Variant report

Variant	esv3393715
Chromosome Location	chr1:151430153-151433301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:778)
CpG islands
(count:674)
Chromatin interactive
region (count:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:151431846-151432139	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:151431901-151432274	K562	blood:	n/a	n/a
3	ARID3A	chr1:151430637-151431016	K562	blood:	n/a	n/a
4	ARID3A	chr1:151430502-151431007	HepG2	liver:	n/a	n/a
5	ATF1	chr1:151431794-151432338	K562	blood:	n/a	n/a
6	ATF2	chr1:151431923-151432608	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:151431858-151432211	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:151430456-151431089	A549	lung:	n/a	n/a
9	ATF3	chr1:151431720-151432333	A549	lung:	n/a	chr1:151431844-151431853
10	BACH1	chr1:151432451-151432677	K562	blood:	n/a	n/a
11	BACH1	chr1:151431236-151431276	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr1:151430473-151430777	GM12878	blood:	n/a	n/a
13	BCL3	chr1:151431769-151432576	A549	lung:	n/a	chr1:151431978-151431987 chr1:151431845-151431854 chr1:151431843-151431856
14	BCL3	chr1:151430380-151431058	A549	lung:	n/a	n/a
15	BCL3	chr1:151430370-151431053	A549	lung:	n/a	n/a
16	BCLAF1	chr1:151430392-151431035	GM12878	blood:	n/a	n/a
17	BCLAF1	chr1:151431740-151432240	GM12878	blood:	n/a	chr1:151431978-151431987 chr1:151431845-151431854 chr1:151431843-151431856
18	BCLAF1	chr1:151430413-151431064	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:151430474-151430920	GM12878	blood:	n/a	chr1:151430779-151430795
20	BHLHE40	chr1:151431517-151431614	K562	blood:	n/a	n/a
21	BHLHE40	chr1:151432313-151432584	K562	blood:	n/a	n/a
22	BHLHE40	chr1:151431889-151432100	K562	blood:	n/a	n/a
23	BHLHE40	chr1:151431886-151432240	GM12878	blood:	n/a	n/a
24	BRCA1	chr1:151430586-151430976	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:151431837-151432542	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:151431881-151432057	GM12878	blood:	n/a	n/a
27	CBX3	chr1:151431758-151432558	K562	blood:	n/a	n/a
28	CBX3	chr1:151431813-151432550	HCT-116	colon:	n/a	n/a
29	CCNT2	chr1:151431231-151432097	K562	blood:	n/a	chr1:151431844-151431853 chr1:151431591-151431600 chr1:151431721-151431730 chr1:151431868-151431877
30	CEBPB	chr1:151430712-151431073	A549	lung:	n/a	chr1:151430946-151430959
31	CEBPB	chr1:151430770-151431109	K562	blood:	n/a	chr1:151430946-151430959
32	CEBPB	chr1:151430784-151431110	IMR90	lung:	n/a	chr1:151430946-151430959
33	CEBPB	chr1:151430447-151431142	Hela-S3	cervix:	n/a	chr1:151430946-151430959
34	CEBPB	chr1:151430771-151431075	ECC-1	luminal epithelium:	n/a	chr1:151430946-151430959
35	CEBPB	chr1:151431883-151432084	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr1:151430604-151431097	A549	lung:	n/a	chr1:151430946-151430959
37	CEBPB	chr1:151430384-151431100	MCF-7	breast:	n/a	chr1:151430946-151430959
38	CEBPB	chr1:151430603-151431120	A549	lung:	n/a	chr1:151430946-151430959
39	CEBPB	chr1:151430824-151431099	HepG2	liver:	n/a	chr1:151430946-151430959
40	CEBPB	chr1:151430587-151431042	H1-hESC	embryonic stem cell:	n/a	chr1:151430946-151430959
41	CEBPB	chr1:151430810-151431066	K562	blood:	n/a	chr1:151430946-151430959
42	CEBPB	chr1:151430742-151431074	K562	blood:	n/a	chr1:151430946-151430959
43	CEBPD	chr1:151431459-151432112	HepG2	liver:	n/a	n/a
44	CEBPD	chr1:151431348-151432018	K562	blood:	n/a	n/a
45	CEBPD	chr1:151431836-151432031	HepG2	liver:	n/a	n/a
46	CEBPD	chr1:151430981-151431434	HepG2	liver:	n/a	n/a
47	CHD1	chr1:151430521-151431005	GM12878	blood:	n/a	n/a
48	CHD1	chr1:151431614-151431699	GM12878	blood:	n/a	n/a
49	CHD1	chr1:151430579-151431005	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr1:151430237-151431126	IMR90	lung:	n/a	chr1:151431037-151431047

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151431477-151431527	SAEC	small airway:	n/a
2	chr1:151432024-151432074	GM19239	blood:	n/a
3	chr1:151432386-151432436	NB4	blood:	n/a
4	chr1:151431477-151431527	SAEC	small airway:	n/a
5	chr1:151432024-151432074	GM19239	blood:	n/a
6	chr1:151432386-151432436	NB4	blood:	n/a
7	chr1:151431765-151431815	T-47D	breast:	n/a
8	chr1:151430878-151430928	NB4	blood:	n/a
9	chr1:151431765-151431815	HRCEpiC	kidney:	n/a
10	chr1:151431849-151431899	PrEC	prostate:	n/a
11	chr1:151431931-151431981	HRCEpiC	kidney:	n/a
12	chr1:151431849-151431899	MCF-7	breast:	n/a
13	chr1:151431750-151431800	U87	brain:	n/a
14	chr1:151431849-151431899	NB4	blood:	n/a
15	chr1:151431750-151431800	ECC-1	luminal epithelium:	n/a
16	chr1:151433222-151433272	SK-N-SH_RA	brain:	n/a
17	chr1:151433222-151433272	ovcar-3	ovarian:	n/a
18	chr1:151431750-151431800	HCF	heart:	n/a
19	chr1:151430878-151430928	Jurkat	blood:	n/a
20	chr1:151431477-151431527	NB4	blood:	n/a
21	chr1:151432001-151432051	HNPCEpiC	eye:	n/a
22	chr1:151430878-151430928	CMK	blood:	n/a
23	chr1:151430492-151430542	HRPEpiC	eye:	n/a
24	chr1:151431750-151431800	NHBE	bronchial:	n/a
25	chr1:151431849-151431899	SKMC	muscle:	n/a
26	chr1:151431931-151431981	ProgFib	skin:	n/a
27	chr1:151432001-151432051	NH-A	brain:	n/a
28	chr1:151431477-151431527	GM12891	blood:	n/a
29	chr1:151431765-151431815	MCF10A-Er-Src	breast:	n/a
30	chr1:151433222-151433272	U87	brain:	n/a
31	chr1:151431750-151431800	ProgFib	skin:	n/a
32	chr1:151430492-151430542	HIPEpiC	eye:	n/a
33	chr1:151430492-151430542	HCF	heart:	n/a
34	chr1:151430878-151430928	HCPEpiC	choroid plexus:	n/a
35	chr1:151432386-151432436	SK-N-SH_RA	brain:	n/a
36	chr1:151431931-151431981	AG09319	gingival:	n/a
37	chr1:151431849-151431899	HCF	heart:	n/a
38	chr1:151432001-151432051	HEEpiC	esophagus:	n/a
39	chr1:151430492-151430542	H1-hESC	embryonic stem cell:	embryo
40	chr1:151432024-151432074	IMR90	lung:	fetal
41	chr1:151432386-151432436	GM06990	blood:	n/a
42	chr1:151433222-151433272	HepG2	liver:	n/a
43	chr1:151431931-151431981	NT2-D1	testis:	n/a
44	chr1:151432001-151432051	BE2_C	brain:	n/a
45	chr1:151433222-151433272	A549	lung:	n/a
46	chr1:151431931-151431981	GM12892	blood:	n/a
47	chr1:151432024-151432074	BE2_C	brain:	n/a
48	chr1:151431765-151431815	AoSMC	blood vessel:	n/a
49	chr1:151431477-151431527	U87	brain:	n/a
50	chr1:151431849-151431899	NHDF-neo	bronchial:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
2	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
3	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
4	chr1:151431053..151431553-chr17:58677030..58677825,2	Hela-S3	cervix:
5	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
6	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
7	chr1:151430847..151432842-chr1:151517384..151519921,3	MCF-7	breast:
8	chr1:151429853..151431454-chr1:151735705..151737586,2	K562	blood:
9	chr1:151431956..151432631-chr1:151707245..151708154,2	K562	blood:
10	chr1:151270824..151272634-chr1:151430532..151433338,2	MCF-7	breast:
11	chr1:151429154..151431370-chr1:151947208..151949850,2	MCF-7	breast:
12	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
13	chr1:151431532..151432112-chr12:49524837..49525486,2	Hela-S3	cervix:
14	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
15	chr1:151431826..151434593-chr1:151511133..151514053,3	K562	blood:
16	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
17	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
18	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
19	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
20	chr1:151430961..151432798-chr1:151585667..151587321,2	MCF-7	breast:
21	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
22	chr1:151371183..151372890-chr1:151431011..151433472,2	MCF-7	breast:
23	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
24	chr1:151387420..151389134-chr1:151433019..151434724,2	K562	blood:
25	chr1:151431169..151432846-chr1:151517361..151519624,3	MCF-7	breast:
26	chr1:151428333..151430220-chr1:151430244..151432504,3	K562	blood:
27	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
28	chr1:151225884..151227392-chr1:151432640..151434874,2	K562	blood:
29	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
30	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
31	chr1:151430443..151432675-chr1:151490998..151493520,3	MCF-7	breast:
32	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
33	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
34	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:
35	chr1:151430773..151431560-chr9:34646425..34647313,2	HCT-116	colon:
36	chr1:151431597..151432191-chr2:20850459..20851110,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-2	chr1:151429179-151430776	NONHSAT006396

No data

Variant related genes	Relation type
POGZ	TF binding region
POGZ	CpG island
ENSG00000232536	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000178796	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000159352	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000258728	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000213930	chromatin interactions
ENSG00000250734	chromatin interactions
ENSG00000118960	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000143367	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562765790	chr1:151430190-151430191	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs530112883	chr1:151430239-151430240	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs532913027	chr1:151430240-151430241	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs546287664	chr1:151430264-151430265	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
5	rs141011695	chr1:151430293-151430294	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
6	rs528583252	chr1:151430335-151430336	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
7	rs546795146	chr1:151430382-151430383	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
8	rs34068254	chr1:151430419-151430420	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs181884824	chr1:151430497-151430498	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
10	rs12071705	chr1:151430504-151430505	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs531254006	chr1:151430538-151430539	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
12	rs551248939	chr1:151430565-151430566	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
13	rs571068493	chr1:151430618-151430619	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
14	rs150208460	chr1:151430619-151430620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
15	rs560111138	chr1:151430650-151430651	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
16	rs566475472	chr1:151430689-151430690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs375440175	chr1:151430696-151430697	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
18	rs12068166	chr1:151430704-151430705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs145710816	chr1:151430709-151430710	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
20	rs148920940	chr1:151430718-151430719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
21	rs144897133	chr1:151430732-151430733	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
22	rs113367689	chr1:151430749-151430750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
23	rs12029691	chr1:151430755-151430756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs577506894	chr1:151430764-151430765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
25	rs374201287	chr1:151430768-151430769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
26	rs531653612	chr1:151430774-151430775	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
27	rs76814960	chr1:151430795-151430796	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs370520528	chr1:151430820-151430821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs536532085	chr1:151430862-151430863	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs186441298	chr1:151430870-151430871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs200954616	chr1:151430886-151430887	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs562067165	chr1:151430893-151430894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs188905186	chr1:151430947-151430948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs550986909	chr1:151430953-151430954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs145498930	chr1:151430967-151430968	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs535532423	chr1:151430983-151430984	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs553561964	chr1:151431012-151431013	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs201563827	chr1:151431020-151431021	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs112526645	chr1:151431049-151431050	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs546914556	chr1:151431054-151431055	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs567017499	chr1:151431093-151431094	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs113342149	chr1:151431097-151431098	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs185381131	chr1:151431222-151431223	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs535216916	chr1:151431424-151431425	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs550552322	chr1:151431489-151431490	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs548618249	chr1:151431581-151431582	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs568518823	chr1:151431590-151431591	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs537488462	chr1:151431593-151431594	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs557328112	chr1:151431595-151431596	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs12125310	chr1:151431632-151431633	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151428400-151430200	Enhancers	Fetal Lung	lung
4	chr1:151429200-151430400	Enhancers	Stomach Mucosa	stomach
5	chr1:151429200-151430400	Enhancers	Spleen	Spleen
6	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
7	chr1:151429400-151430200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151429400-151430200	Flanking Active TSS	Hela-S3	cervix
9	chr1:151429400-151430400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:151429400-151430400	Enhancers	Fetal Heart	heart
11	chr1:151429400-151430400	Enhancers	Placenta	Placenta
12	chr1:151429400-151431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:151429600-151430200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151429600-151430200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:151429600-151430200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:151429600-151430200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:151429600-151430200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:151429600-151430200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:151429600-151430200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:151429600-151430200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:151429600-151430200	Flanking Active TSS	Liver	Liver
22	chr1:151429600-151430200	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr1:151429600-151430200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:151429600-151430200	Flanking Active TSS	Fetal Brain Male	brain
25	chr1:151429600-151430200	Flanking Active TSS	HMEC	breast
26	chr1:151429600-151430600	Flanking Active TSS	Left Ventricle	heart
27	chr1:151429600-151430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:151429600-151430800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:151429600-151430800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:151429600-151431000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:151429600-151432000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:151429800-151430200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:151429800-151430200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:151429800-151430200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:151429800-151430200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:151429800-151430200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:151429800-151430200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:151429800-151430200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr1:151429800-151430200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:151429800-151430200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:151429800-151430200	Flanking Active TSS	HSMMtube	muscle
42	chr1:151429800-151430200	Flanking Active TSS	NHEK	skin
43	chr1:151429800-151430400	Enhancers	Lung	lung
44	chr1:151429800-151430600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr1:151429800-151430600	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:151429800-151430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:151429800-151431000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr1:151429800-151431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:151429800-151431000	Active TSS	Right Atrium	heart
50	chr1:151429800-151431000	Flanking Active TSS	Dnd41	blood

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