Variant report

Variant	esv3388808
Chromosome Location	chr5:95296221-95299069
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	ARID3A	chr5:95298552-95298801	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:95297779-95298141	K562	blood:	n/a	n/a
3	ARID3A	chr5:95296956-95296980	K562	blood:	n/a	n/a
4	ARID3A	chr5:95296942-95297236	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:95298691-95298755	K562	blood:	n/a	n/a
6	ARID3A	chr5:95297601-95298017	HepG2	liver:	n/a	n/a
7	ATF1	chr5:95297462-95298753	K562	blood:	n/a	chr5:95297746-95297760
8	ATF2	chr5:95297535-95298585	H1-hESC	embryonic stem cell:	n/a	chr5:95297746-95297760 chr5:95297782-95297793
9	ATF2	chr5:95296639-95297056	GM12878	blood:	n/a	n/a
10	ATF2	chr5:95296413-95297124	GM12878	blood:	n/a	n/a
11	ATF2	chr5:95297472-95298312	GM12878	blood:	n/a	chr5:95297746-95297760 chr5:95297782-95297793
12	ATF2	chr5:95297557-95298061	H1-hESC	embryonic stem cell:	n/a	chr5:95297746-95297760 chr5:95297782-95297793
13	ATF2	chr5:95297608-95298119	GM12878	blood:	n/a	chr5:95297746-95297760 chr5:95297782-95297793
14	ATF3	chr5:95296924-95297195	K562	blood:	n/a	n/a
15	ATF3	chr5:95296814-95297265	A549	lung:	n/a	chr5:95297211-95297220
16	ATF3	chr5:95297562-95297902	K562	blood:	n/a	chr5:95297687-95297696 chr5:95297781-95297792 chr5:95297783-95297803 chr5:95297784-95297791 chr5:95297784-95297794 chr5:95297782-95297793 chr5:95297784-95297792
17	ATF3	chr5:95297620-95297886	K562	blood:	n/a	chr5:95297687-95297696 chr5:95297781-95297792 chr5:95297783-95297803 chr5:95297784-95297791 chr5:95297784-95297794 chr5:95297782-95297793 chr5:95297784-95297792
18	BACH1	chr5:95297564-95298715	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr5:95296762-95297235	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr5:95297626-95297907	GM12878	blood:	n/a	n/a
21	BCL3	chr5:95296884-95297313	GM12878	blood:	n/a	chr5:95296934-95296943 chr5:95297013-95297026 chr5:95297155-95297168 chr5:95297201-95297214
22	BCL3	chr5:95297609-95298120	A549	lung:	n/a	n/a
23	BCLAF1	chr5:95297590-95298317	K562	blood:	n/a	n/a
24	BCLAF1	chr5:95296674-95297403	GM12878	blood:	n/a	chr5:95296934-95296943 chr5:95297013-95297026 chr5:95297155-95297168 chr5:95297201-95297214
25	BCLAF1	chr5:95296674-95297504	GM12878	blood:	n/a	chr5:95296934-95296943 chr5:95297013-95297026 chr5:95297155-95297168 chr5:95297201-95297214
26	BHLHE40	chr5:95296861-95297310	K562	blood:	n/a	chr5:95297146-95297162 chr5:95297203-95297219 chr5:95297154-95297170 chr5:95297041-95297057 chr5:95297057-95297073
27	BHLHE40	chr5:95297630-95298297	HepG2	liver:	n/a	n/a
28	BHLHE40	chr5:95296720-95298254	GM12878	blood:	n/a	chr5:95297146-95297162 chr5:95297203-95297219 chr5:95297154-95297170 chr5:95297041-95297057 chr5:95296851-95296867 chr5:95297057-95297073
29	BHLHE40	chr5:95298632-95298743	K562	blood:	n/a	n/a
30	BHLHE40	chr5:95297607-95298215	K562	blood:	n/a	n/a
31	BHLHE40	chr5:95296036-95296489	K562	blood:	n/a	n/a
32	BRCA1	chr5:95297478-95297978	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr5:95297030-95297130	HepG2	liver:	n/a	n/a
34	BRCA1	chr5:95296347-95296493	GM12878	blood:	n/a	n/a
35	BRCA1	chr5:95297703-95297923	GM12878	blood:	n/a	n/a
36	BRCA1	chr5:95297722-95298011	HepG2	liver:	n/a	n/a
37	BRCA1	chr5:95295949-95296668	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr5:95296857-95297088	GM12878	blood:	n/a	n/a
39	BRCA1	chr5:95297655-95298316	H1-hESC	embryonic stem cell:	n/a	n/a
40	CBX3	chr5:95296840-95298243	K562	blood:	n/a	n/a
41	CCNT2	chr5:95296387-95298017	K562	blood:	n/a	chr5:95297897-95297906 chr5:95296574-95296583
42	CEBPB	chr5:95297843-95298131	HepG2	liver:	n/a	n/a
43	CEBPB	chr5:95297024-95297155	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:95297712-95298187	K562	blood:	n/a	n/a
45	CEBPB	chr5:95297608-95297919	Hela-S3	cervix:	n/a	n/a
46	CEBPD	chr5:95297319-95297635	HepG2	liver:	n/a	n/a
47	CHD1	chr5:95297092-95297292	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr5:95296323-95296769	H1-hESC	embryonic stem cell:	n/a	chr5:95296574-95296584
49	CHD1	chr5:95298034-95298600	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr5:95290276-95298838	IMR90	lung:	n/a	chr5:95296574-95296584

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95296847-95296897	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:95296847-95296897	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:95297900-95297950	GM12892	blood:	n/a
4	chr5:95297364-95297414	HRE	kidney:	n/a
5	chr5:95297817-95297867	Jurkat	blood:	n/a
6	chr5:95296847-95296897	SKMC	muscle:	n/a
7	chr5:95296502-95296552	AG04450	lung:	fetal
8	chr5:95298041-95298091	H1-hESC	embryonic stem cell:	embryo
9	chr5:95298041-95298091	AoSMC	blood vessel:	n/a
10	chr5:95298041-95298091	HCM	heart:	n/a
11	chr5:95296502-95296552	HCF	heart:	n/a
12	chr5:95298673-95298723	AG10803	skin:	n/a
13	chr5:95298041-95298091	HCF	heart:	n/a
14	chr5:95296847-95296897	SK-N-SH	brain:	n/a
15	chr5:95296502-95296552	MCF10A-Er-Src	breast:	n/a
16	chr5:95297792-95297842	HCT-116	colon:	n/a
17	chr5:95298142-95298192	HCF	heart:	n/a
18	chr5:95298041-95298091	CMK	blood:	n/a
19	chr5:95298307-95298357	HIPEpiC	eye:	n/a
20	chr5:95297900-95297950	Hela-S3	cervix:	n/a
21	chr5:95297508-95297558	GM06990	blood:	n/a
22	chr5:95297792-95297842	ECC-1	luminal epithelium:	n/a
23	chr5:95297817-95297867	T-47D	breast:	n/a
24	chr5:95297817-95297867	ProgFib	skin:	n/a
25	chr5:95298066-95298116	BE2_C	brain:	n/a
26	chr5:95297364-95297414	RPTEC	kidney:	n/a
27	chr5:95297236-95297286	PFSK-1	brain:	n/a
28	chr5:95298142-95298192	HEEpiC	esophagus:	n/a
29	chr5:95296847-95296897	Hela-S3	cervix:	n/a
30	chr5:95297593-95297643	BJ	skin:	n/a
31	chr5:95298066-95298116	H1-hESC	embryonic stem cell:	embryo
32	chr5:95298307-95298357	U87	brain:	n/a
33	chr5:95297364-95297414	HNPCEpiC	eye:	n/a
34	chr5:95298066-95298116	AG04450	lung:	fetal
35	chr5:95298307-95298357	NHDF-neo	bronchial:	n/a
36	chr5:95297817-95297867	Hepatocyte	liver:	n/a
37	chr5:95297508-95297558	LNCaP	prostate:	n/a
38	chr5:95298041-95298091	GM19239	blood:	n/a
39	chr5:95296847-95296897	HepG2	liver:	n/a
40	chr5:95298307-95298357	MCF-7	breast:	n/a
41	chr5:95297900-95297950	AoSMC	blood vessel:	n/a
42	chr5:95298307-95298357	T-47D	breast:	n/a
43	chr5:95297508-95297558	HNPCEpiC	eye:	n/a
44	chr5:95297508-95297558	HEK293	kidney:	embryo
45	chr5:95298041-95298091	AG09319	gingival:	n/a
46	chr5:95298142-95298192	LNCaP	prostate:	n/a
47	chr5:95297731-95297781	HRCEpiC	kidney:	n/a
48	chr5:95298066-95298116	Hepatocyte	liver:	n/a
49	chr5:95298041-95298091	MCF10A-Er-Src	breast:	n/a
50	chr5:95298066-95298116	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95294561..95296390-chr5:95300649..95302787,2	MCF-7	breast:
2	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:
3	chr5:95295795..95298001-chr5:95305862..95309802,3	MCF-7	breast:
4	chr5:95284805..95286720-chr5:95295035..95296550,2	MCF-7	breast:
5	chr17:8339196..8339942-chr5:95296569..95297482,2	Hela-S3	cervix:
6	chr15:65588296..65588838-chr5:95297026..95297696,2	Hela-S3	cervix:
7	chr15:65321247..65322203-chr5:95297173..95297723,2	NB4	blood:
8	chr5:95195786..95198605-chr5:95296132..95297926,2	MCF-7	breast:
9	chr5:94979878..94983810-chr5:95295717..95298674,4	K562	blood:
10	chr5:95294090..95296695-chr5:95356956..95358736,2	K562	blood:
11	chr5:95265302..95267698-chr5:95294461..95296344,2	K562	blood:
12	chr5:95286112..95286806-chr5:95296552..95297435,2	K562	blood:
13	chr5:95297276..95297777-chr9:88714838..88715592,2	HCT-116	colon:
14	chr5:95297972..95300750-chr5:95328029..95330073,2	K562	blood:
15	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
16	chr5:95268201..95271259-chr5:95293634..95296677,4	K562	blood:
17	chr5:95296785..95297386-chr5:95671362..95672780,3	MCF-7	breast:
18	chr5:95296142..95297757-chr5:95548308..95551059,2	MCF-7	breast:
19	chr1:154155210..154155901-chr5:95296371..95296884,2	Hela-S3	cervix:
20	chr5:95296736..95297237-chr5:96143183..96143683,2	Hela-S3	cervix:
21	chr5:95194274..95195016-chr5:95296491..95297023,2	K562	blood:
22	chr5:95294835..95302887-chr5:95306601..95313873,11	K562	blood:
23	chr5:95228224..95229078-chr5:95296351..95297478,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAST-4	chr5:95297705-95297740	ENSG00000251314.1
2	lnc-CAST-4	chr5:95297705-95297740	ENSG00000251314.2
3	lnc-CAST-4	chr5:95297706-95297740	ENSG00000251314.1

Variant related genes	Relation type
ELL2	TF binding region
ENSG00000251314	TF binding region
ELL2	CpG island
ENSG00000251314	CpG island
ENSG00000164307	chromatin interactions
ENSG00000250362	chromatin interactions
ENSG00000135052	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000166579	chromatin interactions
ENSG00000103707	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000175449	chromatin interactions
ENSG00000249746	chromatin interactions
ENSG00000213716	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144833421	chr5:95296229-95296230	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs552361806	chr5:95296240-95296241	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs559486069	chr5:95296303-95296304	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs34166627	chr5:95296353-95296354	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs370849505	chr5:95296358-95296359	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs374276609	chr5:95296402-95296403	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs548696640	chr5:95296438-95296439	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs115053924	chr5:95296448-95296449	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs532658791	chr5:95296478-95296479	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs181809201	chr5:95296513-95296514	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs113521038	chr5:95296537-95296538	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs570771413	chr5:95296574-95296575	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs528127256	chr5:95296581-95296582	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs539711702	chr5:95296584-95296585	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs553228479	chr5:95296632-95296633	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs140602738	chr5:95296656-95296657	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs535274679	chr5:95296706-95296707	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs3834269	chr5:95296774-95296775	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs370360609	chr5:95296775-95296776	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs56925341	chr5:95296776-95296777	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs527861360	chr5:95296780-95296781	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs150494186	chr5:95296789-95296790	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs184839187	chr5:95296846-95296847	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs138332877	chr5:95296913-95296914	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs563697197	chr5:95296937-95296938	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs114104455	chr5:95296962-95296963	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs79815053	chr5:95296978-95296979	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs377542787	chr5:95297023-95297024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs151183231	chr5:95297060-95297061	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs559773970	chr5:95297148-95297149	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs528724059	chr5:95297164-95297165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs372741026	chr5:95297240-95297241	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs375992026	chr5:95297252-95297253	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs369571062	chr5:95297254-95297255	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs201260087	chr5:95297256-95297257	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs199813969	chr5:95297264-95297265	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs376751603	chr5:95297270-95297271	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs551009052	chr5:95297275-95297276	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs369265927	chr5:95297330-95297331	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs570828892	chr5:95297349-95297350	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs201782127	chr5:95297367-95297368	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs141299831	chr5:95297373-95297374	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs546948042	chr5:95297387-95297388	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs372944065	chr5:95297436-95297437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs535690853	chr5:95297448-95297449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs555225698	chr5:95297542-95297543	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs575308858	chr5:95297550-95297551	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs370768939	chr5:95297572-95297573	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs189566357	chr5:95297596-95297597	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs2080948	chr5:95297627-95297628	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95290600-95296800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr5:95293000-95296600	Transcr. at gene 5' and 3'	NHEK	skin
3	chr5:95293800-95296600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95293800-95296800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95293800-95296800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr5:95293800-95297800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:95294000-95297400	Bivalent/Poised TSS	HepG2	liver
8	chr5:95294000-95298000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:95294000-95298000	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:95294400-95297800	Active TSS	HSMMtube	muscle
11	chr5:95294400-95298600	Active TSS	Aorta	Aorta
12	chr5:95294600-95296400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:95294600-95298000	Active TSS	Brain Angular Gyrus	brain
14	chr5:95294600-95298200	Active TSS	Fetal Intestine Large	intestine
15	chr5:95294600-95298200	Active TSS	GM12878-XiMat	blood
16	chr5:95294600-95298400	Active TSS	Brain Substantia Nigra	brain
17	chr5:95294800-95296400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:95294800-95296400	Flanking Active TSS	Fetal Brain Male	brain
19	chr5:95294800-95296400	Flanking Active TSS	K562	blood
20	chr5:95294800-95296600	Flanking Active TSS	Fetal Thymus	thymus
21	chr5:95294800-95297000	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
22	chr5:95294800-95297000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:95295000-95296400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:95295000-95298000	Active TSS	Gastric	stomach
25	chr5:95295000-95298400	Active TSS	Colonic Mucosa	Colon
26	chr5:95295000-95298600	Active TSS	Brain Hippocampus Middle	brain
27	chr5:95295200-95296400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr5:95295200-95296400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr5:95295200-95296400	Flanking Active TSS	Fetal Lung	lung
30	chr5:95295200-95298200	Active TSS	Small Intestine	intestine
31	chr5:95295400-95296400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:95295400-95296400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr5:95295400-95296600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:95295400-95297000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:95295400-95298200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:95295400-95298200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:95295400-95298200	Active TSS	Brain Anterior Caudate	brain
38	chr5:95295400-95298400	Active TSS	Pancreas	Pancrea
39	chr5:95295400-95298600	Active TSS	Right Ventricle	heart
40	chr5:95295600-95296400	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr5:95295600-95296600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr5:95295600-95296800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:95295600-95297200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:95295600-95297800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:95295600-95297800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:95295600-95297800	Active TSS	Hela-S3	cervix
47	chr5:95295600-95298000	Active TSS	Liver	Liver
48	chr5:95295600-95298000	Active TSS	Fetal Heart	heart
49	chr5:95295600-95298200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:95295600-95298200	Active TSS	Lung	lung

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