Variant report

Variant	esv10435
Chromosome Location	chr17:15902625-15904710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:673)
CpG islands
(count:610)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:15902968-15903142	K562	blood:	n/a	n/a
2	ARID3A	chr17:15902481-15903240	HepG2	liver:	n/a	n/a
3	ATF1	chr17:15902769-15903231	K562	blood:	n/a	n/a
4	ATF2	chr17:15902507-15903189	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr17:15902636-15903255	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr17:15902715-15903257	GM12878	blood:	n/a	n/a
7	ATF3	chr17:15902730-15903281	A549	lung:	n/a	chr17:15902790-15902799
8	ATF3	chr17:15902819-15903127	K562	blood:	n/a	n/a
9	ATF3	chr17:15902763-15903342	A549	lung:	n/a	chr17:15902790-15902799
10	BACH1	chr17:15902645-15903078	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr17:15904612-15904828	GM12878	blood:	n/a	chr17:15904756-15904767 chr17:15904700-15904711 chr17:15904723-15904734
12	BCL3	chr17:15902497-15903276	A549	lung:	n/a	n/a
13	BCL3	chr17:15903451-15904309	A549	lung:	n/a	n/a
14	BCL3	chr17:15902474-15903301	A549	lung:	n/a	n/a
15	BCLAF1	chr17:15902696-15903341	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:15902549-15903997	GM12878	blood:	n/a	n/a
17	BHLHE40	chr17:15902657-15903522	HepG2	liver:	n/a	n/a
18	BHLHE40	chr17:15902623-15903918	K562	blood:	n/a	n/a
19	BRCA1	chr17:15903537-15903576	GM12878	blood:	n/a	n/a
20	BRCA1	chr17:15903473-15903673	HepG2	liver:	n/a	n/a
21	BRCA1	chr17:15902601-15903197	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr17:15902858-15903099	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr17:15902961-15903161	HepG2	liver:	n/a	n/a
24	CBX3	chr17:15902679-15903307	K562	blood:	n/a	n/a
25	CCNT2	chr17:15902517-15903732	K562	blood:	n/a	n/a
26	CEBPB	chr17:15902846-15903092	HepG2	liver:	n/a	n/a
27	CEBPB	chr17:15902790-15903163	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr17:15902576-15903243	A549	lung:	n/a	n/a
29	CEBPB	chr17:15902622-15903215	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr17:15902994-15903367	HepG2	liver:	n/a	n/a
31	CEBPD	chr17:15903069-15903312	HepG2	liver:	n/a	n/a
32	CEBPD	chr17:15902690-15902993	HepG2	liver:	n/a	n/a
33	CHD1	chr17:15902514-15903250	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr17:15902547-15903832	GM12878	blood:	n/a	n/a
35	CHD1	chr17:15903450-15903888	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr17:15902514-15903566	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr17:15902866-15903251	K562	blood:	n/a	n/a
38	CHD2	chr17:15902488-15903190	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr17:15902587-15903261	HepG2	liver:	n/a	n/a
40	CHD2	chr17:15902511-15903619	GM12878	blood:	n/a	n/a
41	CHD2	chr17:15903470-15903640	HepG2	liver:	n/a	n/a
42	CREB1	chr17:15902574-15903640	K562	blood:	n/a	n/a
43	CREB1	chr17:15902517-15903657	GM12878	blood:	n/a	n/a
44	CREB1	chr17:15902545-15903373	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr17:15902427-15903819	A549	lung:	n/a	n/a
46	CREB1	chr17:15902623-15903388	GM12878	blood:	n/a	n/a
47	CREB1	chr17:15902553-15903678	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr17:15902549-15903358	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr17:15902769-15903458	A549	lung:	n/a	n/a
50	CREB1	chr17:15902538-15903475	K562	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15903290-15903340	AG10803	skin:	n/a
2	chr17:15902952-15903002	Hepatocyte	liver:	n/a
3	chr17:15902837-15902887	RPTEC	kidney:	n/a
4	chr17:15902952-15903002	AoSMC	blood vessel:	n/a
5	chr17:15902837-15902887	CMK	blood:	n/a
6	chr17:15902952-15903002	GM06990	blood:	n/a
7	chr17:15903687-15903737	NB4	blood:	n/a
8	chr17:15902660-15902710	HCF	heart:	n/a
9	chr17:15902694-15902744	GM06990	blood:	n/a
10	chr17:15903739-15903789	BE2_C	brain:	n/a
11	chr17:15903290-15903340	HIPEpiC	eye:	n/a
12	chr17:15902660-15902710	AG09319	gingival:	n/a
13	chr17:15902795-15902845	Hepatocyte	liver:	n/a
14	chr17:15903739-15903789	HRE	kidney:	n/a
15	chr17:15903687-15903737	HCF	heart:	n/a
16	chr17:15903687-15903737	A549	lung:	n/a
17	chr17:15902837-15902887	A549	lung:	n/a
18	chr17:15902633-15902683	PrEC	prostate:	n/a
19	chr17:15902952-15903002	Caco-2	colon:	n/a
20	chr17:15902837-15902887	NHBE	bronchial:	n/a
21	chr17:15902660-15902710	NB4	blood:	n/a
22	chr17:15903096-15903146	K562	blood:	n/a
23	chr17:15902694-15902744	AG10803	skin:	n/a
24	chr17:15902633-15902683	K562	blood:	n/a
25	chr17:15903739-15903789	K562	blood:	n/a
26	chr17:15902795-15902845	Caco-2	colon:	n/a
27	chr17:15902952-15903002	ProgFib	skin:	n/a
28	chr17:15902694-15902744	HL-60	blood:	n/a
29	chr17:15902795-15902845	HCF	heart:	n/a
30	chr17:15903739-15903789	HEK293	kidney:	embryo
31	chr17:15903687-15903737	HNPCEpiC	eye:	n/a
32	chr17:15902633-15902683	AG04450	lung:	fetal
33	chr17:15902795-15902845	SAEC	small airway:	n/a
34	chr17:15902795-15902845	HRE	kidney:	n/a
35	chr17:15903687-15903737	NT2-D1	testis:	n/a
36	chr17:15903687-15903737	K562	blood:	n/a
37	chr17:15902633-15902683	HRE	kidney:	n/a
38	chr17:15903290-15903340	HepG2	liver:	n/a
39	chr17:15903096-15903146	BJ	skin:	n/a
40	chr17:15902795-15902845	GM19239	blood:	n/a
41	chr17:15903739-15903789	HAEpiC	amniotic membrane:	n/a
42	chr17:15902837-15902887	AG10803	skin:	n/a
43	chr17:15903739-15903789	AG04449	skin:	fetal
44	chr17:15903096-15903146	HEEpiC	esophagus:	n/a
45	chr17:15903739-15903789	A549	lung:	n/a
46	chr17:15902952-15903002	NB4	blood:	n/a
47	chr17:15902837-15902887	HUVEC	blood vessel:	n/a
48	chr17:15902837-15902887	HCT-116	colon:	n/a
49	chr17:15902837-15902887	NT2-D1	testis:	n/a
50	chr17:15902952-15903002	HL-60	blood:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15902503..15903133-chr2:47403392..47404131,2	Hela-S3	cervix:
2	chr14:103851233..103852207-chr17:15902803..15903546,2	Hela-S3	cervix:
3	chr17:15904178..15905978-chr17:15910048..15912649,2	K562	blood:
4	chr17:15903246..15906052-chr17:15922157..15923827,2	K562	blood:
5	chr17:15902723..15903444-chr6:33239440..33240262,2	Hela-S3	cervix:
6	chr17:15903003..15903658-chr3:58419013..58419568,2	Hela-S3	cervix:
7	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
8	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
9	chr1:201979391..201980146-chr17:15902285..15903134,2	HCT-116	colon:
10	chr17:15902947..15903675-chr3:13036144..13036734,2	HCT-116	colon:
11	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
12	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
13	chr17:15902291..15902878-chr2:128284164..128285109,2	Hela-S3	cervix:
14	chr17:15902768..15903899-chr17:28443566..28444410,4	Hela-S3	cervix:
15	chr17:15902833..15904760-chr6:36560081..36562518,2	MCF-7	breast:
16	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:
17	chr17:15903242..15905259-chr17:15927209..15928896,2	K562	blood:
18	chr17:15731737..15732560-chr17:15901825..15902694,3	MCF-7	breast:
19	chr17:15903168..15903881-chr5:20690072..20690742,2	Hela-S3	cervix:
20	chr17:15902395..15902947-chrX:46404691..46405453,2	Hela-S3	cervix:
21	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
22	chr17:15876176..15878196-chr17:15903917..15906445,2	K562	blood:
23	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:
24	chr17:15902603..15903275-chr3:150264080..150264900,2	Hela-S3	cervix:
25	chr11:125439057..125439579-chr17:15902732..15903484,2	NB4	blood:

No data

Variant related genes	Relation type
ZSWIM7	TF binding region
TTC19	TF binding region
ZSWIM7	CpG island
TTC19	CpG island
ENSG00000075413	chromatin interactions
ENSG00000163166	chromatin interactions
ENSG00000230844	chromatin interactions
ENSG00000168291	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000108474	chromatin interactions
ENSG00000170425	chromatin interactions
ENSG00000144711	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000251192	chromatin interactions
ENSG00000251537	chromatin interactions
ENSG00000266261	chromatin interactions
ENSG00000199071	chromatin interactions
ENSG00000126653	chromatin interactions
ENSG00000149547	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 161 )

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	rs61747652	chr17:15902649-15902650	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181319779	chr17:15902663-15902664	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs530965208	chr17:15902677-15902678	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs558333004	chr17:15902678-15902679	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs62641246	chr17:15902686-15902687	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs61747574	chr17:15902711-15902712	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34500011	chr17:15902734-15902735	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs534275160	chr17:15902766-15902767	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs60636875	chr17:15902816-15902817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376486235	chr17:15902822-15902823	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs200004394	chr17:15902823-15902824	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs544159811	chr17:15902835-15902836	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
13	rs557565073	chr17:15902837-15902838	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
14	rs200271348	chr17:15902871-15902872	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
15	rs577487170	chr17:15902934-15902935	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
16	rs546395829	chr17:15902937-15902938	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
17	rs200178597	chr17:15902945-15902946	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
18	rs559550575	chr17:15902950-15902951	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs373603403	chr17:15902967-15902968	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs199843558	chr17:15902973-15902974	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs541854799	chr17:15902982-15902983	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs561788137	chr17:15902990-15902991	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs376485327	chr17:15902991-15902992	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs73276077	chr17:15902994-15902995	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549693931	chr17:15903020-15903021	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs569629414	chr17:15903035-15903036	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
27	rs79724115	chr17:15903056-15903057	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
28	rs368411974	chr17:15903080-15903081	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs149555498	chr17:15903090-15903091	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs565635487	chr17:15903116-15903117	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs375265216	chr17:15903133-15903134	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs73276080	chr17:15903148-15903149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2302414	chr17:15903162-15903163	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550775797	chr17:15903185-15903186	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs568088809	chr17:15903187-15903188	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs11554355	chr17:15903275-15903276	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs11554352	chr17:15903277-15903278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs11554354	chr17:15903296-15903297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs537063695	chr17:15903308-15903309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs367929890	chr17:15903514-15903515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs371805295	chr17:15903530-15903531	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs557654875	chr17:15903541-15903542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs376452760	chr17:15903585-15903586	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs369975691	chr17:15903599-15903600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs758853	chr17:15903602-15903603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs546037472	chr17:15903611-15903612	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs553580702	chr17:15903657-15903658	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs528980078	chr17:15903660-15903661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs185011810	chr17:15903695-15903696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs542345054	chr17:15903696-15903697	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15901600-15902800	Flanking Active TSS	GM12878-XiMat	blood
2	chr17:15901600-15903800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:15901600-15904000	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr17:15901600-15904400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15901600-15904400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:15901800-15902800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr17:15901800-15902800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr17:15901800-15903800	Active TSS	Brain Angular Gyrus	brain
9	chr17:15901800-15903800	Active TSS	Brain Anterior Caudate	brain
10	chr17:15901800-15903800	Active TSS	Brain Cingulate Gyrus	brain
11	chr17:15901800-15903800	Active TSS	Brain Hippocampus Middle	brain
12	chr17:15901800-15903800	Active TSS	Fetal Kidney	kidney
13	chr17:15901800-15904000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:15901800-15904000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:15901800-15904000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:15901800-15904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:15901800-15904000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:15901800-15904000	Active TSS	Fetal Intestine Large	intestine
19	chr17:15901800-15904000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:15901800-15904000	Active TSS	NHEK	skin
21	chr17:15901800-15904200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr17:15901800-15904200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr17:15901800-15904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr17:15901800-15904600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:15901800-15904600	Active TSS	Stomach Smooth Muscle	stomach
26	chr17:15902000-15902800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr17:15902000-15902800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr17:15902000-15902800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:15902000-15902800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr17:15902000-15902800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15902000-15902800	Active TSS	Right Atrium	heart
32	chr17:15902000-15903000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:15902000-15903400	Active TSS	Fetal Muscle Leg	muscle
34	chr17:15902000-15903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:15902000-15903600	Active TSS	Adipose Nuclei	Adipose
36	chr17:15902000-15903600	Active TSS	Placenta	Placenta
37	chr17:15902000-15903600	Active TSS	Thymus	Thymus
38	chr17:15902000-15903800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:15902000-15903800	Active TSS	Primary T cells from cord blood	blood
40	chr17:15902000-15903800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr17:15902000-15903800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:15902000-15903800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:15902000-15903800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr17:15902000-15903800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:15902000-15903800	Active TSS	Fetal Brain Female	brain
46	chr17:15902000-15903800	Active TSS	Fetal Lung	lung
47	chr17:15902000-15903800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr17:15902000-15903800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr17:15902000-15903800	Active TSS	Osteobl	bone
50	chr17:15902000-15904000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links