Variant report

Variant	esv3405761
Chromosome Location	chr1:150945953-150948501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:384)
CpG islands
(count:856)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:150947379-150947615	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:150947821-150947929	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr1:150946507-150946909	GM12878	blood:	n/a	chr1:150946825-150946838 chr1:150946761-150946774
4	BHLHE40	chr1:150947441-150947482	K562	blood:	n/a	n/a
5	BHLHE40	chr1:150946168-150946594	HepG2	liver:	n/a	n/a
6	BHLHE40	chr1:150946091-150946321	K562	blood:	n/a	chr1:150946104-150946120
7	CCNT2	chr1:150946187-150947970	K562	blood:	n/a	chr1:150947425-150947434 chr1:150947112-150947121
8	CEBPB	chr1:150946493-150946528	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPD	chr1:150947059-150947443	HepG2	liver:	n/a	n/a
10	CHD1	chr1:150946424-150946670	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr1:150947476-150947544	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr1:150946895-150947064	GM12878	blood:	n/a	n/a
13	CHD1	chr1:150946154-150946391	GM12878	blood:	n/a	n/a
14	CHD2	chr1:150946463-150946675	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr1:150947375-150947515	HepG2	liver:	n/a	n/a
16	CHD2	chr1:150947830-150947887	K562	blood:	n/a	n/a
17	CHD2	chr1:150946097-150946240	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr1:150946130-150946316	K562	blood:	n/a	n/a
19	CHD2	chr1:150947239-150947377	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr1:150947048-150947585	A549	lung:	n/a	n/a
21	CTCF	chr1:150946829-150946925	GM19240	blood:	n/a	n/a
22	CTCF	chr1:150945960-150946110	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr1:150946869-150947083	GM12878	blood:	n/a	n/a
24	CTCF	chr1:150946878-150947208	K562	blood:	n/a	n/a
25	CTCF	chr1:150946812-150946862	GM12892	blood:	n/a	n/a
26	CTCF	chr1:150946928-150946932	GM19240	blood:	n/a	n/a
27	CTCF	chr1:150946890-150946974	GM10266	blood:	n/a	n/a
28	CTCF	chr1:150946780-150946930	GM12869	blood:	n/a	n/a
29	CTCF	chr1:150946840-150946990	GM12864	blood:	n/a	n/a
30	CTCF	chr1:150946760-150946910	GM12873	blood:	n/a	n/a
31	CTCF	chr1:150947680-150947830	GM12872	blood:	n/a	n/a
32	CTCF	chr1:150945860-150946010	SAEC	small airway:	n/a	n/a
33	CTCF	chr1:150946260-150946410	GM12873	blood:	n/a	n/a
34	CTCF	chr1:150946760-150946910	GM12865	blood:	n/a	n/a
35	CTCF	chr1:150946680-150946830	SAEC	small airway:	n/a	n/a
36	CTCF	chr1:150946780-150946930	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr1:150946100-150946250	GM12875	blood:	n/a	chr1:150946188-150946201
38	CTCF	chr1:150947640-150947790	GM12873	blood:	n/a	n/a
39	CTCF	chr1:150946720-150946870	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr1:150946600-150946750	GM12867	blood:	n/a	n/a
41	CTCF	chr1:150946680-150946830	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr1:150946780-150946930	GM12878	blood:	n/a	n/a
43	CTCF	chr1:150946800-150946950	HMEC	breast:	n/a	n/a
44	CTCF	chr1:150946908-150946955	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:150946762-150946951	GM19238	blood:	n/a	n/a
46	CTCF	chr1:150946460-150946610	BJ	skin:	n/a	n/a
47	CTCF	chr1:150946800-150946950	GM12875	blood:	n/a	n/a
48	CTCF	chr1:150946910-150946956	GM13977	blood:	n/a	n/a
49	CTCF	chr1:150946180-150946330	GM12872	blood:	n/a	chr1:150946188-150946201
50	CTCF	chr1:150946880-150947030	GM12870	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150946396-150946446	HCPEpiC	choroid plexus:	n/a
2	chr1:150947832-150947882	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:150946396-150946446	HCPEpiC	choroid plexus:	n/a
4	chr1:150947832-150947882	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:150947832-150947882	MCF10A-Er-Src	breast:	n/a
6	chr1:150947589-150947639	HRE	kidney:	n/a
7	chr1:150946674-150946724	HMEC	breast:	n/a
8	chr1:150948024-150948074	GM12892	blood:	n/a
9	chr1:150947832-150947882	HEEpiC	esophagus:	n/a
10	chr1:150947896-150947946	AG04450	lung:	fetal
11	chr1:150946023-150946073	HUVEC	blood vessel:	n/a
12	chr1:150947832-150947882	NH-A	brain:	n/a
13	chr1:150946971-150947021	HIPEpiC	eye:	n/a
14	chr1:150947442-150947492	MCF10A-Er-Src	breast:	n/a
15	chr1:150946674-150946724	SK-N-MC	brain:	n/a
16	chr1:150946396-150946446	T-47D	breast:	n/a
17	chr1:150946396-150946446	PrEC	prostate:	n/a
18	chr1:150948030-150948080	BE2_C	brain:	n/a
19	chr1:150946023-150946073	HNPCEpiC	eye:	n/a
20	chr1:150948024-150948074	AG10803	skin:	n/a
21	chr1:150947566-150947616	GM12878	blood:	n/a
22	chr1:150946023-150946073	HCT-116	colon:	n/a
23	chr1:150947832-150947882	HL-60	blood:	n/a
24	chr1:150947832-150947882	HCPEpiC	choroid plexus:	n/a
25	chr1:150947896-150947946	GM12878	blood:	n/a
26	chr1:150947949-150947999	NT2-D1	testis:	n/a
27	chr1:150946971-150947021	NH-A	brain:	n/a
28	chr1:150946396-150946446	HL-60	blood:	n/a
29	chr1:150947589-150947639	HAEpiC	amniotic membrane:	n/a
30	chr1:150948030-150948080	BJ	skin:	n/a
31	chr1:150947566-150947616	AG09319	gingival:	n/a
32	chr1:150947589-150947639	HCF	heart:	n/a
33	chr1:150947403-150947453	HepG2	liver:	n/a
34	chr1:150946674-150946724	AG10803	skin:	n/a
35	chr1:150947442-150947492	LNCaP	prostate:	n/a
36	chr1:150946971-150947021	AG09309	skin:	n/a
37	chr1:150947587-150947637	T-47D	breast:	n/a
38	chr1:150947566-150947616	HCM	heart:	n/a
39	chr1:150947587-150947637	HCM	heart:	n/a
40	chr1:150946971-150947021	SK-N-MC	brain:	n/a
41	chr1:150947589-150947639	Jurkat	blood:	n/a
42	chr1:150946971-150947021	AG04450	lung:	fetal
43	chr1:150948030-150948080	PrEC	prostate:	n/a
44	chr1:150947949-150947999	U87	brain:	n/a
45	chr1:150946396-150946446	HUVEC	blood vessel:	n/a
46	chr1:150947896-150947946	GM12892	blood:	n/a
47	chr1:150947566-150947616	HNPCEpiC	eye:	n/a
48	chr1:150946674-150946724	GM19239	blood:	n/a
49	chr1:150948024-150948074	AG04449	skin:	fetal
50	chr1:150947589-150947639	HEK293	kidney:	embryo

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:
2	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
3	chr1:150946695..150947428-chr11:64052228..64052944,2	Hela-S3	cervix:
4	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
5	chr1:150948040..150949859-chr1:150959159..150961414,2	K562	blood:
6	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
7	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
8	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
9	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
10	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
11	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
12	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
13	chr1:150946206..150948952-chr1:151031959..151033620,2	K562	blood:
14	chr1:150550324..150553500-chr1:150948263..150951593,4	MCF-7	breast:
15	chr1:150897410..150899179-chr1:150947492..150949288,2	K562	blood:
16	chr1:150802146..150804523-chr1:150946488..150948912,2	MCF-7	breast:
17	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
18	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
19	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
20	chr1:150945380..150948952-chr1:151032100..151034454,3	K562	blood:
21	chr1:150800839..150803595-chr1:150945444..150947443,2	K562	blood:
22	chr1:150549534..150551689-chr1:150945917..150947994,2	MCF-7	breast:
23	chr1:150897410..150900366-chr1:150947492..150952156,4	K562	blood:
24	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:
25	chr1:150897692..150900384-chr1:150944923..150947345,3	K562	blood:
26	chr1:150946136..150947648-chr1:151031480..151034167,2	MCF-7	breast:
27	chr1:150946897..150947894-chr14:54863216..54863946,2	Hela-S3	cervix:
28	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
29	chr1:150601091..150602624-chr1:150945367..150947119,2	MCF-7	breast:
30	chr1:150942867..150944822-chr1:150945093..150947347,2	K562	blood:
31	chr1:150948448..150951342-chr1:151016605..151018874,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA9-1	chr1:150946381-150946479	ENSG00000231073.1
2	lnc-ANXA9-1	chr1:150947789-150948010	ENSG00000231073.1

No data

Variant related genes	Relation type
CERS2	TF binding region
CERS2	CpG island
ENSG00000143457	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000143420	chromatin interactions
ENSG00000143363	chromatin interactions
ENSG00000143443	chromatin interactions
ENSG00000143418	chromatin interactions
ENSG00000143458	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000143409	chromatin interactions
ENSG00000143437	chromatin interactions
ENSG00000197622	chromatin interactions
ENSG00000143401	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000100526	chromatin interactions
ENSG00000143379	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000163141	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57746902	chr1:150945980-150945981	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587758552	chr1:150945984-150945985	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs587644861	chr1:150946114-150946115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs587726371	chr1:150946139-150946140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs587603681	chr1:150946155-150946156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs587659014	chr1:150946175-150946176	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs375569318	chr1:150946246-150946247	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs587608845	chr1:150946261-150946262	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs587703779	chr1:150946273-150946274	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs41266599	chr1:150946346-150946347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs6677420	chr1:150946490-150946491	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185371868	chr1:150946498-150946499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs41266601	chr1:150946502-150946503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs587623634	chr1:150946537-150946538	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs587682564	chr1:150946573-150946574	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs12027075	chr1:150946584-150946585	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs374364974	chr1:150946620-150946621	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs587637746	chr1:150946637-150946638	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs587713295	chr1:150946674-150946675	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs76219348	chr1:150946690-150946691	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs374817656	chr1:150946696-150946697	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs587678843	chr1:150946793-150946794	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs587768564	chr1:150946909-150946910	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs587645085	chr1:150946976-150946977	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs587703995	chr1:150946983-150946984	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs587761931	chr1:150947058-150947059	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs587653156	chr1:150947060-150947061	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs587710553	chr1:150947076-150947077	Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs11549412	chr1:150947256-150947257	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	mRNA abundance
30	rs587605411	chr1:150947293-150947294	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs587644291	chr1:150947332-150947333	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs587701617	chr1:150947365-150947366	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs587625468	chr1:150947370-150947371	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs150931532	chr1:150947387-150947388	Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs587764515	chr1:150947442-150947443	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs587594679	chr1:150947488-150947489	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs587663893	chr1:150947506-150947507	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs587727326	chr1:150947550-150947551	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs587625156	chr1:150947673-150947674	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs587690159	chr1:150947678-150947679	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs7535032	chr1:150947745-150947746	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs369826917	chr1:150947843-150947844	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
43	rs61293201	chr1:150947886-150947887	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
44	rs587624318	chr1:150947894-150947895	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
45	rs111295245	chr1:150947976-150947977	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
46	rs587757697	chr1:150948029-150948030	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs587634609	chr1:150948063-150948064	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs587685054	chr1:150948181-150948182	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs587751084	chr1:150948208-150948209	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs587641494	chr1:150948234-150948235	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150942800-150946000	Flanking Active TSS	Liver	Liver
2	chr1:150942800-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:150943000-150946000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:150943000-150946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:150943200-150946000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:150943200-150946200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:150943200-150946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr1:150943200-150946400	Flanking Active TSS	Osteobl	bone
9	chr1:150943400-150946000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:150943400-150946000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:150943400-150946000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr1:150943400-150946000	Flanking Active TSS	NHLF	lung
13	chr1:150943400-150946200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:150943400-150946200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:150943400-150946200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr1:150943400-150946400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:150943400-150946400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr1:150943400-150946400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:150943400-150946400	Transcr. at gene 5' and 3'	K562	blood
20	chr1:150943400-150946400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:150943400-150946600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:150943600-150946000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:150943800-150946000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:150944000-150946000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:150944000-150946000	Enhancers	Small Intestine	intestine
26	chr1:150944000-150946400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr1:150944200-150946000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:150944200-150946000	Flanking Active TSS	Hela-S3	cervix
29	chr1:150944200-150946200	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr1:150944200-150946200	Flanking Active TSS	Fetal Lung	lung
31	chr1:150944200-150946200	Enhancers	Stomach Mucosa	stomach
32	chr1:150944200-150946400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr1:150944200-150946600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:150944200-150946600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr1:150944400-150946200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:150944400-150946200	Flanking Active TSS	NH-A	brain
37	chr1:150944400-150946400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:150944400-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:150944400-150946400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:150944400-150946400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr1:150944400-150946400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:150944400-150946600	Flanking Active TSS	Fetal Brain Female	brain
43	chr1:150944400-150946800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:150944600-150946200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:150944600-150946400	Flanking Active TSS	GM12878-XiMat	blood
46	chr1:150944600-150946600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:150944800-150946000	Flanking Active TSS	Fetal Heart	heart
48	chr1:150944800-150946400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:150945000-150946000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:150945000-150946200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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