Variant report

Variant	nsv524958
Chromosome Location	chr17:17029718-17060805
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	ATF2	chr17:17053544-17054162	GM12878	blood:	n/a	n/a
2	ATF2	chr17:17053678-17054061	GM12878	blood:	n/a	n/a
3	BATF	chr17:17053689-17054063	GM12878	blood:	n/a	n/a
4	BATF	chr17:17053416-17054190	GM12878	blood:	n/a	n/a
5	BATF	chr17:17054335-17054607	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:17053682-17054030	GM12878	blood:	n/a	n/a
7	BHLHE40	chr17:17045280-17045419	GM12878	blood:	n/a	n/a
8	BHLHE40	chr17:17053699-17054054	GM12878	blood:	n/a	n/a
9	BRCA1	chr17:17044624-17044750	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr17:17058440-17058572	K562	blood:	n/a	chr17:17058512-17058525
11	CEBPB	chr17:17059498-17059837	IMR90	lung:	n/a	n/a
12	CREB1	chr17:17045227-17045491	A549	lung:	n/a	n/a
13	CREB1	chr17:17055251-17055720	A549	lung:	n/a	n/a
14	CTCF	chr17:17045220-17045370	HFF-Myc	foreskin:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
15	CTCF	chr17:17045260-17045410	AG10803	skin:	n/a	chr17:17045349-17045365 chr17:17045348-17045366 chr17:17045351-17045364
16	CTCF	chr17:17045280-17045430	HBMEC	blood vessel:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
17	CTCF	chr17:17045260-17045410	AG04450	lung:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
18	CTCF	chr17:17045140-17045290	GM12864	blood:	n/a	n/a
19	CTCF	chr17:17044540-17044690	HMF	breast:	n/a	chr17:17044676-17044689
20	CTCF	chr17:17059000-17059150	GM12864	blood:	n/a	chr17:17059115-17059133 chr17:17059118-17059131
21	CTCF	chr17:17045300-17045450	GM06990	blood:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
22	CTCF	chr17:17059058-17059172	GM19240	blood:	n/a	chr17:17059115-17059133 chr17:17059157-17059170 chr17:17059118-17059131 chr17:17059157-17059166
23	CTCF	chr17:17045240-17045390	A549	lung:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
24	CTCF	chr17:17050155-17050302	Medullo	brain:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
25	CTCF	chr17:17033540-17033623	GM12878	blood:	n/a	n/a
26	CTCF	chr17:17050140-17050290	GM12872	blood:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
27	CTCF	chr17:17045234-17045488	A549	lung:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
28	CTCF	chr17:17044000-17044150	HMF	breast:	n/a	n/a
29	CTCF	chr17:17033480-17033630	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr17:17045300-17045450	GM12865	blood:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
31	CTCF	chr17:17059060-17059210	HCPEpiC	choroid plexus:	n/a	chr17:17059115-17059133 chr17:17059157-17059170 chr17:17059118-17059131 chr17:17059157-17059166
32	CTCF	chr17:17044000-17044150	RPTEC	kidney:	n/a	n/a
33	CTCF	chr17:17033516-17033640	LNCaP	prostate:	n/a	n/a
34	CTCF	chr17:17049955-17050378	H1-hESC	embryonic stem cell:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
35	CTCF	chr17:17045132-17045542	H1-hESC	embryonic stem cell:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
36	CTCF	chr17:17044080-17044230	AG10803	skin:	n/a	n/a
37	CTCF	chr17:17059049-17059208	GM19239	blood:	n/a	chr17:17059115-17059133 chr17:17059157-17059170 chr17:17059118-17059131 chr17:17059157-17059166
38	CTCF	chr17:17050160-17050310	GM12870	blood:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
39	CTCF	chr17:17045320-17045470	HRE	kidney:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
40	CTCF	chr17:17045161-17045660	IMR90	lung:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
41	CTCF	chr17:17059057-17059207	Spleen_OC	spleen:	n/a	chr17:17059115-17059133 chr17:17059157-17059170 chr17:17059118-17059131 chr17:17059157-17059166
42	CTCF	chr17:17045240-17045390	SAEC	small airway:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
43	CTCF	chr17:17045240-17045390	HAc	cerebellar:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
44	CTCF	chr17:17050140-17050290	A549	lung:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249
45	CTCF	chr17:17045200-17045350	HFF	foreskin:	n/a	n/a
46	CTCF	chr17:17033565-17033588	LNCaP	prostate:	n/a	n/a
47	CTCF	chr17:17033446-17033669	MCF-7	breast:	n/a	n/a
48	CTCF	chr17:17045246-17045462	GM13976	blood:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
49	CTCF	chr17:17045299-17045400	Medullo	brain:	n/a	chr17:17045349-17045365 chr17:17045351-17045364 chr17:17045348-17045366
50	CTCF	chr17:17050001-17050312	T-47D	breast:	n/a	chr17:17050234-17050252 chr17:17050242-17050250 chr17:17050190-17050208 chr17:17050236-17050249 chr17:17050239-17050257 chr17:17050196-17050205 chr17:17050241-17050249

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17046995-17047045	HUVEC	blood vessel:	n/a
2	chr17:17046995-17047045	RPTEC	kidney:	n/a
3	chr17:17046995-17047045	HUVEC	blood vessel:	n/a
4	chr17:17046995-17047045	RPTEC	kidney:	n/a
5	chr17:17046995-17047045	GM12892	blood:	n/a
6	chr17:17055584-17055634	GM06990	blood:	n/a
7	chr17:17030253-17030303	SKMC	muscle:	n/a
8	chr17:17035777-17035827	BE2_C	brain:	n/a
9	chr17:17058422-17058472	H1-hESC	embryonic stem cell:	embryo
10	chr17:17044218-17044268	HRE	kidney:	n/a
11	chr17:17030253-17030303	NB4	blood:	n/a
12	chr17:17044218-17044268	BJ	skin:	n/a
13	chr17:17055584-17055634	GM12891	blood:	n/a
14	chr17:17047044-17047094	ProgFib	skin:	n/a
15	chr17:17055584-17055634	AG10803	skin:	n/a
16	chr17:17056629-17056679	RPTEC	kidney:	n/a
17	chr17:17056629-17056679	GM19239	blood:	n/a
18	chr17:17035777-17035827	HUVEC	blood vessel:	n/a
19	chr17:17044218-17044268	PFSK-1	brain:	n/a
20	chr17:17035777-17035827	GM12878	blood:	n/a
21	chr17:17056629-17056679	SKMC	muscle:	n/a
22	chr17:17046995-17047045	GM12891	blood:	n/a
23	chr17:17055584-17055634	PFSK-1	brain:	n/a
24	chr17:17035777-17035827	GM12892	blood:	n/a
25	chr17:17046995-17047045	SKMC	muscle:	n/a
26	chr17:17058422-17058472	HCF	heart:	n/a
27	chr17:17058422-17058472	PrEC	prostate:	n/a
28	chr17:17055584-17055634	Caco-2	colon:	n/a
29	chr17:17035777-17035827	HEEpiC	esophagus:	n/a
30	chr17:17056629-17056679	GM12878	blood:	n/a
31	chr17:17047044-17047094	GM12891	blood:	n/a
32	chr17:17046995-17047045	NHBE	bronchial:	n/a
33	chr17:17046995-17047045	U87	brain:	n/a
34	chr17:17047044-17047094	SK-N-MC	brain:	n/a
35	chr17:17030253-17030303	GM06990	blood:	n/a
36	chr17:17035777-17035827	HNPCEpiC	eye:	n/a
37	chr17:17047044-17047094	HCPEpiC	choroid plexus:	n/a
38	chr17:17056629-17056679	HCT-116	colon:	n/a
39	chr17:17047044-17047094	T-47D	breast:	n/a
40	chr17:17044218-17044268	NB4	blood:	n/a
41	chr17:17044218-17044268	U87	brain:	n/a
42	chr17:17055584-17055634	ProgFib	skin:	n/a
43	chr17:17046995-17047045	AG10803	skin:	n/a
44	chr17:17047044-17047094	NT2-D1	testis:	n/a
45	chr17:17058422-17058472	HCT-116	colon:	n/a
46	chr17:17055584-17055634	NH-A	brain:	n/a
47	chr17:17046995-17047045	Caco-2	colon:	n/a
48	chr17:17047044-17047094	K562	blood:	n/a
49	chr17:17035777-17035827	ECC-1	luminal epithelium:	n/a
50	chr17:17056629-17056679	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:17028360..17030286-chr17:17031836..17034332,2	MCF-7	breast:
2	chr17:17030511..17032760-chr17:17032782..17034676,2	MCF-7	breast:
3	chr17:16904876..16905537-chr17:17045251..17045788,2	MCF-7	breast:
4	chr17:17045331..17046239-chr17:17216672..17217525,2	K562	blood:
5	chr17:17030511..17032760-chr17:17032782..17034676,2	MCF-7	breast:
6	chr17:17041398..17043468-chr17:17045137..17047861,3	K562	blood:
7	chr17:17032608..17034755-chr17:17042355..17044187,2	K562	blood:
8	chr17:17028360..17030286-chr17:17031836..17034332,2	MCF-7	breast:
9	chr17:17038716..17041244-chr17:17042490..17044095,2	K562	blood:
10	chr17:17032608..17034755-chr17:17042355..17044187,2	K562	blood:
11	chr17:17041998..17043566-chr17:17047044..17048728,2	MCF-7	breast:
12	chr17:16913379..16913893-chr17:17049733..17050556,2	MCF-7	breast:
13	chr17:16904469..16905319-chr17:17033142..17034016,2	MCF-7	breast:
14	chr17:17023341..17025938-chr17:17027098..17030092,2	K562	blood:
15	chr17:17043821..17046160-chr17:17108071..17109890,2	MCF-7	breast:
16	chr17:17042215..17045044-chr17:17066488..17068871,2	K562	blood:
17	chr17:17026085..17028374-chr17:17031939..17033619,2	K562	blood:
18	chr17:16900759..16901437-chr17:17049801..17050705,2	MCF-7	breast:
19	chr17:17046258..17049165-chr17:17140105..17142277,2	K562	blood:
20	chr17:17047306..17049744-chr17:17082516..17085207,2	K562	blood:
21	chr17:16990508..16991413-chr17:17037250..17038091,2	MCF-7	breast:
22	chr17:17022152..17024534-chr17:17033092..17034855,2	MCF-7	breast:
23	chr17:16904364..16905851-chr17:17049827..17050726,8	MCF-7	breast:
24	chr17:17041398..17043468-chr17:17045137..17047861,3	K562	blood:
25	chr17:17050223..17052040-chr17:17108443..17111394,2	MCF-7	breast:
26	chr17:17053885..17056874-chr17:17067552..17069727,2	K562	blood:
27	chr17:17041998..17043566-chr17:17047044..17048728,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C17orf84-2	chr17:17044809-17045074	NONHSAT146048
2	lnc-C17orf84-2	chr17:17045324-17045626	NONHSAT146048

Variant related genes	Relation type
MPRIP	TF binding region
MPRIP	CpG island
ENSG00000133030	chromatin interactions
ENSG00000179598	chromatin interactions
ENSG00000154803	chromatin interactions
ENSG00000264187	chromatin interactions

Extended variants
information (count: 1250 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4985701	chr17:17029718-17029719	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190904389	chr17:17029840-17029841	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538042804	chr17:17029848-17029849	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552096716	chr17:17029886-17029887	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571824268	chr17:17029915-17029916	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567300843	chr17:17029959-17029960	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377105206	chr17:17029990-17029991	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200879710	chr17:17029997-17029998	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1877631	chr17:17030003-17030004	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149399765	chr17:17030071-17030072	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs372089723	chr17:17030083-17030084	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144748621	chr17:17030116-17030117	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573427184	chr17:17030117-17030118	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs140002644	chr17:17030129-17030130	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373015963	chr17:17030144-17030145	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143894898	chr17:17030156-17030157	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377046032	chr17:17030170-17030171	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369900323	chr17:17030180-17030181	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs202074039	chr17:17030187-17030188	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs202089302	chr17:17030200-17030201	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200605425	chr17:17030203-17030204	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201267611	chr17:17030206-17030207	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544873885	chr17:17030223-17030224	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs145309229	chr17:17030233-17030234	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368535516	chr17:17030253-17030254	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs371673872	chr17:17030254-17030255	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs567093431	chr17:17030264-17030265	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs573116777	chr17:17030268-17030269	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs540651389	chr17:17030282-17030283	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs560478764	chr17:17030297-17030298	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs147635650	chr17:17030313-17030314	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs74521076	chr17:17030331-17030332	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142204306	chr17:17030347-17030348	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531959929	chr17:17030356-17030357	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551666115	chr17:17030375-17030376	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs118023997	chr17:17030390-17030391	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538652749	chr17:17030399-17030400	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs546994997	chr17:17030404-17030405	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181548085	chr17:17030450-17030451	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs535835321	chr17:17030454-17030455	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556271809	chr17:17030456-17030457	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs2292526	chr17:17030475-17030476	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs145938256	chr17:17030479-17030480	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558438675	chr17:17030536-17030537	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572306387	chr17:17030559-17030560	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113696061	chr17:17030567-17030568	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140501061	chr17:17030582-17030583	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574126027	chr17:17030625-17030626	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs377136582	chr17:17030648-17030649	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs543019332	chr17:17030651-17030652	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	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
Pancreatic cancer	21811587	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1313 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:17015800-17030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:17019800-17031200	Weak transcription	Hela-S3	cervix
7	chr17:17022800-17029800	Weak transcription	Dnd41	blood
8	chr17:17023000-17030200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr17:17023200-17034200	Weak transcription	NH-A	brain
10	chr17:17023600-17030600	Weak transcription	Osteobl	bone
11	chr17:17023800-17029800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:17024400-17030200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:17024400-17030200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:17024400-17030200	Weak transcription	HMEC	breast
16	chr17:17024400-17032800	Weak transcription	HUVEC	blood vessel
17	chr17:17024400-17039800	Weak transcription	Small Intestine	intestine
18	chr17:17024600-17036000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:17024800-17030000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:17024800-17030200	Weak transcription	Liver	Liver
22	chr17:17024800-17030200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:17024800-17030600	Weak transcription	HepG2	liver
24	chr17:17024800-17034200	Weak transcription	Fetal Kidney	kidney
25	chr17:17025000-17029800	Weak transcription	Colonic Mucosa	Colon
26	chr17:17025000-17029800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:17025000-17030000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:17025000-17030200	Weak transcription	Fetal Lung	lung
29	chr17:17025000-17030200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr17:17025000-17031400	Weak transcription	Ovary	ovary
31	chr17:17025000-17031400	Weak transcription	Stomach Mucosa	stomach
32	chr17:17025200-17030200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:17026000-17030400	Enhancers	Left Ventricle	heart
34	chr17:17026400-17034200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:17026600-17030200	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:17026600-17030200	Weak transcription	Pancreas	Pancrea
37	chr17:17027200-17032600	Enhancers	Psoas Muscle	Psoas
38	chr17:17027400-17030200	Enhancers	Thymus	Thymus
39	chr17:17027400-17030400	Enhancers	Fetal Thymus	thymus
40	chr17:17027400-17031800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:17027400-17032000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:17027400-17032200	Enhancers	Right Atrium	heart
43	chr17:17027400-17042400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:17027400-17043000	Strong transcription	NHEK	skin
45	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:17027600-17030000	Enhancers	Spleen	Spleen
47	chr17:17027600-17030800	Enhancers	Brain Angular Gyrus	brain
48	chr17:17027600-17033400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:17027800-17029800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:17027800-17029800	Enhancers	Right Ventricle	heart

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