Variant report

Variant	nsv526904
Chromosome Location	chr17:17696755-17715101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:774)
CpG islands
(count:1773)
Chromatin interactive
region (count:49)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:17713336-17713849	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr17:17712397-17712864	GM12878	blood:	n/a	n/a
3	ATF2	chr17:17713279-17714123	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr17:17715011-17715951	A549	lung:	n/a	n/a
5	BACH1	chr17:17713334-17713821	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr17:17712516-17712604	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr17:17710771-17711643	A549	lung:	n/a	n/a
8	BCL3	chr17:17710579-17711697	A549	lung:	n/a	n/a
9	BCL3	chr17:17713963-17714299	K562	blood:	n/a	n/a
10	BCL3	chr17:17713597-17716148	K562	blood:	n/a	n/a
11	BCL3	chr17:17713153-17716085	A549	lung:	n/a	n/a
12	BCL3	chr17:17714751-17716841	A549	lung:	n/a	n/a
13	BCL3	chr17:17711914-17712541	A549	lung:	n/a	n/a
14	BCL3	chr17:17713094-17714577	A549	lung:	n/a	n/a
15	BCL3	chr17:17711874-17712690	A549	lung:	n/a	n/a
16	BHLHE40	chr17:17712490-17712798	GM12878	blood:	n/a	n/a
17	BRCA1	chr17:17713360-17713571	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr17:17713378-17714521	K562	blood:	n/a	n/a
19	CEBPB	chr17:17713394-17713557	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr17:17713112-17713156	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr17:17714552-17714778	IMR90	lung:	n/a	n/a
22	CHD2	chr17:17709376-17709486	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr17:17714865-17715303	K562	blood:	n/a	n/a
24	CHD2	chr17:17713890-17714092	K562	blood:	n/a	n/a
25	CHD2	chr17:17712557-17712657	GM12878	blood:	n/a	n/a
26	CHD2	chr17:17713328-17713656	K562	blood:	n/a	n/a
27	CHD2	chr17:17713335-17713776	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr17:17714968-17715398	A549	lung:	n/a	n/a
29	CREB1	chr17:17713257-17713605	A549	lung:	n/a	n/a
30	CTBP2	chr17:17713293-17713786	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr17:17714120-17714270	HCT-116	colon:	n/a	n/a
32	CTCF	chr17:17704096-17704160	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:17703180-17703330	GM12869	blood:	n/a	n/a
34	CTCF	chr17:17714064-17714221	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr17:17712500-17712650	GM12871	blood:	n/a	n/a
36	CTCF	chr17:17713760-17713910	HRE	kidney:	n/a	n/a
37	CTCF	chr17:17703140-17703290	GM12874	blood:	n/a	n/a
38	CTCF	chr17:17703158-17703300	A549	lung:	n/a	n/a
39	CTCF	chr17:17712638-17712665	GM19238	blood:	n/a	n/a
40	CTCF	chr17:17714060-17714210	BJ	skin:	n/a	n/a
41	CTCF	chr17:17704020-17704235	HepG2	liver:	n/a	n/a
42	CTCF	chr17:17703173-17703380	MCF-7	breast:	n/a	n/a
43	CTCF	chr17:17704119-17704203	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr17:17703140-17703290	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr17:17703160-17703310	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr17:17703080-17703230	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr17:17703170-17703348	GM12892	blood:	n/a	n/a
48	CTCF	chr17:17704084-17704198	K562	blood:	n/a	n/a
49	CTCF	chr17:17714040-17714190	HEK293	kidney:	n/a	n/a
50	CTCF	chr17:17703160-17703310	GM06990	blood:	n/a	n/a

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17702181-17702231	NT2-D1	testis:	n/a
2	chr17:17699213-17699263	NT2-D1	testis:	n/a
3	chr17:17704646-17704696	Caco-2	colon:	n/a
4	chr17:17701197-17701247	HRCEpiC	kidney:	n/a
5	chr17:17702181-17702231	NT2-D1	testis:	n/a
6	chr17:17699213-17699263	NT2-D1	testis:	n/a
7	chr17:17704646-17704696	Caco-2	colon:	n/a
8	chr17:17701197-17701247	HRCEpiC	kidney:	n/a
9	chr17:17713061-17713111	GM12878	blood:	n/a
10	chr17:17702181-17702231	GM06990	blood:	n/a
11	chr17:17714414-17714464	GM19239	blood:	n/a
12	chr17:17697738-17697788	HCT-116	colon:	n/a
13	chr17:17699213-17699263	NHDF-neo	bronchial:	n/a
14	chr17:17701015-17701065	HCF	heart:	n/a
15	chr17:17700943-17700993	HCT-116	colon:	n/a
16	chr17:17700156-17700206	PFSK-1	brain:	n/a
17	chr17:17700943-17700993	MCF-7	breast:	n/a
18	chr17:17700871-17700921	IMR90	lung:	fetal
19	chr17:17702181-17702231	AoSMC	blood vessel:	n/a
20	chr17:17697732-17697782	Hela-S3	cervix:	n/a
21	chr17:17714293-17714343	K562	blood:	n/a
22	chr17:17713886-17713936	SKMC	muscle:	n/a
23	chr17:17700871-17700921	LNCaP	prostate:	n/a
24	chr17:17712609-17712659	ovcar-3	ovarian:	n/a
25	chr17:17709284-17709334	BJ	skin:	n/a
26	chr17:17698768-17698818	Hepatocyte	liver:	n/a
27	chr17:17714293-17714343	AG10803	skin:	n/a
28	chr17:17701697-17701747	BE2_C	brain:	n/a
29	chr17:17701197-17701247	GM06990	blood:	n/a
30	chr17:17701197-17701247	HRE	kidney:	n/a
31	chr17:17713067-17713117	HMEC	breast:	n/a
32	chr17:17699911-17699961	Hepatocyte	liver:	n/a
33	chr17:17714293-17714343	MCF10A-Er-Src	breast:	n/a
34	chr17:17713671-17713721	HRPEpiC	eye:	n/a
35	chr17:17699911-17699961	HEK293	kidney:	embryo
36	chr17:17699461-17699511	AG09319	gingival:	n/a
37	chr17:17709007-17709057	A549	lung:	n/a
38	chr17:17702181-17702231	SK-N-MC	brain:	n/a
39	chr17:17699911-17699961	MCF-7	breast:	n/a
40	chr17:17713671-17713721	GM12891	blood:	n/a
41	chr17:17713067-17713117	PrEC	prostate:	n/a
42	chr17:17700156-17700206	ECC-1	luminal epithelium:	n/a
43	chr17:17714414-17714464	MCF-7	breast:	n/a
44	chr17:17709284-17709334	HCF	heart:	n/a
45	chr17:17700871-17700921	HMEC	breast:	n/a
46	chr17:17700156-17700206	MCF10A-Er-Src	breast:	n/a
47	chr17:17699461-17699511	NHDF-neo	bronchial:	n/a
48	chr17:17713067-17713117	Hela-S3	cervix:	n/a
49	chr17:17709007-17709057	HRCEpiC	kidney:	n/a
50	chr17:17700156-17700206	SKMC	muscle:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17634554..17636650-chr17:17709495..17711657,2	MCF-7	breast:
2	chr17:17596211..17599216-chr17:17709321..17712358,3	MCF-7	breast:
3	chr17:17705105..17706847-chr17:17708725..17710428,2	MCF-7	breast:
4	chr17:17583640..17587401-chr17:17713270..17717474,6	MCF-7	breast:
5	chr17:17702735..17704555-chr17:17706937..17709032,2	MCF-7	breast:
6	chr17:17585146..17587854-chr17:17712160..17713787,2	K562	blood:
7	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:
8	chr17:17584846..17587033-chr17:17696013..17697749,2	MCF-7	breast:
9	chr17:17704530..17707399-chr17:17716013..17718909,2	K562	blood:
10	chr17:17633121..17633673-chr17:17702761..17703742,3	MCF-7	breast:
11	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
12	chr17:17585064..17587457-chr17:17712160..17714917,4	K562	blood:
13	chr17:17582010..17583856-chr17:17705972..17708012,2	K562	blood:
14	chr17:17686748..17688338-chr17:17699379..17701394,2	MCF-7	breast:
15	chr17:17713571..17716045-chr17:17763019..17766158,3	K562	blood:
16	chr17:17595705..17598118-chr17:17712618..17714167,2	MCF-7	breast:
17	chr17:17582010..17584605-chr17:17704588..17707472,2	K562	blood:
18	chr17:17685362..17690405-chr17:17711256..17718354,8	MCF-7	breast:
19	chr17:17696023..17699277-chr17:17700100..17704638,4	K562	blood:
20	chr17:17709472..17711211-chr17:17713888..17716285,2	MCF-7	breast:
21	chr17:17691850..17694217-chr17:17705682..17708112,3	MCF-7	breast:
22	chr17:17693638..17695676-chr17:17707217..17709070,2	K562	blood:
23	chr17:17708923..17710645-chr17:17720031..17722471,2	K562	blood:
24	chr17:17705105..17706847-chr17:17708725..17710428,2	MCF-7	breast:
25	chr17:17588552..17591494-chr17:17713453..17715244,2	MCF-7	breast:
26	chr17:17715002..17715792-chr17:17763094..17764226,6	MCF-7	breast:
27	chr17:17699415..17703726-chr17:17706608..17710254,4	K562	blood:
28	chr17:17683398..17686891-chr17:17713626..17715555,3	K562	blood:
29	chr17:17707124..17708984-chr17:17739423..17741026,2	K562	blood:
30	chr17:17586455..17590031-chr17:17707371..17710346,3	MCF-7	breast:
31	chr17:17686873..17689808-chr17:17705092..17707202,2	MCF-7	breast:
32	chr17:17709472..17711211-chr17:17713888..17716285,2	MCF-7	breast:
33	chr17:17702786..17705545-chr17:17709001..17711709,2	K562	blood:
34	chr17:17585754..17588420-chr17:17698731..17700314,2	MCF-7	breast:
35	chr17:17694086..17695955-chr17:17698862..17701627,2	K562	blood:
36	chr17:17700084..17702891-chr17:17740296..17741974,2	MCF-7	breast:
37	chr17:17685392..17687636-chr17:17695212..17698181,2	MCF-7	breast:
38	chr17:17694463..17696296-chr17:17712959..17714738,2	MCF-7	breast:
39	chr17:17695508..17697498-chr17:17739831..17741421,2	K562	blood:
40	chr17:17702735..17704555-chr17:17706937..17709032,2	MCF-7	breast:
41	chr17:17706399..17710687-chr17:17711145..17715909,7	K562	blood:
42	chr17:17693891..17695955-chr17:17698276..17701627,3	K562	blood:
43	chr17:17694613..17696155-chr17:17697570..17699301,2	MCF-7	breast:
44	chr17:17696023..17699277-chr17:17700100..17704638,4	K562	blood:
45	chr17:17578367..17581846-chr17:17711367..17714822,4	MCF-7	breast:
46	chr17:17696658..17699580-chr17:17711983..17715186,3	K562	blood:
47	chr17:17702786..17705545-chr17:17709001..17711709,2	K562	blood:
48	chr17:17693130..17695676-chr17:17706574..17708717,2	K562	blood:
49	chr17:17655283..17657640-chr17:17714232..17716062,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMCR5-3	chr17:17714665-17715370	NONHSAT146109
2	lnc-SMCR5-3	chr17:17714665-17715098	NONHSAT146108
3	lnc-LRRC48-2	chr17:17712596-17712753	NONHSAT146107
4	lnc-LRRC48-2	chr17:17713284-17714003	NONHSAT146107

No data

Variant related genes	Relation type
RAI1	TF binding region
RAI1	CpG island
ENSG00000175662	chromatin interactions
ENSG00000108557	chromatin interactions
ENSG00000207839	chromatin interactions
ENSG00000223979	chromatin interactions
ENSG00000072310	chromatin interactions

Extended variants
information (count: 914 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11649804	chr17:17696755-17696756	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143161740	chr17:17696776-17696777	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147481626	chr17:17696778-17696779	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573327073	chr17:17696779-17696780	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148993070	chr17:17696793-17696794	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561440366	chr17:17696796-17696797	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530568134	chr17:17696799-17696800	Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs560444397	chr17:17696860-17696861	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550268051	chr17:17696868-17696869	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs138332224	chr17:17696872-17696873	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143810054	chr17:17696907-17696908	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144217984	chr17:17696910-17696911	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148485224	chr17:17696916-17696917	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532780553	chr17:17696928-17696929	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546550691	chr17:17696950-17696951	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34551516	chr17:17696962-17696963	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs142646842	chr17:17696981-17696982	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566787943	chr17:17696986-17696987	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150563155	chr17:17696987-17696988	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549200619	chr17:17696988-17696989	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568562677	chr17:17697021-17697022	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377028008	chr17:17697029-17697030	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537495438	chr17:17697039-17697040	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139917363	chr17:17697048-17697049	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557499896	chr17:17697075-17697076	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570822773	chr17:17697078-17697079	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143311634	chr17:17697088-17697089	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146690371	chr17:17697089-17697090	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140274272	chr17:17697092-17697093	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs398124420	chr17:17697094-17697095	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113303801	chr17:17697095-17697096	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571229335	chr17:17697096-17697097	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149882795	chr17:17697098-17697099	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35068024	chr17:17697099-17697100	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144872134	chr17:17697100-17697101	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs398124421	chr17:17697102-17697103	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs398124422	chr17:17697114-17697115	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372058626	chr17:17697130-17697131	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141736318	chr17:17697134-17697135	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147070109	chr17:17697135-17697136	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138408718	chr17:17697136-17697137	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141873298	chr17:17697137-17697138	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs375881098	chr17:17697148-17697149	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs201729595	chr17:17697149-17697150	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542056789	chr17:17697187-17697188	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368859160	chr17:17697192-17697193	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373988626	chr17:17697204-17697205	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138675466	chr17:17697234-17697235	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575445139	chr17:17697238-17697239	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543870015	chr17:17697244-17697245	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 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
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17688000-17697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:17688000-17715000	Weak transcription	Small Intestine	intestine
3	chr17:17688200-17697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:17688600-17714200	Weak transcription	NHDF-Ad	bronchial
5	chr17:17690000-17696800	Weak transcription	NHEK	skin
6	chr17:17690000-17697200	Weak transcription	HMEC	breast
7	chr17:17690000-17707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:17690000-17711200	Weak transcription	Hela-S3	cervix
9	chr17:17691000-17697200	Enhancers	Fetal Brain Male	brain
10	chr17:17692200-17697200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:17692400-17697000	Genic enhancers	Fetal Stomach	stomach
12	chr17:17692400-17697400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17692600-17697400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr17:17692800-17696800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:17692800-17697200	Enhancers	Left Ventricle	heart
16	chr17:17692800-17697400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr17:17692800-17697400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr17:17693000-17696800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr17:17693000-17697000	Enhancers	Brain Hippocampus Middle	brain
20	chr17:17693000-17697000	Enhancers	Brain Substantia Nigra	brain
21	chr17:17693400-17697600	Enhancers	Rectal Smooth Muscle	rectum
22	chr17:17693600-17697400	Weak transcription	HepG2	liver
23	chr17:17693800-17697400	Weak transcription	Liver	Liver
24	chr17:17694200-17697400	Enhancers	Right Atrium	heart
25	chr17:17694400-17696800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:17694400-17697000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr17:17694800-17697000	Genic enhancers	Fetal Intestine Small	intestine
28	chr17:17694800-17697200	Enhancers	Primary hematopoietic stem cells	blood
29	chr17:17694800-17697200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:17694800-17697200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr17:17695000-17696800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:17695000-17696800	Enhancers	Ovary	ovary
33	chr17:17695000-17696800	Enhancers	Psoas Muscle	Psoas
34	chr17:17695000-17697000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr17:17695000-17697200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr17:17695000-17697400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr17:17695000-17702400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:17695200-17696800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:17695200-17696800	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr17:17695200-17697200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:17695200-17697600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr17:17695400-17696800	Enhancers	HSMM	muscle
43	chr17:17695400-17696800	Enhancers	HSMMtube	muscle
44	chr17:17695400-17697000	Enhancers	NH-A	brain
45	chr17:17695400-17697200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:17695400-17699000	Genic enhancers	Spleen	Spleen
47	chr17:17695400-17723800	Strong transcription	Dnd41	blood
48	chr17:17695600-17696800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:17695600-17696800	Enhancers	HUVEC	blood vessel
50	chr17:17695600-17697000	Enhancers	Placenta	Placenta

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