Variant report

Variant	nsv521075
Chromosome Location	chr17:18220770-18227081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:669)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:669 , 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	BHLHE40	chr17:18223202-18223535	K562	blood:	n/a	n/a
2	BRCA1	chr17:18224349-18224632	HepG2	liver:	n/a	n/a
3	CTCF	chr17:18223221-18223471	NHEK	skin:	n/a	chr17:18223329-18223347
4	CTCF	chr17:18226480-18226630	K562	blood:	n/a	n/a
5	CTCF	chr17:18223380-18223530	WI-38	lung:	n/a	n/a
6	CTCF	chr17:18223300-18223450	HUVEC	blood vessel:	n/a	chr17:18223329-18223347
7	CTCF	chr17:18222760-18222910	GM12875	blood:	n/a	n/a
8	CTCF	chr17:18223280-18223430	HEEpiC	esophagus:	n/a	chr17:18223329-18223347
9	CTCF	chr17:18223246-18223441	HUVEC	blood vessel:	n/a	chr17:18223329-18223347
10	CTCF	chr17:18226500-18226650	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr17:18226520-18226616	HepG2	liver:	n/a	n/a
12	CTCF	chr17:18226460-18226610	K562	blood:	n/a	n/a
13	CTCF	chr17:18223147-18223553	K562	blood:	n/a	chr17:18223329-18223347
14	CTCF	chr17:18223253-18223431	SK-N-SH_RA	brain:	n/a	chr17:18223329-18223347
15	CTCF	chr17:18222700-18222850	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr17:18224620-18224770	HVMF	connective:	n/a	n/a
17	CTCF	chr17:18226496-18226658	GM19240	blood:	n/a	n/a
18	CTCF	chr17:18224819-18224935	GM10266	blood:	n/a	n/a
19	CTCF	chr17:18223260-18223410	GM12878	blood:	n/a	chr17:18223329-18223347
20	CTCF	chr17:18224817-18224886	GM13976	blood:	n/a	n/a
21	CTCF	chr17:18221060-18221127	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:18226700-18226850	GM12872	blood:	n/a	n/a
23	CTCF	chr17:18224700-18224850	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr17:18224740-18224890	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr17:18222900-18223050	NHLF	lung:	n/a	n/a
26	CTCF	chr17:18223260-18223410	HCT-116	colon:	n/a	chr17:18223329-18223347
27	CTCF	chr17:18226500-18226650	HEK293	kidney:	n/a	n/a
28	CTCF	chr17:18226662-18226665	GM19240	blood:	n/a	n/a
29	CTCF	chr17:18224700-18224850	BE2_C	brain:	n/a	n/a
30	CTCF	chr17:18226480-18226630	HRE	kidney:	n/a	n/a
31	CTCF	chr17:18223183-18223468	GM12892	blood:	n/a	chr17:18223329-18223347
32	CTCF	chr17:18226540-18226690	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr17:18226500-18226650	GM12878	blood:	n/a	n/a
34	CTCF	chr17:18226440-18226590	AG04449	skin:	n/a	n/a
35	CTCF	chr17:18224760-18224910	GM12864	blood:	n/a	n/a
36	CTCF	chr17:18223170-18223512	A549	lung:	n/a	chr17:18223329-18223347
37	CTCF	chr17:18223520-18223670	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr17:18223280-18223430	AG09319	gingival:	n/a	chr17:18223329-18223347
39	CTCF	chr17:18223240-18223442	Gliobla	brain:	n/a	chr17:18223329-18223347
40	CTCF	chr17:18226483-18226655	MCF-7	breast:	n/a	n/a
41	CTCF	chr17:18224780-18224930	GM12869	blood:	n/a	n/a
42	CTCF	chr17:18223320-18223470	HFF-Myc	foreskin:	n/a	chr17:18223329-18223347
43	CTCF	chr17:18223122-18223468	HepG2	liver:	n/a	chr17:18223329-18223347
44	CTCF	chr17:18226440-18226590	HepG2	liver:	n/a	n/a
45	CTCF	chr17:18226400-18226550	GM12878	blood:	n/a	n/a
46	CTCF	chr17:18224740-18224890	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr17:18223540-18223690	GM12864	blood:	n/a	n/a
48	CTCF	chr17:18223209-18223465	MCF-7	breast:	n/a	chr17:18223329-18223347
49	CTCF	chr17:18223480-18223630	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr17:18223200-18223350	Caco-2	colon:	n/a	chr17:18223329-18223347

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18223010-18223060	T-47D	breast:	n/a
2	chr17:18226511-18226561	HCPEpiC	choroid plexus:	n/a
3	chr17:18223010-18223060	PFSK-1	brain:	n/a
4	chr17:18226511-18226561	HEK293	kidney:	embryo
5	chr17:18226511-18226561	ovcar-3	ovarian:	n/a
6	chr17:18223010-18223060	SKMC	muscle:	n/a
7	chr17:18223010-18223060	NT2-D1	testis:	n/a
8	chr17:18223010-18223060	AG10803	skin:	n/a
9	chr17:18223010-18223060	HCF	heart:	n/a
10	chr17:18226511-18226561	HRCEpiC	kidney:	n/a
11	chr17:18223010-18223060	ProgFib	skin:	n/a
12	chr17:18226511-18226561	GM19239	blood:	n/a
13	chr17:18226511-18226561	ProgFib	skin:	n/a
14	chr17:18226511-18226561	A549	lung:	n/a
15	chr17:18226511-18226561	ECC-1	luminal epithelium:	n/a
16	chr17:18223010-18223060	SK-N-SH	brain:	n/a
17	chr17:18223010-18223060	Hepatocyte	liver:	n/a
18	chr17:18223010-18223060	AoSMC	blood vessel:	n/a
19	chr17:18226511-18226561	AoSMC	blood vessel:	n/a
20	chr17:18226511-18226561	HIPEpiC	eye:	n/a
21	chr17:18223010-18223060	HEK293	kidney:	embryo
22	chr17:18223010-18223060	BE2_C	brain:	n/a
23	chr17:18223010-18223060	CMK	blood:	n/a
24	chr17:18223010-18223060	HPAEpiC	pulmonary alveolar:	n/a
25	chr17:18223010-18223060	HUVEC	blood vessel:	n/a
26	chr17:18226511-18226561	HEEpiC	esophagus:	n/a
27	chr17:18226511-18226561	GM12892	blood:	n/a
28	chr17:18223010-18223060	PrEC	prostate:	n/a
29	chr17:18226511-18226561	NH-A	brain:	n/a
30	chr17:18223010-18223060	K562	blood:	n/a
31	chr17:18226511-18226561	HPAEpiC	pulmonary alveolar:	n/a
32	chr17:18226511-18226561	AG10803	skin:	n/a
33	chr17:18226511-18226561	HepG2	liver:	n/a
34	chr17:18226511-18226561	LNCaP	prostate:	n/a
35	chr17:18226511-18226561	AG09319	gingival:	n/a
36	chr17:18223010-18223060	HCM	heart:	n/a
37	chr17:18226511-18226561	T-47D	breast:	n/a
38	chr17:18226511-18226561	HRE	kidney:	n/a
39	chr17:18226511-18226561	PrEC	prostate:	n/a
40	chr17:18226511-18226561	SK-N-MC	brain:	n/a
41	chr17:18226511-18226561	HRPEpiC	eye:	n/a
42	chr17:18226511-18226561	BE2_C	brain:	n/a
43	chr17:18223010-18223060	SK-N-MC	brain:	n/a
44	chr17:18223010-18223060	AG04450	lung:	fetal
45	chr17:18226511-18226561	PFSK-1	brain:	n/a
46	chr17:18226511-18226561	HL-60	blood:	n/a
47	chr17:18226511-18226561	RPTEC	kidney:	n/a
48	chr17:18223010-18223060	HCPEpiC	choroid plexus:	n/a
49	chr17:18223010-18223060	HMEC	breast:	n/a
50	chr17:18223010-18223060	H1-hESC	embryonic stem cell:	embryo

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18222850..18223360-chr17:18466465..18467335,2	MCF-7	breast:
2	chr17:18151039..18153788-chr17:18220969..18222731,2	MCF-7	breast:
3	chr17:18086084..18087983-chr17:18217517..18220819,3	MCF-7	breast:
4	chr17:18224131..18225984-chr17:18227061..18229677,2	K562	blood:
5	chr17:18142816..18144469-chr17:18222241..18223904,2	K562	blood:
6	chr17:18223830..18226136-chr17:18229956..18231632,3	MCF-7	breast:
7	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
8	chr17:18218839..18221214-chr17:18276166..18278374,2	MCF-7	breast:
9	chr17:18118058..18120854-chr17:18219963..18222284,2	K562	blood:
10	chr17:18163811..18165499-chr17:18223440..18225988,3	MCF-7	breast:
11	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
12	chr17:18224827..18226997-chr17:18265358..18268214,2	MCF-7	breast:
13	chr17:18138823..18141039-chr17:18218928..18220976,2	MCF-7	breast:
14	chr17:18209725..18212720-chr17:18219456..18221596,2	MCF-7	breast:
15	chr17:18042115..18044970-chr17:18226720..18228381,2	MCF-7	breast:
16	chr17:18160479..18164858-chr17:18221003..18224877,4	MCF-7	breast:
17	chr17:18222298..18225183-chr17:18254419..18256749,2	MCF-7	breast:
18	chr17:18158849..18161472-chr17:18226331..18228845,2	MCF-7	breast:
19	chr17:18151307..18151973-chr17:18224321..18225020,2	MCF-7	breast:
20	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:

No data

Variant related genes	Relation type
TOP3A	TF binding region
ENSG00000267350	TF binding region
TOP3A	CpG island
ENSG00000267350	CpG island
ENSG00000266677	chromatin interactions
ENSG00000176994	chromatin interactions
ENSG00000091536	chromatin interactions
ENSG00000176974	chromatin interactions
ENSG00000177427	chromatin interactions
ENSG00000177302	chromatin interactions
ENSG00000267350	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000091542	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 163 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1563632	chr17:18220770-18220771	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147308062	chr17:18220774-18220775	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs200520378	chr17:18220790-18220791	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs375687854	chr17:18220799-18220800	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs368181632	chr17:18220806-18220807	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs551511323	chr17:18220814-18220815	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs148763931	chr17:18220817-18220818	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs371767466	chr17:18220854-18220855	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs376015852	chr17:18220855-18220856	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs142387280	chr17:18220859-18220860	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs369091020	chr17:18220864-18220865	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs148166987	chr17:18220876-18220877	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs73291850	chr17:18220880-18220881	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371735774	chr17:18220881-18220882	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs201290800	chr17:18220889-18220890	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs555908905	chr17:18220899-18220900	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs370958431	chr17:18220905-18220906	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs576053820	chr17:18220925-18220926	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs373948273	chr17:18220950-18220951	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs558286523	chr17:18220954-18220955	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs375565691	chr17:18220983-18220984	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs144205352	chr17:18220987-18220988	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs12449313	chr17:18221010-18221011	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs570927170	chr17:18221019-18221020	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs140450746	chr17:18221021-18221022	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs369818386	chr17:18221022-18221023	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs200406677	chr17:18221040-18221041	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs181277713	chr17:18221048-18221049	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs144142852	chr17:18221062-18221063	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs145017487	chr17:18221064-18221065	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs149091536	chr17:18221103-18221104	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs143114102	chr17:18221117-18221118	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs370340912	chr17:18221127-18221128	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs372390030	chr17:18221132-18221133	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs148223013	chr17:18221133-18221134	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs1563631	chr17:18221134-18221135	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs115902910	chr17:18221142-18221143	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs552639030	chr17:18221144-18221145	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs565417602	chr17:18221147-18221148	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs527466079	chr17:18221149-18221150	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs199521653	chr17:18221159-18221160	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs202018847	chr17:18221168-18221169	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs536156720	chr17:18221170-18221171	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs118086447	chr17:18221173-18221174	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs137890085	chr17:18221201-18221202	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs144125174	chr17:18221231-18221232	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs200558582	chr17:18221250-18221251	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs368001739	chr17:18221257-18221258	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs150697907	chr17:18221284-18221285	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs538677685	chr17:18221317-18221318	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:163)

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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18218600-18221200	ZNF genes & repeats	Fetal Intestine Large	intestine
2	chr17:18218600-18221600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr17:18218800-18222200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr17:18219000-18221800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr17:18219400-18220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr17:18219400-18220800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:18219400-18221800	Enhancers	Small Intestine	intestine
8	chr17:18219400-18224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:18219400-18224200	Enhancers	Fetal Brain Male	brain
10	chr17:18219400-18224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:18219400-18224800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:18219600-18220800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:18219600-18220800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:18219600-18220800	Genic enhancers	Adipose Nuclei	Adipose
17	chr17:18219600-18220800	Weak transcription	Aorta	Aorta
18	chr17:18219600-18220800	Enhancers	Pancreas	Pancrea
19	chr17:18219600-18221000	Genic enhancers	Brain Inferior Temporal Lobe	brain
20	chr17:18219600-18221600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:18219600-18221800	Genic enhancers	Thymus	Thymus
22	chr17:18219600-18222200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr17:18219600-18222400	Genic enhancers	Fetal Thymus	thymus
24	chr17:18219600-18222400	Genic enhancers	HMEC	breast
25	chr17:18219600-18223600	Genic enhancers	Fetal Lung	lung
26	chr17:18219600-18223600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr17:18219600-18223600	Genic enhancers	Fetal Stomach	stomach
28	chr17:18219600-18223800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:18219600-18224200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:18219600-18224200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:18219600-18224200	Genic enhancers	Liver	Liver
32	chr17:18219600-18224200	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr17:18219600-18224200	Genic enhancers	Left Ventricle	heart
34	chr17:18219600-18224400	Genic enhancers	Placenta	Placenta
35	chr17:18219600-18224600	Enhancers	Right Atrium	heart
36	chr17:18219600-18224800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr17:18219600-18225000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr17:18219600-18226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:18219800-18220800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr17:18219800-18220800	Genic enhancers	Primary B cells from cord blood	blood
41	chr17:18219800-18220800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:18219800-18220800	Weak transcription	HSMMtube	muscle
43	chr17:18219800-18220800	Strong transcription	NH-A	brain
44	chr17:18219800-18221000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr17:18219800-18221000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr17:18219800-18221000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:18219800-18221000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:18219800-18221000	Genic enhancers	Brain Germinal Matrix	brain
49	chr17:18219800-18221000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:18219800-18221000	Enhancers	Pancreatic Islets	Pancreatic Islet

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