Variant report

Variant	nsv1059280
Chromosome Location	chr17:16975059-17017957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:509)
CpG islands
(count:550)
Chromatin interactive
region (count:86)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:16981870-16981875	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:16999783-17000060	HepG2	liver:	n/a	n/a
3	ATF3	chr17:16981575-16981832	HepG2	liver:	n/a	n/a
4	BATF	chr17:17011302-17011581	GM12878	blood:	n/a	n/a
5	BHLHE40	chr17:16992621-16992706	K562	blood:	n/a	n/a
6	BHLHE40	chr17:16982709-16982878	K562	blood:	n/a	n/a
7	BHLHE40	chr17:16991183-16991835	K562	blood:	n/a	n/a
8	BHLHE40	chr17:16981531-16981951	HepG2	liver:	n/a	n/a
9	BHLHE40	chr17:16999894-17000042	HepG2	liver:	n/a	n/a
10	CEBPB	chr17:16989230-16989432	HepG2	liver:	n/a	chr17:16989336-16989347
11	CEBPB	chr17:16999803-17000187	HepG2	liver:	n/a	n/a
12	CEBPB	chr17:16985835-16986191	HepG2	liver:	n/a	chr17:16986003-16986014
13	CEBPB	chr17:16981665-16982014	HepG2	liver:	n/a	n/a
14	CEBPB	chr17:16999833-17000124	HepG2	liver:	n/a	n/a
15	CEBPB	chr17:16985873-16986106	K562	blood:	n/a	chr17:16986003-16986014
16	CEBPB	chr17:16985862-16986103	IMR90	lung:	n/a	chr17:16986003-16986014
17	CEBPB	chr17:16985845-16986147	A549	lung:	n/a	chr17:16986003-16986014
18	CEBPB	chr17:16999797-17000192	HepG2	liver:	n/a	n/a
19	CEBPB	chr17:16983131-16983219	HepG2	liver:	n/a	n/a
20	CEBPB	chr17:16977730-16977930	Hela-S3	cervix:	n/a	chr17:16977869-16977880
21	CEBPB	chr17:16985907-16986095	HepG2	liver:	n/a	chr17:16986003-16986014
22	CEBPB	chr17:16989247-16989447	IMR90	lung:	n/a	chr17:16989336-16989347
23	CEBPB	chr17:16977688-16978064	IMR90	lung:	n/a	chr17:16977869-16977880
24	CEBPB	chr17:16977694-16978036	K562	blood:	n/a	chr17:16977869-16977880
25	CEBPB	chr17:16989248-16989448	A549	lung:	n/a	chr17:16989336-16989347
26	CEBPB	chr17:16977709-16978025	A549	lung:	n/a	chr17:16977869-16977880
27	CEBPB	chr17:16976245-16976463	IMR90	lung:	n/a	n/a
28	CEBPB	chr17:16999806-17000209	HepG2	liver:	n/a	n/a
29	CEBPB	chr17:16999833-17000139	IMR90	lung:	n/a	n/a
30	CEBPB	chr17:16977713-16977913	HepG2	liver:	n/a	chr17:16977869-16977880
31	CEBPD	chr17:16999837-17000048	HepG2	liver:	n/a	n/a
32	CEBPD	chr17:16999842-17000152	HepG2	liver:	n/a	n/a
33	CTCF	chr17:17012580-17012830	NHLF	lung:	n/a	n/a
34	CTCF	chr17:17012660-17012810	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr17:17016800-17016950	AG04450	lung:	n/a	n/a
36	CTCF	chr17:16982780-16982930	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr17:16990867-16991110	NHEK	skin:	n/a	chr17:16990978-16990996
38	CTCF	chr17:17012649-17012847	MCF-7	breast:	n/a	n/a
39	CTCF	chr17:17006580-17006730	GM12866	blood:	n/a	n/a
40	CTCF	chr17:16990941-16991056	MCF-7	breast:	n/a	chr17:16990978-16990996
41	CTCF	chr17:16978840-16978990	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr17:17012591-17012911	GM12878	blood:	n/a	n/a
43	CTCF	chr17:16990960-16991110	NHEK	skin:	n/a	chr17:16990978-16990996
44	CTCF	chr17:17012059-17012289	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:16999448-16999473	MCF-7	breast:	n/a	n/a
46	CTCF	chr17:17004023-17004081	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr17:16990860-16991010	WERI-Rb-1	eye:	n/a	chr17:16990978-16990996
48	CTCF	chr17:17012657-17012825	GM12878	blood:	n/a	n/a
49	CTCF	chr17:16990820-16990970	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr17:17012660-17012810	AG04450	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16998439-16998489	U87	brain:	n/a
2	chr17:16998439-16998489	U87	brain:	n/a
3	chr17:16998439-16998489	HAEpiC	amniotic membrane:	n/a
4	chr17:17001380-17001430	AG04449	skin:	fetal
5	chr17:16978673-16978723	SK-N-MC	brain:	n/a
6	chr17:17001380-17001430	SAEC	small airway:	n/a
7	chr17:16996150-16996200	SK-N-SH	brain:	n/a
8	chr17:16996150-16996200	PANC-1	pancreas:	n/a
9	chr17:16976475-16976525	GM12892	blood:	n/a
10	chr17:17011443-17011493	GM12892	blood:	n/a
11	chr17:16999983-17000033	AG04450	lung:	fetal
12	chr17:16999983-17000033	HCF	heart:	n/a
13	chr17:17011443-17011493	PANC-1	pancreas:	n/a
14	chr17:17001380-17001430	MCF10A-Er-Src	breast:	n/a
15	chr17:17001380-17001430	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:16994978-16995028	Hepatocyte	liver:	n/a
17	chr17:17001380-17001430	HEEpiC	esophagus:	n/a
18	chr17:16998439-16998489	MCF10A-Er-Src	breast:	n/a
19	chr17:17001380-17001430	NH-A	brain:	n/a
20	chr17:17011443-17011493	NH-A	brain:	n/a
21	chr17:16976475-16976525	HEEpiC	esophagus:	n/a
22	chr17:16976475-16976525	HCM	heart:	n/a
23	chr17:16978673-16978723	HUVEC	blood vessel:	n/a
24	chr17:16976475-16976525	HepG2	liver:	n/a
25	chr17:16996150-16996200	Hepatocyte	liver:	n/a
26	chr17:16996150-16996200	LNCaP	prostate:	n/a
27	chr17:16999983-17000033	HCM	heart:	n/a
28	chr17:17001380-17001430	GM12878	blood:	n/a
29	chr17:16978673-16978723	GM12878	blood:	n/a
30	chr17:17001380-17001430	RPTEC	kidney:	n/a
31	chr17:16999983-17000033	NB4	blood:	n/a
32	chr17:16976475-16976525	BJ	skin:	n/a
33	chr17:16976475-16976525	AG09319	gingival:	n/a
34	chr17:16978673-16978723	HCPEpiC	choroid plexus:	n/a
35	chr17:16996150-16996200	GM12892	blood:	n/a
36	chr17:16994978-16995028	CMK	blood:	n/a
37	chr17:17011443-17011493	HMEC	breast:	n/a
38	chr17:17011443-17011493	SK-N-SH_RA	brain:	n/a
39	chr17:17011443-17011493	HEEpiC	esophagus:	n/a
40	chr17:17011443-17011493	Jurkat	blood:	n/a
41	chr17:17011443-17011493	RPTEC	kidney:	n/a
42	chr17:16999983-17000033	HEEpiC	esophagus:	n/a
43	chr17:16984622-16984672	PrEC	prostate:	n/a
44	chr17:17011443-17011493	HCF	heart:	n/a
45	chr17:16978673-16978723	LNCaP	prostate:	n/a
46	chr17:16984622-16984672	NHDF-neo	bronchial:	n/a
47	chr17:16994978-16995028	HAEpiC	amniotic membrane:	n/a
48	chr17:16994978-16995028	PANC-1	pancreas:	n/a
49	chr17:17001380-17001430	K562	blood:	n/a
50	chr17:16984622-16984672	NH-A	brain:	n/a

(count:86 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:17000263..17003828-chr17:17006059..17008926,3	MCF-7	breast:
2	chr17:16979942..16982735-chr17:16985953..16987965,3	K562	blood:
3	chr17:17011246..17012755-chr17:17014614..17017121,2	K562	blood:
4	chr17:16978722..16982652-chr17:16983061..16985478,3	K562	blood:
5	chr17:16984318..16990325-chr17:16990439..16995530,6	K562	blood:
6	chr17:17017540..17019089-chr17:17022012..17023742,2	MCF-7	breast:
7	chr17:16992481..16994529-chr17:17001211..17003120,2	MCF-7	breast:
8	chr17:16996588..16998552-chr17:17003380..17006242,3	MCF-7	breast:
9	chr17:17001973..17004582-chr17:17006426..17009352,2	MCF-7	breast:
10	chr17:16960541..16963488-chr17:16973669..16975731,3	MCF-7	breast:
11	chr17:16978185..16979772-chr17:16981297..16982977,2	MCF-7	breast:
12	chr17:16990609..16992779-chr17:16995614..16997816,2	MCF-7	breast:
13	chr17:16944252..16948072-chr17:16988311..16992318,5	MCF-7	breast:
14	chr17:16973117..16976449-chr17:16977265..16979682,3	MCF-7	breast:
15	chr17:16980830..16981423-chr17:16990564..16991343,3	MCF-7	breast:
16	chr17:16971774..16974202-chr17:16976172..16978952,3	K562	blood:
17	chr17:16944950..16947727-chr17:16993127..16994716,2	MCF-7	breast:
18	chr17:16990609..16992779-chr17:16995614..16997816,2	MCF-7	breast:
19	chr17:17001973..17004582-chr17:17006426..17009352,2	MCF-7	breast:
20	chr17:17006504..17008901-chr17:17010774..17012390,2	MCF-7	breast:
21	chr17:17006139..17008392-chr17:17014164..17016773,2	K562	blood:
22	chr17:16920470..16922796-chr17:16981423..16984163,2	MCF-7	breast:
23	chr17:16975491..16978124-chr17:16978720..16981255,2	K562	blood:
24	chr17:16973117..16976449-chr17:16977265..16979682,3	MCF-7	breast:
25	chr17:16784922..16787392-chr17:16982105..16984669,2	K562	blood:
26	chr17:17000263..17003828-chr17:17006059..17008926,3	MCF-7	breast:
27	chr17:16989031..16991528-chr17:17000273..17002775,2	MCF-7	breast:
28	chr17:16978492..16979412-chr17:16990508..16991542,7	MCF-7	breast:
29	chr17:16983913..16986213-chr17:16997467..16999480,2	MCF-7	breast:
30	chr17:16992165..16993827-chr17:16999457..17002093,2	K562	blood:
31	chr17:17014931..17017643-chr17:17019821..17021328,2	K562	blood:
32	chr17:16956631..16959260-chr17:16983096..16985186,2	MCF-7	breast:
33	chr17:16980593..16981423-chr17:16990564..16991343,4	MCF-7	breast:
34	chr17:16961416..16963930-chr17:16973048..16975828,2	MCF-7	breast:
35	chr17:16904847..16905768-chr17:17011815..17012591,3	MCF-7	breast:
36	chr17:16981643..16982315-chr17:16990804..16991337,2	MCF-7	breast:
37	chr17:17005653..17007729-chr17:17008275..17010821,3	MCF-7	breast:
38	chr17:16978531..16979412-chr17:16990508..16991465,3	MCF-7	breast:
39	chr17:16975220..16977056-chr17:16977821..16980020,2	K562	blood:
40	chr17:16990029..16991902-chr17:16996139..16998027,2	K562	blood:
41	chr17:16985150..16987702-chr17:16991603..16994396,2	MCF-7	breast:
42	chr17:16987319..16988320-chr6:88411053..88412232,3	MCF-7	breast:
43	chr17:16980988..16982735-chr17:16986248..16987825,2	K562	blood:
44	chr17:16981443..16982333-chr17:16990519..16991472,3	MCF-7	breast:
45	chr17:16944526..16947227-chr17:17010435..17013618,3	MCF-7	breast:
46	chr17:17006504..17008901-chr17:17010774..17012390,2	MCF-7	breast:
47	chr17:16980073..16983880-chr17:16986136..16989285,4	MCF-7	breast:
48	chr17:17008907..17011801-chr17:17020811..17022736,2	K562	blood:
49	chr17:16989031..16991528-chr17:17000273..17002775,2	MCF-7	breast:
50	chr17:17005653..17007729-chr17:17008275..17010821,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-4	chr17:16979352-16979712	ENSG00000225442.2
2	lnc-TNFRSF13B-4	chr17:16980370-16981066	ENSG00000225442.2

No data

Variant related genes	Relation type
MPRIP-AS1	TF binding region
MPRIP-AS1	CpG island
ENSG00000170315	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000225442	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000133030	chromatin interactions
ENSG00000135334	chromatin interactions

Extended variants
information (count: 1616 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192247123	chr17:16975105-16975106	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571482518	chr17:16975116-16975117	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs137891369	chr17:16975151-16975152	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546924113	chr17:16975160-16975161	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566747004	chr17:16975208-16975209	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs62064380	chr17:16975246-16975247	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142321207	chr17:16975282-16975283	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555428010	chr17:16975293-16975294	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183406926	chr17:16975368-16975369	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538023242	chr17:16975398-16975399	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567427040	chr17:16975424-16975425	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558183744	chr17:16975428-16975429	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs578167603	chr17:16975444-16975445	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528469878	chr17:16975445-16975446	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540377720	chr17:16975451-16975452	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535247346	chr17:16975485-16975486	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573664168	chr17:16975491-16975492	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542771926	chr17:16975509-16975510	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs562540785	chr17:16975524-16975525	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144911801	chr17:16975570-16975571	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148268635	chr17:16975575-16975576	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565033629	chr17:16975640-16975641	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371472184	chr17:16975751-16975752	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527628786	chr17:16975770-16975771	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547367958	chr17:16975795-16975796	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185786409	chr17:16975805-16975806	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529229880	chr17:16975862-16975863	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116407203	chr17:16975878-16975879	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141282490	chr17:16975879-16975880	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs75026999	chr17:16975927-16975928	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538059768	chr17:16975945-16975946	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs369100113	chr17:16975965-16975966	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62064381	chr17:16975968-16975969	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs558286253	chr17:16975970-16975971	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571746424	chr17:16975994-16975995	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150770050	chr17:16976003-16976004	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551180043	chr17:16976034-16976035	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554146788	chr17:16976122-16976123	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573701193	chr17:16976160-16976161	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542610335	chr17:16976177-16976178	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs76356343	chr17:16976208-16976209	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567781620	chr17:16976217-16976218	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576156590	chr17:16976237-16976238	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373288495	chr17:16976251-16976252	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34200616	chr17:16976265-16976266	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565125661	chr17:16976266-16976267	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs527481642	chr17:16976301-16976302	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs541346828	chr17:16976353-16976354	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs560824787	chr17:16976370-16976371	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529267650	chr17:16976396-16976397	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:2283 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16949000-16975200	Weak transcription	K562	blood
2	chr17:16952600-16996400	Weak transcription	Fetal Brain Male	brain
3	chr17:16954800-16981200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:16955400-16981200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:16959200-16982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:16959600-16979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:16959600-16992000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:16960800-16976400	Weak transcription	Aorta	Aorta
9	chr17:16961600-16977200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:16965000-16975400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr17:16966200-16980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:16966800-16975600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:16967400-16975400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:16968000-16976600	Weak transcription	NHDF-Ad	bronchial
15	chr17:16968000-16977000	Weak transcription	Colon Smooth Muscle	Colon
16	chr17:16968200-16975200	Weak transcription	Fetal Heart	heart
17	chr17:16970000-16981000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:16970800-16976800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:16970800-16977000	Weak transcription	HSMMtube	muscle
20	chr17:16970800-16980400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:16971000-16976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:16971000-16976400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:16971000-16976800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:16971000-16977200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:16971000-16979000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr17:16973000-16981000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:16973000-16981200	Enhancers	Brain Anterior Caudate	brain
28	chr17:16973200-16985000	Genic enhancers	A549	lung
29	chr17:16973400-16981400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:16973600-16975200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr17:16973600-16976200	Enhancers	Small Intestine	intestine
32	chr17:16973600-16979800	Genic enhancers	HSMM	muscle
33	chr17:16973600-16980000	Genic enhancers	HMEC	breast
34	chr17:16973600-16997600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:16973800-16976800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:16973800-16977200	Weak transcription	HUVEC	blood vessel
37	chr17:16973800-16978200	Enhancers	Stomach Mucosa	stomach
38	chr17:16973800-16978200	Weak transcription	GM12878-XiMat	blood
39	chr17:16973800-16982200	Strong transcription	Fetal Brain Female	brain
40	chr17:16974000-16975200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr17:16974000-16975400	Enhancers	Liver	Liver
42	chr17:16974000-16975800	Weak transcription	Primary B cells from cord blood	blood
43	chr17:16974000-16976000	Enhancers	Duodenum Mucosa	Duodenum
44	chr17:16974000-16976200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:16974000-16976200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:16974000-16977200	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr17:16974000-16977200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr17:16974000-16977200	Strong transcription	Fetal Lung	lung
49	chr17:16974000-16995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr17:16974200-16975200	Strong transcription	Fetal Stomach	stomach

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