17584734-chr17:17642875..17643692,2	MCF-7	breast:
22	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
23	chr17:17582010..17583856-chr17:17705972..17708012,2	K562	blood:
24	chr17:17582120..17584481-chr17:17669635..17672296,2	K562	blood:
25	chr17:17584083..17584649-chr17:17715246..17716136,2	MCF-7	breast:
26	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
27	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
28	chr17:17584137..17584962-chr17:17739599..17740212,2	HCT-116	colon:
29	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
30	chr17:17586455..17590031-chr17:17707371..17710346,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED9-4	chr17:17585043-17585107	NONHSAT146100

Variant related genes	Relation type
SMCR2	TF binding region
RAI1	TF binding region
SMCR2	CpG island
RAI1	CpG island
ENSG00000237328	chromatin interactions
ENSG00000207839	chromatin interactions
ENSG00000175662	chromatin interactions
ENSG00000171953	chromatin interactions
ENSG00000141034	chromatin interactions
ENSG00000072310	chromatin interactions
ENSG00000108557	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35573954	chr17:17583127-17583128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565521882	chr17:17583167-17583168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74720708	chr17:17583217-17583218	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34109785	chr17:17583225-17583226	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs143538860	chr17:17583229-17583230	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544736559	chr17:17583304-17583305	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188591082	chr17:17583321-17583322	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529657639	chr17:17583355-17583356	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs76688055	chr17:17583375-17583376	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs563551158	chr17:17583451-17583452	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs532312688	chr17:17583452-17583453	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs112570473	chr17:17583521-17583522	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs6502614	chr17:17583597-17583598	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs527754834	chr17:17583606-17583607	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs35461633	chr17:17583650-17583651	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs181428773	chr17:17583699-17583700	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143709096	chr17:17583709-17583710	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs536603907	chr17:17583832-17583833	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs556294902	chr17:17583833-17583834	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs185279192	chr17:17583879-17583880	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs115776516	chr17:17583907-17583908	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs567093952	chr17:17583917-17583918	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs559173474	chr17:17583993-17583994	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs532836814	chr17:17583994-17583995	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs189300327	chr17:17584030-17584031	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs541659056	chr17:17584074-17584075	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs554676351	chr17:17584109-17584110	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs552547627	chr17:17584117-17584118	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs180879123	chr17:17584148-17584149	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs563175899	chr17:17584165-17584166	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs151070929	chr17:17584182-17584183	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs545717350	chr17:17584193-17584194	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs569116710	chr17:17584247-17584248	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs550084403	chr17:17584264-17584265	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs538015017	chr17:17584268-17584269	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs559240892	chr17:17584337-17584338	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs73292234	chr17:17584429-17584430	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548521176	chr17:17584481-17584482	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs547986991	chr17:17584484-17584485	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs567713587	chr17:17584571-17584572	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs530176367	chr17:17584676-17584677	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs550147965	chr17:17584691-17584692	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs569978272	chr17:17584694-17584695	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs371492716	chr17:17584712-17584713	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs539325025	chr17:17584719-17584720	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs559259793	chr17:17584720-17584721	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs566397667	chr17:17584740-17584741	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs535176889	chr17:17584745-17584746	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs112504358	chr17:17584751-17584752	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs574462653	chr17:17584813-17584814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17574800-17583600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:17576600-17584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:17576600-17584200	Weak transcription	Right Atrium	heart
4	chr17:17576800-17584200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr17:17577000-17584200	Weak transcription	Left Ventricle	heart
6	chr17:17579800-17584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:17579800-17584200	Weak transcription	Esophagus	oesophagus
8	chr17:17579800-17584200	Weak transcription	NH-A	brain
9	chr17:17580000-17584200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:17580000-17584200	Weak transcription	Fetal Lung	lung
11	chr17:17580000-17584200	Weak transcription	Lung	lung
12	chr17:17580000-17584200	Weak transcription	A549	lung
13	chr17:17580200-17584000	Weak transcription	Fetal Intestine Small	intestine
14	chr17:17580400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:17580400-17584000	Weak transcription	Hela-S3	cervix
16	chr17:17580400-17584200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:17580600-17584000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr17:17580600-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:17580600-17584000	Weak transcription	Fetal Kidney	kidney
20	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr17:17580600-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:17580600-17584200	Weak transcription	Thymus	Thymus
24	chr17:17580600-17584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:17580600-17585200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:17580800-17583800	Weak transcription	Fetal Thymus	thymus
27	chr17:17580800-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:17580800-17584200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr17:17580800-17584200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:17580800-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:17580800-17584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:17581000-17584800	Weak transcription	Primary T cells from cord blood	blood
33	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
34	chr17:17581200-17583800	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:17581200-17584000	Weak transcription	Fetal Intestine Large	intestine
36	chr17:17581200-17584200	Weak transcription	Brain Hippocampus Middle	brain
37	chr17:17581200-17584200	Weak transcription	Spleen	Spleen
38	chr17:17581200-17584200	Weak transcription	NHEK	skin
39	chr17:17581400-17583400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:17581400-17584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:17581400-17584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:17581400-17584000	Weak transcription	HMEC	breast
43	chr17:17581400-17584200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr17:17581400-17584200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:17581400-17584200	Weak transcription	GM12878-XiMat	blood
46	chr17:17581400-17584800	Weak transcription	HUVEC	blood vessel
47	chr17:17582000-17584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:17582000-17584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:17583200-17584000	Bivalent Enhancer	HepG2	liver
50	chr17:17583400-17584000	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links