Variant report

Variant	nsv9562
Chromosome Location	chr17:43508843-43534167
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	ATF1	chr17:43523428-43523777	K562	blood:	n/a	n/a
2	ATF2	chr17:43517859-43518570	GM12878	blood:	n/a	n/a
3	BACH1	chr17:43523387-43523400	K562	blood:	n/a	n/a
4	BATF	chr17:43523295-43523558	GM12878	blood:	n/a	chr17:43523444-43523454 chr17:43523443-43523454
5	BCL11A	chr17:43518210-43518496	GM12878	blood:	n/a	chr17:43518363-43518376
6	BCL11A	chr17:43518128-43518564	GM12878	blood:	n/a	chr17:43518363-43518376
7	BCL3	chr17:43508827-43509340	A549	lung:	n/a	n/a
8	BCLAF1	chr17:43518050-43518628	GM12878	blood:	n/a	chr17:43518363-43518376
9	BHLHE40	chr17:43508791-43508854	GM12878	blood:	n/a	n/a
10	BHLHE40	chr17:43509109-43509121	K562	blood:	n/a	n/a
11	BHLHE40	chr17:43509443-43509511	K562	blood:	n/a	n/a
12	BHLHE40	chr17:43518273-43518483	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:43509085-43509248	GM12878	blood:	n/a	n/a
14	CBX3	chr17:43523264-43523965	K562	blood:	n/a	n/a
15	CCNT2	chr17:43509012-43509212	K562	blood:	n/a	n/a
16	CEBPB	chr17:43517763-43517933	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr17:43518009-43518664	GM12878	blood:	n/a	n/a
18	CEBPB	chr17:43525149-43525254	A549	lung:	n/a	n/a
19	CEBPD	chr17:43509033-43509257	HepG2	liver:	n/a	n/a
20	CHD1	chr17:43518251-43518460	GM12878	blood:	n/a	chr17:43518366-43518376
21	CHD2	chr17:43509521-43509556	GM12878	blood:	n/a	n/a
22	CHD2	chr17:43509143-43509268	GM12878	blood:	n/a	chr17:43509194-43509204
23	CHD2	chr17:43508577-43508916	GM12878	blood:	n/a	n/a
24	CREB1	chr17:43508782-43509221	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:43528580-43528730	HRE	kidney:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
26	CTCF	chr17:43531140-43531290	GM12867	blood:	n/a	n/a
27	CTCF	chr17:43516500-43516650	MCF-7	breast:	n/a	chr17:43516541-43516554
28	CTCF	chr17:43528540-43528690	Caco-2	colon:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
29	CTCF	chr17:43531160-43531310	HEK293	kidney:	n/a	n/a
30	CTCF	chr17:43531116-43531379	K562	blood:	n/a	n/a
31	CTCF	chr17:43528533-43528746	GM12891	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
32	CTCF	chr17:43528502-43528664	GM10248	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
33	CTCF	chr17:43516380-43516530	GM12873	blood:	n/a	chr17:43516453-43516462 chr17:43516453-43516466
34	CTCF	chr17:43528560-43528710	Caco-2	colon:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
35	CTCF	chr17:43531160-43531310	GM06990	blood:	n/a	n/a
36	CTCF	chr17:43528495-43528744	GM12878	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
37	CTCF	chr17:43531200-43531350	GM12865	blood:	n/a	n/a
38	CTCF	chr17:43528552-43528732	GM19239	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
39	CTCF	chr17:43528540-43528690	HUVEC	blood vessel:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
40	CTCF	chr17:43528600-43528750	GM12864	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
41	CTCF	chr17:43528560-43528710	GM12870	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
42	CTCF	chr17:43516395-43516546	NHEK	skin:	n/a	chr17:43516453-43516462 chr17:43516453-43516466
43	CTCF	chr17:43531940-43531984	GM13976	blood:	n/a	n/a
44	CTCF	chr17:43528575-43528729	HUVEC	blood vessel:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
45	CTCF	chr17:43516373-43516539	MCF-7	breast:	n/a	chr17:43516453-43516462 chr17:43516453-43516466
46	CTCF	chr17:43509060-43509210	HepG2	liver:	n/a	n/a
47	CTCF	chr17:43531240-43531390	GM12864	blood:	n/a	n/a
48	CTCF	chr17:43531160-43531310	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr17:43528520-43528670	AG09309	skin:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654
50	CTCF	chr17:43528540-43528690	GM12871	blood:	n/a	chr17:43528639-43528648 chr17:43528639-43528652 chr17:43528638-43528659 chr17:43528636-43528654

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43509267-43509317	SAEC	small airway:	n/a
2	chr17:43510478-43510528	SK-N-SH	brain:	n/a
3	chr17:43509267-43509317	HUVEC	blood vessel:	n/a
4	chr17:43510478-43510528	RPTEC	kidney:	n/a
5	chr17:43510205-43510255	LNCaP	prostate:	n/a
6	chr17:43515205-43515255	HRCEpiC	kidney:	n/a
7	chr17:43510575-43510625	IMR90	lung:	fetal
8	chr17:43510575-43510625	PFSK-1	brain:	n/a
9	chr17:43515205-43515255	Hela-S3	cervix:	n/a
10	chr17:43513713-43513763	Caco-2	colon:	n/a
11	chr17:43511301-43511351	ECC-1	luminal epithelium:	n/a
12	chr17:43510205-43510255	HNPCEpiC	eye:	n/a
13	chr17:43531476-43531526	AG10803	skin:	n/a
14	chr17:43509479-43509529	ovcar-3	ovarian:	n/a
15	chr17:43515205-43515255	HRPEpiC	eye:	n/a
16	chr17:43510575-43510625	HEK293	kidney:	embryo
17	chr17:43513713-43513763	BJ	skin:	n/a
18	chr17:43515205-43515255	HCPEpiC	choroid plexus:	n/a
19	chr17:43513713-43513763	HPAEpiC	pulmonary alveolar:	n/a
20	chr17:43510841-43510891	NHBE	bronchial:	n/a
21	chr17:43510841-43510891	HCPEpiC	choroid plexus:	n/a
22	chr17:43515229-43515279	T-47D	breast:	n/a
23	chr17:43510841-43510891	HCT-116	colon:	n/a
24	chr17:43509479-43509529	HUVEC	blood vessel:	n/a
25	chr17:43513713-43513763	HEK293	kidney:	embryo
26	chr17:43531077-43531127	HCM	heart:	n/a
27	chr17:43509479-43509529	U87	brain:	n/a
28	chr17:43510841-43510891	AG09309	skin:	n/a
29	chr17:43511301-43511351	CMK	blood:	n/a
30	chr17:43510841-43510891	PFSK-1	brain:	n/a
31	chr17:43510841-43510891	HIPEpiC	eye:	n/a
32	chr17:43511301-43511351	SAEC	small airway:	n/a
33	chr17:43511301-43511351	SKMC	muscle:	n/a
34	chr17:43509267-43509317	HRCEpiC	kidney:	n/a
35	chr17:43509267-43509317	SK-N-MC	brain:	n/a
36	chr17:43531077-43531127	HRE	kidney:	n/a
37	chr17:43510575-43510625	H1-hESC	embryonic stem cell:	embryo
38	chr17:43511301-43511351	NT2-D1	testis:	n/a
39	chr17:43510214-43510264	K562	blood:	n/a
40	chr17:43509479-43509529	SKMC	muscle:	n/a
41	chr17:43510478-43510528	SK-N-SH_RA	brain:	n/a
42	chr17:43511301-43511351	HCF	heart:	n/a
43	chr17:43513713-43513763	SKMC	muscle:	n/a
44	chr17:43510478-43510528	A549	lung:	n/a
45	chr17:43510214-43510264	HNPCEpiC	eye:	n/a
46	chr17:43510841-43510891	NHDF-neo	bronchial:	n/a
47	chr17:43510841-43510891	HRPEpiC	eye:	n/a
48	chr17:43531077-43531127	NHBE	bronchial:	n/a
49	chr17:43513713-43513763	IMR90	lung:	fetal
50	chr17:43531476-43531526	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:43513035..43516547-chr17:43517683..43521433,4	K562	blood:
2	chr17:43507001..43509385-chr17:43510815..43513693,2	K562	blood:
3	chr17:43506157..43512040-chr17:43512446..43519071,9	MCF-7	breast:
4	chr17:43501715..43503974-chr17:43507657..43510348,3	MCF-7	breast:
5	chr17:43508394..43510622-chr17:43970082..43971846,2	MCF-7	breast:
6	chr17:43501401..43503182-chr17:43508338..43510884,3	MCF-7	breast:
7	chr17:43509290..43512698-chr17:43514258..43516923,3	MCF-7	breast:
8	chr17:43516354..43516858-chr17:62782249..62783079,2	MCF-7	breast:
9	chr17:43507648..43509676-chr17:43511432..43515176,4	K562	blood:
10	chr17:43512172..43514252-chr17:43516242..43518209,2	MCF-7	breast:
11	chr17:43506157..43512040-chr17:43512446..43519071,9	MCF-7	breast:
12	chr17:43507001..43509385-chr17:43510815..43513693,2	K562	blood:
13	chr17:43491389..43493065-chr17:43507690..43509408,2	MCF-7	breast:
14	chr17:43392748..43395786-chr17:43508112..43511111,3	MCF-7	breast:
15	chr17:43502872..43504626-chr17:43513252..43516199,2	MCF-7	breast:
16	chr17:43209603..43212111-chr17:43507781..43510715,2	MCF-7	breast:
17	chr17:43485959..43488824-chr17:43511157..43513900,2	K562	blood:
18	chr14:103799418..103801193-chr17:43513661..43515209,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091132.1-1	chr17:43530210-43530454	ENSG00000236234.1
2	lnc-AC091132.1-1	chr17:43533636-43533751	ENSG00000236234.1
3	lnc-AC091132.1-1	chr17:43532164-43532263	ENSG00000236234.1
4	lnc-ARHGAP27-2	chr17:43526880-43527547	NONHSAT054120
5	lnc-ARHGAP27-2	chr17:43526564-43526695	NONHSAT054120

Variant related genes	Relation type
PLEKHM1	TF binding region
ARHGAP27	TF binding region
ENSG00000236234	TF binding region
PLEKHM1	CpG island
ARHGAP27	CpG island
ENSG00000236234	CpG island
ENSG00000100664	chromatin interactions
ENSG00000161714	chromatin interactions
ENSG00000181513	chromatin interactions
ENSG00000186868	chromatin interactions
ENSG00000006062	chromatin interactions
ENSG00000159314	chromatin interactions
ENSG00000225190	chromatin interactions

Extended variants
information (count: 913 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:913 , 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	rs377644928	chr17:43508904-43508905	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs112961553	chr17:43508957-43508958	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs73307520	chr17:43509037-43509038	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374536814	chr17:43509047-43509048	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs113757296	chr17:43509097-43509098	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs568404593	chr17:43509140-43509141	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs535839737	chr17:43509183-43509184	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs556978436	chr17:43509257-43509258	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs62064652	chr17:43509310-43509311	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs62064653	chr17:43509316-43509317	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs12951826	chr17:43509348-43509349	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs557504511	chr17:43509453-43509454	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs377031373	chr17:43509624-43509625	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs572681428	chr17:43509692-43509693	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs371573638	chr17:43509693-43509694	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs56020833	chr17:43509778-43509779	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs189623303	chr17:43509793-43509794	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs549606252	chr17:43509796-43509797	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs544146319	chr17:43509803-43509804	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs571206641	chr17:43509951-43509952	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs367740907	chr17:43509955-43509956	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs552825843	chr17:43509962-43509963	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs1230088	chr17:43510028-43510029	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528679703	chr17:43510071-43510072	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs182351574	chr17:43510072-43510073	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs9909788	chr17:43510074-43510075	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs575415338	chr17:43510177-43510178	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs55642947	chr17:43510187-43510188	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs535491497	chr17:43510191-43510192	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs550917947	chr17:43510392-43510393	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs569081266	chr17:43510399-43510400	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs539378915	chr17:43510450-43510451	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs2684631	chr17:43510650-43510651	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368293261	chr17:43510687-43510688	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs533733169	chr17:43510716-43510717	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555170380	chr17:43510721-43510722	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs114640898	chr17:43510841-43510842	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs377712642	chr17:43510926-43510927	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs543880554	chr17:43510990-43510991	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371978956	chr17:43511043-43511044	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs562476943	chr17:43511048-43511049	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs577689045	chr17:43511058-43511059	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs150072721	chr17:43511089-43511090	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs370516085	chr17:43511094-43511095	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs72834513	chr17:43511101-43511102	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs564768684	chr17:43511109-43511110	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs541244498	chr17:43511151-43511152	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs528701809	chr17:43511168-43511169	Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs200500865	chr17:43511218-43511219	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547131613	chr17:43511240-43511241	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1341 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43506000-43510400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr17:43506000-43510600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:43506200-43510400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr17:43506400-43510600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:43507400-43509000	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr17:43507600-43509200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr17:43507800-43509000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
8	chr17:43507800-43509000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
9	chr17:43507800-43509000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr17:43507800-43509200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
11	chr17:43507800-43510200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
12	chr17:43507800-43510600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr17:43507800-43510600	Active TSS	Esophagus	oesophagus
14	chr17:43507800-43511000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:43508000-43509000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr17:43508000-43509000	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr17:43508000-43509000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr17:43508000-43509000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:43508000-43509000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr17:43508000-43509000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:43508000-43509000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr17:43508000-43509200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr17:43508000-43509200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:43508000-43509200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:43508000-43509200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr17:43508000-43509200	Flanking Active TSS	Right Ventricle	heart
27	chr17:43508000-43509200	Flanking Active TSS	HMEC	breast
28	chr17:43508000-43510000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr17:43508000-43510000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr17:43508000-43510000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr17:43508000-43510600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr17:43508000-43510600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr17:43508000-43510800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:43508200-43509000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:43508200-43509000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr17:43508200-43509000	Flanking Active TSS	Right Atrium	heart
43	chr17:43508200-43509400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:43508200-43509600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr17:43508200-43510000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr17:43508200-43510200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr17:43508200-43510400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr17:43508200-43510600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr17:43508200-43510600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr17:43508200-43510800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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