Variant report

Variant	esv3437453
Chromosome Location	chr5:57755020-57757568
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	chr5:57756669-57756934	HepG2	liver:	n/a	n/a
2	ATF2	chr5:57756494-57756927	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr5:57756491-57756984	A549	lung:	n/a	n/a
4	ATF3	chr5:57755561-57756088	A549	lung:	n/a	n/a
5	ATF3	chr5:57755575-57756176	A549	lung:	n/a	n/a
6	BACH1	chr5:57755465-57756881	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr5:57751905-57755240	A549	lung:	n/a	n/a
8	BCL3	chr5:57755517-57756959	A549	lung:	n/a	chr5:57756555-57756568 chr5:57756369-57756382 chr5:57756000-57756013 chr5:57756226-57756235
9	BCL3	chr5:57754506-57755468	A549	lung:	n/a	chr5:57755438-57755451
10	BCL3	chr5:57755607-57756208	A549	lung:	n/a	chr5:57756000-57756013
11	BHLHE40	chr5:57755680-57756035	HepG2	liver:	n/a	n/a
12	BHLHE40	chr5:57755714-57755998	A549	lung:	n/a	n/a
13	BRCA1	chr5:57755681-57756351	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:57756642-57756827	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr5:57756454-57756701	HepG2	liver:	n/a	n/a
16	CEBPB	chr5:57755572-57756191	A549	lung:	n/a	n/a
17	CEBPB	chr5:57754556-57755327	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:57756571-57756771	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr5:57756553-57756729	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:57755689-57756923	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr5:57755719-57756049	HepG2	liver:	n/a	n/a
22	CHD1	chr5:57751128-57757458	IMR90	lung:	n/a	n/a
23	CHD1	chr5:57755696-57755896	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr5:57756282-57756303	GM12878	blood:	n/a	n/a
25	CHD2	chr5:57755400-57756832	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr5:57755216-57756902	HepG2	liver:	n/a	n/a
27	CHD2	chr5:57755788-57755898	GM12878	blood:	n/a	n/a
28	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
29	CREB1	chr5:57755687-57756328	A549	lung:	n/a	n/a
30	CREB1	chr5:57755653-57756464	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr5:57755708-57756293	ECC-1	luminal epithelium:	n/a	n/a
32	CREB1	chr5:57755358-57756838	A549	lung:	n/a	n/a
33	CREB1	chr5:57755650-57756468	HepG2	liver:	n/a	n/a
34	CREB1	chr5:57755589-57756505	GM12878	blood:	n/a	n/a
35	CREB1	chr5:57755597-57756974	HepG2	liver:	n/a	n/a
36	CREB1	chr5:57755661-57756934	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr5:57755583-57756960	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTBP2	chr5:57755242-57756924	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:57756140-57756290	GM12873	blood:	n/a	chr5:57756239-57756248 chr5:57756238-57756251 chr5:57756235-57756248
40	CTCF	chr5:57756136-57756376	Pancreas_OC	pancreas:	n/a	chr5:57756239-57756248 chr5:57756238-57756251 chr5:57756235-57756248
41	CTCF	chr5:57756620-57756851	ECC-1	luminal epithelium:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
42	CTCF	chr5:57756720-57756870	WI-38	lung:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
43	CTCF	chr5:57756160-57756310	HRPEpiC	eye:	n/a	chr5:57756239-57756248 chr5:57756238-57756251 chr5:57756235-57756248
44	CTCF	chr5:57756665-57756844	HepG2	liver:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
45	CTCF	chr5:57756583-57756912	GM19240	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
46	CTCF	chr5:57756680-57756830	AG04449	skin:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
47	CTCF	chr5:57756157-57756340	GM10266	blood:	n/a	chr5:57756239-57756248 chr5:57756238-57756251 chr5:57756235-57756248
48	CTCF	chr5:57756180-57756330	HCM	heart:	n/a	chr5:57756239-57756248 chr5:57756238-57756251 chr5:57756235-57756248
49	CTCF	chr5:57755780-57755930	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:57756545-57756880	HepG2	liver:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:57756505-57756555	SK-N-SH_RA	brain:	n/a
2	chr5:57756539-57756589	HRE	kidney:	n/a
3	chr5:57755881-57755931	AG04449	skin:	fetal
4	chr5:57755773-57755823	MCF10A-Er-Src	breast:	n/a
5	chr5:57756537-57756587	PANC-1	pancreas:	n/a
6	chr5:57756505-57756555	ProgFib	skin:	n/a
7	chr5:57756026-57756076	BJ	skin:	n/a
8	chr5:57756505-57756555	Hela-S3	cervix:	n/a
9	chr5:57755773-57755823	NHDF-neo	bronchial:	n/a
10	chr5:57756537-57756587	Hepatocyte	liver:	n/a
11	chr5:57755881-57755931	HEEpiC	esophagus:	n/a
12	chr5:57756802-57756852	ECC-1	luminal epithelium:	n/a
13	chr5:57756024-57756074	MCF10A-Er-Src	breast:	n/a
14	chr5:57756802-57756852	PANC-1	pancreas:	n/a
15	chr5:57755861-57755911	ProgFib	skin:	n/a
16	chr5:57756026-57756076	RPTEC	kidney:	n/a
17	chr5:57756026-57756076	CMK	blood:	n/a
18	chr5:57755298-57755348	HepG2	liver:	n/a
19	chr5:57756024-57756074	AG04449	skin:	fetal
20	chr5:57756026-57756076	GM12891	blood:	n/a
21	chr5:57755798-57755848	ovcar-3	ovarian:	n/a
22	chr5:57756802-57756852	Hepatocyte	liver:	n/a
23	chr5:57756539-57756589	U87	brain:	n/a
24	chr5:57756537-57756587	RPTEC	kidney:	n/a
25	chr5:57755881-57755931	SK-N-MC	brain:	n/a
26	chr5:57756505-57756555	HRPEpiC	eye:	n/a
27	chr5:57755861-57755911	HUVEC	blood vessel:	n/a
28	chr5:57756980-57757030	GM12878	blood:	n/a
29	chr5:57756539-57756589	GM12892	blood:	n/a
30	chr5:57755944-57755994	NB4	blood:	n/a
31	chr5:57755881-57755931	NB4	blood:	n/a
32	chr5:57755923-57755973	HCPEpiC	choroid plexus:	n/a
33	chr5:57755923-57755973	NHBE	bronchial:	n/a
34	chr5:57756026-57756076	HCF	heart:	n/a
35	chr5:57756024-57756074	HL-60	blood:	n/a
36	chr5:57756539-57756589	GM06990	blood:	n/a
37	chr5:57756802-57756852	GM19239	blood:	n/a
38	chr5:57756539-57756589	SK-N-MC	brain:	n/a
39	chr5:57755298-57755348	U87	brain:	n/a
40	chr5:57755861-57755911	RPTEC	kidney:	n/a
41	chr5:57755798-57755848	A549	lung:	n/a
42	chr5:57755861-57755911	AG09319	gingival:	n/a
43	chr5:57755798-57755848	RPTEC	kidney:	n/a
44	chr5:57755861-57755911	ovcar-3	ovarian:	n/a
45	chr5:57756505-57756555	NT2-D1	testis:	n/a
46	chr5:57755773-57755823	HRE	kidney:	n/a
47	chr5:57756505-57756555	IMR90	lung:	fetal
48	chr5:57755944-57755994	CMK	blood:	n/a
49	chr5:57755773-57755823	GM12878	blood:	n/a
50	chr5:57755881-57755931	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57168184..57169711-chr5:57754494..57756798,2	MCF-7	breast:
2	chr5:57754151..57755936-chr7:55433318..55434853,2	MCF-7	breast:
3	chr5:57068006..57070437-chr5:57756613..57758535,2	MCF-7	breast:
4	chr17:57923573..57925801-chr5:57753845..57756826,2	MCF-7	breast:
5	chr11:67272949..67273778-chr5:57755428..57756176,2	Hela-S3	cervix:
6	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:
7	chr13:45914599..45915531-chr5:57755434..57756066,2	Hela-S3	cervix:
8	chr1:161102239..161102759-chr5:57755529..57756269,2	Hela-S3	cervix:
9	chr1:11968161..11969978-chr5:57755723..57757847,2	MCF-7	breast:
10	chr5:56718251..56719814-chr5:57752697..57755659,2	MCF-7	breast:
11	chr5:56946261..56947053-chr5:57756221..57757048,2	K562	blood:
12	chr19:45349020..45349868-chr5:57755580..57756191,2	Hela-S3	cervix:
13	chr5:57755500..57756258-chr6:26157554..26158450,2	Hela-S3	cervix:
14	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
15	chr20:42086071..42087018-chr5:57755652..57756175,2	MCF-7	breast:
16	chr5:57183468..57184088-chr5:57756668..57757203,2	MCF-7	breast:
17	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
18	chr5:43483590..43484682-chr5:57755358..57756317,3	Hela-S3	cervix:
19	chr1:70820185..70820796-chr5:57755458..57756161,2	Hela-S3	cervix:
20	chr4:122721925..122722763-chr5:57755619..57756423,2	HCT-116	colon:
21	chr1:8937566..8938548-chr5:57755874..57756660,2	Hela-S3	cervix:
22	chr5:57158588..57161134-chr5:57757060..57758676,2	MCF-7	breast:
23	chr15:50646865..50647703-chr5:57755281..57755896,2	HCT-116	colon:

Variant related genes	Relation type
PLK2	TF binding region
PLK2	CpG island
ENSG00000201524	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000147789	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000250308	chromatin interactions
ENSG00000118454	chromatin interactions
ENSG00000238899	chromatin interactions
ENSG00000266864	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000197568	chromatin interactions
ENSG00000170919	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000133112	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000130202	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000236269	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000123737	chromatin interactions
ENSG00000132434	chromatin interactions
ENSG00000074800	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569370620	chr5:57755052-57755053	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs575518201	chr5:57755076-57755077	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs546129389	chr5:57755096-57755097	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs551955798	chr5:57755129-57755130	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs564338118	chr5:57755148-57755149	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs573359555	chr5:57755227-57755228	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs73094327	chr5:57755228-57755229	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562062341	chr5:57755346-57755347	Active TSS 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
9	rs201278344	chr5:57755348-57755349	Active TSS 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
10	rs2408945	chr5:57755352-57755353	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs73094329	chr5:57755392-57755393	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550976673	chr5:57755418-57755419	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs566124462	chr5:57755428-57755429	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs369427635	chr5:57755526-57755527	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs533259497	chr5:57755550-57755551	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs551701713	chr5:57755557-57755558	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs147201214	chr5:57755559-57755560	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs566617828	chr5:57755570-57755571	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs372211010	chr5:57755583-57755584	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs376580707	chr5:57755589-57755590	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs367570972	chr5:57755597-57755598	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs140600076	chr5:57755609-57755610	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs199941195	chr5:57755617-57755618	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs372182350	chr5:57755640-57755641	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
25	rs144564763	chr5:57755642-57755643	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs3211270	chr5:57755703-57755704	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139235564	chr5:57755733-57755734	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs115808605	chr5:57755750-57755751	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
29	rs555731909	chr5:57755761-57755762	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs145236520	chr5:57755774-57755775	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs149174454	chr5:57755775-57755776	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs1042982	chr5:57755781-57755782	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs112934372	chr5:57755787-57755788	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs376825299	chr5:57755801-57755802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs369675466	chr5:57755803-57755804	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs191435553	chr5:57755827-57755828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs15915	chr5:57755843-57755844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573357014	chr5:57755847-57755848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs540448020	chr5:57755856-57755857	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs78253193	chr5:57755872-57755873	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs543988567	chr5:57755879-57755880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs544762144	chr5:57755881-57755882	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs562821682	chr5:57755882-57755883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs533372842	chr5:57755907-57755908	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs33921924	chr5:57755923-57755924	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183592920	chr5:57755924-57755925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs963615	chr5:57755936-57755937	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113772469	chr5:57755940-57755941	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs548892091	chr5:57755944-57755945	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs537546444	chr5:57755962-57755963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:57750800-57756800	Active TSS	Right Atrium	heart
3	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
4	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:57751600-57756800	Active TSS	Right Ventricle	heart
6	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
7	chr5:57751800-57756800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:57752000-57756600	Active TSS	Aorta	Aorta
9	chr5:57752200-57756200	Active TSS	Stomach Smooth Muscle	stomach
10	chr5:57752200-57756800	Active TSS	Fetal Stomach	stomach
11	chr5:57752200-57756800	Active TSS	Lung	lung
12	chr5:57752200-57756800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr5:57753000-57756800	Active TSS	Esophagus	oesophagus
14	chr5:57753200-57756200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:57753200-57756400	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:57753400-57756600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:57753400-57756600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:57753400-57756800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:57753400-57756800	Active TSS	Psoas Muscle	Psoas
20	chr5:57753600-57756200	Active TSS	Colonic Mucosa	Colon
21	chr5:57753600-57756800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr5:57753600-57756800	Active TSS	NHDF-Ad	bronchial
23	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:57753800-57755800	Active TSS	Fetal Brain Male	brain
25	chr5:57753800-57756200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr5:57753800-57756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:57753800-57756800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:57754000-57755400	Active TSS	Fetal Brain Female	brain
29	chr5:57754000-57755800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:57754000-57756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:57754200-57755200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr5:57754200-57755200	Flanking Active TSS	Dnd41	blood
33	chr5:57754200-57755400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:57754200-57755400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:57754200-57756600	Active TSS	Gastric	stomach
36	chr5:57754200-57756600	Active TSS	Stomach Mucosa	stomach
37	chr5:57754200-57756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:57754200-57756800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:57754200-57756800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:57754200-57756800	Active TSS	Colon Smooth Muscle	Colon
41	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
42	chr5:57754400-57755400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr5:57754400-57755800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:57754400-57755800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr5:57754400-57756000	Active TSS	Fetal Heart	heart
46	chr5:57754400-57756200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:57754400-57756200	Active TSS	Fetal Lung	lung
48	chr5:57754400-57756200	Active TSS	NHLF	lung
49	chr5:57754400-57756400	Active TSS	Fetal Muscle Trunk	muscle
50	chr5:57754400-57756800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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