Variant report

Variant	esv3371359
Chromosome Location	chr5:154133784-154136632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1131)
CpG islands
(count:427)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:154134346-154134770	K562	blood:	n/a	n/a
2	ARID3A	chr5:154134472-154134807	HepG2	liver:	n/a	n/a
3	ATF2	chr5:154134319-154134722	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:154134290-154134869	GM12878	blood:	n/a	n/a
5	ATF2	chr5:154134053-154134786	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:154134383-154134787	GM12878	blood:	n/a	n/a
7	ATF3	chr5:154136628-154136811	K562	blood:	n/a	n/a
8	ATF3	chr5:154134777-154134989	K562	blood:	n/a	n/a
9	ATF3	chr5:154134337-154134839	A549	lung:	n/a	n/a
10	ATF3	chr5:154134424-154135025	K562	blood:	n/a	n/a
11	ATF3	chr5:154134394-154134732	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:154135706-154135978	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:154134175-154134720	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:154135755-154135939	K562	blood:	n/a	n/a
15	BACH1	chr5:154134020-154134344	K562	blood:	n/a	n/a
16	BATF	chr5:154134445-154134818	GM12878	blood:	n/a	n/a
17	BCL11A	chr5:154134485-154134737	GM12878	blood:	n/a	n/a
18	BCL3	chr5:154134363-154134735	GM12878	blood:	n/a	n/a
19	BCL3	chr5:154134118-154134764	A549	lung:	n/a	chr5:154134281-154134294
20	BCL3	chr5:154134215-154134828	A549	lung:	n/a	chr5:154134281-154134294
21	BCL3	chr5:154135672-154136550	A549	lung:	n/a	chr5:154136514-154136523
22	BCLAF1	chr5:154134300-154134925	K562	blood:	n/a	n/a
23	BCLAF1	chr5:154134062-154134927	GM12878	blood:	n/a	chr5:154134281-154134294
24	BCLAF1	chr5:154136592-154137021	GM12878	blood:	n/a	n/a
25	BCLAF1	chr5:154136627-154137074	GM12878	blood:	n/a	n/a
26	BCLAF1	chr5:154135741-154136357	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:154134281-154134939	HepG2	liver:	n/a	chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
28	BHLHE40	chr5:154134369-154134849	A549	lung:	n/a	chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
29	BHLHE40	chr5:154134458-154134749	HepG2	liver:	n/a	chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
30	BHLHE40	chr5:154136253-154136969	HepG2	liver:	n/a	n/a
31	BHLHE40	chr5:154133828-154135379	GM12878	blood:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
32	BHLHE40	chr5:154134458-154134756	HepG2	liver:	n/a	chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
33	BHLHE40	chr5:154133341-154135524	K562	blood:	n/a	chr5:154134276-154134292 chr5:154134658-154134667 chr5:154134658-154134667 chr5:154134657-154134666
34	BHLHE40	chr5:154135782-154137314	GM12878	blood:	n/a	n/a
35	BHLHE40	chr5:154135749-154137241	K562	blood:	n/a	n/a
36	BRCA1	chr5:154134299-154134933	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr5:154133941-154134873	K562	blood:	n/a	n/a
38	CBX3	chr5:154134016-154134766	K562	blood:	n/a	n/a
39	CCNT2	chr5:154134031-154137168	K562	blood:	n/a	chr5:154134385-154134394 chr5:154134732-154134741 chr5:154135811-154135820
40	CEBPB	chr5:154134164-154134940	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr5:154134433-154134810	MCF-7	breast:	n/a	n/a
42	CEBPB	chr5:154134495-154134780	A549	lung:	n/a	n/a
43	CEBPB	chr5:154134465-154134842	HepG2	liver:	n/a	n/a
44	CEBPB	chr5:154134280-154134840	K562	blood:	n/a	n/a
45	CEBPB	chr5:154134439-154134740	HepG2	liver:	n/a	n/a
46	CEBPB	chr5:154134555-154134709	K562	blood:	n/a	n/a
47	CEBPB	chr5:154134312-154134908	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr5:154134423-154134801	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr5:154134237-154134947	HepG2	liver:	n/a	n/a
50	CEBPB	chr5:154134379-154134814	H1-hESC	embryonic stem cell:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:154134051-154134101	HAEpiC	amniotic membrane:	n/a
2	chr5:154134051-154134101	HL-60	blood:	n/a
3	chr5:154135170-154135220	GM12878	blood:	n/a
4	chr5:154136254-154136304	HIPEpiC	eye:	n/a
5	chr5:154135052-154135102	BJ	skin:	n/a
6	chr5:154136136-154136186	IMR90	lung:	fetal
7	chr5:154136254-154136304	HRPEpiC	eye:	n/a
8	chr5:154135052-154135102	NH-A	brain:	n/a
9	chr5:154135052-154135102	AG09309	skin:	n/a
10	chr5:154134737-154134787	U87	brain:	n/a
11	chr5:154134737-154134787	MCF-7	breast:	n/a
12	chr5:154135052-154135102	ovcar-3	ovarian:	n/a
13	chr5:154135170-154135220	PFSK-1	brain:	n/a
14	chr5:154135170-154135220	Caco-2	colon:	n/a
15	chr5:154136136-154136186	HMEC	breast:	n/a
16	chr5:154134507-154134557	Caco-2	colon:	n/a
17	chr5:154136254-154136304	HepG2	liver:	n/a
18	chr5:154135052-154135102	HCF	heart:	n/a
19	chr5:154135052-154135102	T-47D	breast:	n/a
20	chr5:154136136-154136186	BE2_C	brain:	n/a
21	chr5:154135170-154135220	NHDF-neo	bronchial:	n/a
22	chr5:154136254-154136304	HEEpiC	esophagus:	n/a
23	chr5:154134737-154134787	HRE	kidney:	n/a
24	chr5:154135052-154135102	GM12891	blood:	n/a
25	chr5:154136136-154136186	BJ	skin:	n/a
26	chr5:154134737-154134787	K562	blood:	n/a
27	chr5:154136136-154136186	SK-N-SH	brain:	n/a
28	chr5:154135052-154135102	NHBE	bronchial:	n/a
29	chr5:154135052-154135102	Hepatocyte	liver:	n/a
30	chr5:154135052-154135102	HEK293	kidney:	embryo
31	chr5:154135052-154135102	AG10803	skin:	n/a
32	chr5:154134507-154134557	GM12891	blood:	n/a
33	chr5:154135170-154135220	HAEpiC	amniotic membrane:	n/a
34	chr5:154136254-154136304	ovcar-3	ovarian:	n/a
35	chr5:154134051-154134101	HCT-116	colon:	n/a
36	chr5:154135052-154135102	ProgFib	skin:	n/a
37	chr5:154134051-154134101	Hela-S3	cervix:	n/a
38	chr5:154134507-154134557	MCF-7	breast:	n/a
39	chr5:154134507-154134557	ovcar-3	ovarian:	n/a
40	chr5:154135052-154135102	Jurkat	blood:	n/a
41	chr5:154134051-154134101	NT2-D1	testis:	n/a
42	chr5:154135170-154135220	GM06990	blood:	n/a
43	chr5:154135052-154135102	HIPEpiC	eye:	n/a
44	chr5:154136254-154136304	HNPCEpiC	eye:	n/a
45	chr5:154135052-154135102	HCPEpiC	choroid plexus:	n/a
46	chr5:154136136-154136186	GM12891	blood:	n/a
47	chr5:154136254-154136304	Jurkat	blood:	n/a
48	chr5:154135052-154135102	HEEpiC	esophagus:	n/a
49	chr5:154134507-154134557	HCT-116	colon:	n/a
50	chr5:154134051-154134101	HCPEpiC	choroid plexus:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154106800..154109528-chr5:154133013..154134653,2	K562	blood:
2	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
3	chr5:154120997..154122721-chr5:154132198..154134766,2	K562	blood:
4	chr19:34286193..34287142-chr5:154134023..154134959,2	Hela-S3	cervix:
5	chr5:154059571..154067369-chr5:154132796..154138140,13	K562	blood:
6	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
7	chr5:154133598..154138734-chr5:154235660..154239806,12	K562	blood:
8	chr5:154134100..154134844-chr7:112758082..112758656,2	Hela-S3	cervix:
9	chr5:154054874..154057570-chr5:154132622..154134440,2	MCF-7	breast:
10	chr5:154133384..154135677-chr5:154316370..154317979,2	MCF-7	breast:
11	chr5:154133665..154137234-chr5:154235811..154241105,6	MCF-7	breast:
12	chr5:154133833..154138436-chr5:154316104..154319386,7	K562	blood:
13	chr5:154134478..154136259-chr5:156568877..156571318,2	K562	blood:
14	chr5:154133720..154135863-chr5:154214585..154216471,2	K562	blood:
15	chr5:154114978..154117402-chr5:154132990..154134533,2	MCF-7	breast:
16	chr5:154133318..154137368-chr5:154208082..154212477,8	MCF-7	breast:
17	chr5:154090008..154095548-chr5:154132332..154137735,10	MCF-7	breast:
18	chr1:161369209..161370167-chr5:154134118..154134820,2	Hela-S3	cervix:
19	chr5:154135101..154137187-chr5:154183739..154185409,2	MCF-7	breast:
20	chr5:154122459..154125303-chr5:154131772..154134458,2	MCF-7	breast:
21	chr15:93351261..93351942-chr5:154134569..154135490,2	Hela-S3	cervix:
22	chr5:154133224..154141155-chr5:154235246..154242227,24	MCF-7	breast:
23	chr5:154134637..154137206-chr5:154228501..154230611,2	MCF-7	breast:
24	chr5:154131390..154134045-chr5:154222442..154224295,2	MCF-7	breast:
25	chr17:59475759..59478103-chr5:154134019..154136422,2	MCF-7	breast:
26	chr5:154134362..154135956-chr5:179498285..179499281,4	HCT-116	colon:
27	chr5:154059219..154066449-chr5:154131053..154139153,28	MCF-7	breast:
28	chr5:154091014..154094062-chr5:154133007..154138054,7	MCF-7	breast:
29	chr5:154107670..154109549-chr5:154132494..154135385,2	MCF-7	breast:
30	chr11:118955268..118955808-chr5:154134105..154134835,2	HCT-116	colon:
31	chr17:39844723..39845400-chr5:154133976..154134932,2	Hela-S3	cervix:
32	chr5:154133563..154137747-chr5:154235219..154239187,9	K562	blood:
33	chr5:154133441..154135046-chr5:154198681..154200668,2	MCF-7	breast:
34	chr5:154134899..154136801-chr5:154190010..154191609,2	K562	blood:
35	chr2:241937634..241938153-chr5:154134116..154135051,2	MCF-7	breast:
36	chr2:241938134..241939654-chr5:154133580..154135809,2	K562	blood:
37	chr5:154108106..154110806-chr5:154133073..154135320,2	K562	blood:
38	chr1:149857405..149859778-chr5:154134028..154135572,2	MCF-7	breast:
39	chr5:154092401..154094147-chr5:154134615..154136737,2	K562	blood:
40	chr5:154079413..154083903-chr5:154131964..154138437,9	MCF-7	breast:

No data

Variant related genes	Relation type
LARP1	TF binding region
LARP1	CpG island
ENSG00000113263	chromatin interactions
ENSG00000135077	chromatin interactions
ENSG00000153885	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000263361	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000258922	chromatin interactions
ENSG00000170271	chromatin interactions
ENSG00000162804	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000155506	chromatin interactions
ENSG00000155508	chromatin interactions
ENSG00000256269	chromatin interactions
ENSG00000155868	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000082516	chromatin interactions
ENSG00000241187	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000214194	chromatin interactions
ENSG00000221552	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000263478	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551311243	chr5:154133830-154133831	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs185949233	chr5:154133884-154133885	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs4958389	chr5:154133894-154133895	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs530671814	chr5:154133912-154133913	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs148789478	chr5:154133999-154134000	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs369677005	chr5:154134027-154134028	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs567158606	chr5:154134089-154134090	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs548980604	chr5:154134112-154134113	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs536005949	chr5:154134171-154134172	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
10	rs541484790	chr5:154134179-154134180	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs559605903	chr5:154134184-154134185	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs527437412	chr5:154134185-154134186	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs545680148	chr5:154134226-154134227	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs566380185	chr5:154134276-154134277	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs191540100	chr5:154134278-154134279	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
16	rs558947651	chr5:154134284-154134285	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
17	rs559299619	chr5:154134352-154134353	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs575543484	chr5:154134358-154134359	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs544723716	chr5:154134367-154134368	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs554751497	chr5:154134379-154134380	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs575104212	chr5:154134414-154134415	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs55767292	chr5:154134418-154134419	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs560772279	chr5:154134420-154134421	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
24	rs532814861	chr5:154134497-154134498	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs373258230	chr5:154134507-154134508	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs564923174	chr5:154134531-154134532	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs530409408	chr5:154134535-154134536	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs150706944	chr5:154134622-154134623	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs566994134	chr5:154134637-154134638	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs72797590	chr5:154134687-154134688	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145121686	chr5:154134704-154134705	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs566317454	chr5:154134731-154134732	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs533509886	chr5:154134767-154134768	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs202019584	chr5:154134774-154134775	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs6580116	chr5:154134775-154134776	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs569271764	chr5:154134806-154134807	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs11416035	chr5:154134818-154134819	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs182922923	chr5:154134865-154134866	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs557408513	chr5:154134981-154134982	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs374080794	chr5:154135192-154135193	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs537818358	chr5:154135242-154135243	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs188723605	chr5:154135246-154135247	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs78112077	chr5:154135386-154135387	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs534402905	chr5:154135455-154135456	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs554446857	chr5:154135474-154135475	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs550190488	chr5:154135563-154135564	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs546510316	chr5:154135615-154135616	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs367570056	chr5:154135634-154135635	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs191985333	chr5:154135652-154135653	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs374889905	chr5:154135679-154135680	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154129200-154134000	Weak transcription	Aorta	Aorta
2	chr5:154132000-154134200	Enhancers	HepG2	liver
3	chr5:154132400-154133800	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:154132600-154133800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:154132600-154133800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:154132600-154133800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:154132600-154133800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:154132600-154133800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:154132600-154133800	Enhancers	Fetal Muscle Leg	muscle
10	chr5:154132600-154133800	Enhancers	Fetal Stomach	stomach
11	chr5:154132600-154133800	Enhancers	Right Ventricle	heart
12	chr5:154132600-154134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:154132600-154134000	Enhancers	Left Ventricle	heart
14	chr5:154132600-154134000	Enhancers	Pancreas	Pancrea
15	chr5:154132600-154134200	Enhancers	Gastric	stomach
16	chr5:154132600-154134600	Enhancers	Fetal Heart	heart
17	chr5:154132800-154133800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:154132800-154133800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:154132800-154133800	Enhancers	Fetal Intestine Large	intestine
20	chr5:154132800-154134000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:154132800-154134000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:154132800-154134000	Enhancers	Liver	Liver
23	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:154133000-154133800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:154133000-154133800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:154133000-154133800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:154133000-154133800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:154133000-154133800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:154133000-154133800	Enhancers	Fetal Intestine Small	intestine
30	chr5:154133000-154133800	Enhancers	Right Atrium	heart
31	chr5:154133000-154133800	Enhancers	NHDF-Ad	bronchial
32	chr5:154133000-154134000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:154133000-154134000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:154133000-154134000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:154133000-154134000	Flanking Active TSS	GM12878-XiMat	blood
36	chr5:154133000-154134200	Flanking Active TSS	Fetal Lung	lung
37	chr5:154133000-154134200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:154133000-154134400	Flanking Active TSS	K562	blood
39	chr5:154133000-154134600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:154133000-154134600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr5:154133200-154133800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:154133200-154133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:154133200-154133800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:154133200-154133800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:154133200-154133800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:154133200-154133800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:154133200-154133800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:154133200-154133800	Enhancers	Colonic Mucosa	Colon
49	chr5:154133200-154133800	Enhancers	Fetal Thymus	thymus
50	chr5:154133200-154133800	Enhancers	Thymus	Thymus

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