Variant report

Variant	esv3333737
Chromosome Location	chr17:46627753-46629651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:671)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:107 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr17:46627827-46628115	K562	blood:	n/a	n/a
2	CHD1	chr17:46628704-46638012	IMR90	lung:	n/a	chr17:46633605-46633615
3	CTBP2	chr17:46627591-46628040	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr17:46627780-46627930	NHLF	lung:	n/a	n/a
5	CTCF	chr17:46627830-46627857	GM10248	blood:	n/a	n/a
6	CTCF	chr17:46627740-46627981	HepG2	liver:	n/a	n/a
7	CTCF	chr17:46627840-46627990	AG04450	lung:	n/a	n/a
8	CTCF	chr17:46627880-46628030	WI-38	lung:	n/a	n/a
9	CTCF	chr17:46627860-46628010	AG09309	skin:	n/a	n/a
10	CTCF	chr17:46627674-46628006	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:46627760-46627910	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr17:46627820-46627970	HRE	kidney:	n/a	n/a
13	CTCF	chr17:46627760-46627910	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr17:46627820-46627970	AG09309	skin:	n/a	n/a
15	CTCF	chr17:46627800-46627950	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr17:46627820-46627970	BE2_C	brain:	n/a	n/a
17	CTCF	chr17:46627780-46627930	HRE	kidney:	n/a	n/a
18	CTCF	chr17:46627818-46627961	NHEK	skin:	n/a	n/a
19	CTCF	chr17:46627780-46627930	BE2_C	brain:	n/a	n/a
20	CTCF	chr17:46627869-46627873	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr17:46627789-46627822	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:46627800-46627950	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr17:46627820-46627970	RPTEC	kidney:	n/a	n/a
24	CTCF	chr17:46627780-46627930	HMF	breast:	n/a	n/a
25	CTCF	chr17:46627840-46627990	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr17:46627783-46627850	GM12891	blood:	n/a	n/a
27	CTCF	chr17:46627840-46627990	AG04449	skin:	n/a	n/a
28	CTCF	chr17:46627780-46627930	HPF	lung:	n/a	n/a
29	CTCF	chr17:46627640-46627790	GM12864	blood:	n/a	n/a
30	CTCF	chr17:46627840-46627990	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr17:46627820-46627970	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr17:46627720-46627870	HAc	cerebellar:	n/a	n/a
33	CTCF	chr17:46627785-46627963	ProgFib	skin:	n/a	n/a
34	CTCF	chr17:46627780-46627930	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr17:46627800-46627950	HCM	heart:	n/a	n/a
36	CTCF	chr17:46627824-46627833	MCF-7	breast:	n/a	n/a
37	CTCF	chr17:46627800-46627950	HMF	breast:	n/a	n/a
38	CTCF	chr17:46628230-46628291	GM13976	blood:	n/a	n/a
39	CTCF	chr17:46627820-46627970	WI-38	lung:	n/a	n/a
40	CTCF	chr17:46627760-46627910	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr17:46627702-46627984	K562	blood:	n/a	n/a
42	CTCF	chr17:46627820-46627970	SAEC	small airway:	n/a	n/a
43	CTCF	chr17:46627840-46627990	SAEC	small airway:	n/a	n/a
44	CTCF	chr17:46627820-46627970	AG04450	lung:	n/a	n/a
45	CTCF	chr17:46627860-46628010	HPF	lung:	n/a	n/a
46	CTCF	chr17:46627780-46627930	HEK293	kidney:	n/a	n/a
47	CTCF	chr17:46627655-46628055	IMR90	lung:	n/a	n/a
48	CTCF	chr17:46627754-46627991	Gliobla	brain:	n/a	n/a
49	CTCF	chr17:46627703-46627943	K562	blood:	n/a	n/a
50	CTCF	chr17:46627800-46627950	HepG2	liver:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46628717-46628767	NT2-D1	testis:	n/a
2	chr17:46629350-46629400	HEK293	kidney:	embryo
3	chr17:46628663-46628713	SAEC	small airway:	n/a
4	chr17:46629018-46629068	A549	lung:	n/a
5	chr17:46627848-46627898	ProgFib	skin:	n/a
6	chr17:46628717-46628767	Hela-S3	cervix:	n/a
7	chr17:46628224-46628274	SK-N-SH_RA	brain:	n/a
8	chr17:46629018-46629068	H1-hESC	embryonic stem cell:	embryo
9	chr17:46628850-46628900	HCF	heart:	n/a
10	chr17:46628850-46628900	HCT-116	colon:	n/a
11	chr17:46628850-46628900	AG04449	skin:	fetal
12	chr17:46628663-46628713	HRPEpiC	eye:	n/a
13	chr17:46628663-46628713	HAEpiC	amniotic membrane:	n/a
14	chr17:46629306-46629356	HRPEpiC	eye:	n/a
15	chr17:46629350-46629400	ovcar-3	ovarian:	n/a
16	chr17:46629596-46629646	PANC-1	pancreas:	n/a
17	chr17:46628404-46628454	MCF-7	breast:	n/a
18	chr17:46629350-46629400	PrEC	prostate:	n/a
19	chr17:46628717-46628767	BE2_C	brain:	n/a
20	chr17:46629018-46629068	GM19239	blood:	n/a
21	chr17:46628404-46628454	HAEpiC	amniotic membrane:	n/a
22	chr17:46628303-46628353	HRCEpiC	kidney:	n/a
23	chr17:46629018-46629068	HNPCEpiC	eye:	n/a
24	chr17:46629350-46629400	IMR90	lung:	fetal
25	chr17:46629306-46629356	HCM	heart:	n/a
26	chr17:46628224-46628274	HL-60	blood:	n/a
27	chr17:46628717-46628767	SKMC	muscle:	n/a
28	chr17:46628717-46628767	HEEpiC	esophagus:	n/a
29	chr17:46628224-46628274	GM12892	blood:	n/a
30	chr17:46627848-46627898	PANC-1	pancreas:	n/a
31	chr17:46628717-46628767	SK-N-SH_RA	brain:	n/a
32	chr17:46628717-46628767	HL-60	blood:	n/a
33	chr17:46628663-46628713	IMR90	lung:	fetal
34	chr17:46628850-46628900	SK-N-MC	brain:	n/a
35	chr17:46629596-46629646	HCM	heart:	n/a
36	chr17:46629596-46629646	T-47D	breast:	n/a
37	chr17:46629596-46629646	Hela-S3	cervix:	n/a
38	chr17:46629018-46629068	HCF	heart:	n/a
39	chr17:46629306-46629356	Caco-2	colon:	n/a
40	chr17:46627848-46627898	NHBE	bronchial:	n/a
41	chr17:46628663-46628713	A549	lung:	n/a
42	chr17:46629596-46629646	MCF-7	breast:	n/a
43	chr17:46628663-46628713	AG04450	lung:	fetal
44	chr17:46628717-46628767	HRPEpiC	eye:	n/a
45	chr17:46627848-46627898	HRPEpiC	eye:	n/a
46	chr17:46629306-46629356	GM12878	blood:	n/a
47	chr17:46628850-46628900	HIPEpiC	eye:	n/a
48	chr17:46629018-46629068	SK-N-SH_RA	brain:	n/a
49	chr17:46629018-46629068	AG10803	skin:	n/a
50	chr17:46628303-46628353	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
HOXB-AS2	TF binding region
HOXB2	TF binding region
HOXB-AS2	CpG island
HOXB2	CpG island

Extended variants
information (count: 103 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371280391	chr17:46627755-46627756	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536179951	chr17:46627770-46627771	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374362765	chr17:46627777-46627778	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574808595	chr17:46627784-46627785	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140801857	chr17:46627794-46627795	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367990973	chr17:46627811-46627812	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371742802	chr17:46627831-46627832	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576238449	chr17:46627838-46627839	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374731560	chr17:46627844-46627845	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577722956	chr17:46627861-46627862	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs202018008	chr17:46627884-46627885	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs371706454	chr17:46627911-46627912	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538675287	chr17:46627914-46627915	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200456838	chr17:46627916-46627917	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369641305	chr17:46627926-46627927	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200036681	chr17:46627940-46627941	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2229303	chr17:46627945-46627946	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201716414	chr17:46627948-46627949	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574947932	chr17:46627971-46627972	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369908227	chr17:46627980-46627981	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543632777	chr17:46627991-46627992	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs367707640	chr17:46628060-46628061	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541990077	chr17:46628083-46628084	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs372079729	chr17:46628086-46628087	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142861434	chr17:46628116-46628117	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564050901	chr17:46628131-46628132	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201239761	chr17:46628132-46628133	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147425326	chr17:46628138-46628139	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200264312	chr17:46628142-46628143	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs138225601	chr17:46628143-46628144	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149347321	chr17:46628173-46628174	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201126398	chr17:46628176-46628177	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200719688	chr17:46628177-46628178	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs35517955	chr17:46628179-46628180	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369506276	chr17:46628187-46628188	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201674142	chr17:46628197-46628198	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200298834	chr17:46628206-46628207	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs148521405	chr17:46628207-46628208	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142877220	chr17:46628219-46628220	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs146112353	chr17:46628223-46628224	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs199720030	chr17:46628224-46628225	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs368031900	chr17:46628228-46628229	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs563790203	chr17:46628243-46628244	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs373574756	chr17:46628247-46628248	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs569979335	chr17:46628296-46628297	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs538887217	chr17:46628311-46628312	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs558593675	chr17:46628368-46628369	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565644656	chr17:46628374-46628375	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534729258	chr17:46628394-46628395	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200899839	chr17:46628398-46628399	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
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
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46621200-46629600	Weak transcription	Gastric	stomach
2	chr17:46621600-46628000	Weak transcription	Pancreas	Pancrea
3	chr17:46621600-46634400	Weak transcription	Hela-S3	cervix
4	chr17:46623800-46630800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:46624000-46629800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr17:46624600-46631600	Weak transcription	Esophagus	oesophagus
7	chr17:46625600-46629600	Weak transcription	GM12878-XiMat	blood
8	chr17:46625600-46630200	Genic enhancers	Fetal Stomach	stomach
9	chr17:46625600-46631600	Weak transcription	Right Atrium	heart
10	chr17:46626000-46627800	Genic enhancers	HSMM	muscle
11	chr17:46626200-46631600	Weak transcription	Aorta	Aorta
12	chr17:46626200-46631800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:46626400-46627800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:46626400-46628000	Genic enhancers	NHDF-Ad	bronchial
15	chr17:46626400-46628200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:46626400-46629000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr17:46626400-46632200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:46626400-46632600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46626400-46633200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:46626600-46627800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr17:46626600-46632400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:46626800-46627800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr17:46626800-46627800	Genic enhancers	K562	blood
24	chr17:46626800-46628000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr17:46626800-46628200	Strong transcription	HSMMtube	muscle
26	chr17:46626800-46629600	Strong transcription	Adipose Nuclei	Adipose
27	chr17:46626800-46630200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:46626800-46632600	Transcr. at gene 5' and 3'	NHLF	lung
29	chr17:46627000-46627800	Genic enhancers	Fetal Kidney	kidney
30	chr17:46627000-46628200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:46627000-46628600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:46627000-46628600	Bivalent Enhancer	Fetal Lung	lung
33	chr17:46627000-46630200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:46627200-46628200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:46627200-46628200	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr17:46627200-46628400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr17:46627200-46629800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:46627200-46632200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:46627400-46627800	Genic enhancers	Colonic Mucosa	Colon
40	chr17:46627400-46627800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr17:46627400-46627800	Genic enhancers	A549	lung
42	chr17:46627400-46628000	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr17:46627400-46628200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:46627400-46628200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:46627400-46628200	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr17:46627400-46628200	Flanking Bivalent TSS/Enh	NH-A	brain
47	chr17:46627400-46628400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46627400-46628400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
49	chr17:46627400-46629600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:46627400-46630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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