Variant report

Variant	esv3325681
Chromosome Location	chr1:146713353-146715901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:969)
CpG islands
(count:1160)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:146714041-146714346	K562	blood:	n/a	n/a
2	ARID3A	chr1:146714675-146715315	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:146713843-146714402	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:146714567-146714720	K562	blood:	n/a	n/a
5	ATF2	chr1:146714518-146715204	GM12878	blood:	n/a	n/a
6	ATF2	chr1:146714074-146714549	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:146713956-146714446	GM12878	blood:	n/a	n/a
8	ATF2	chr1:146714012-146714331	GM12878	blood:	n/a	n/a
9	ATF3	chr1:146714652-146714874	K562	blood:	n/a	n/a
10	ATF3	chr1:146714048-146714350	K562	blood:	n/a	chr1:146714279-146714288
11	BACH1	chr1:146713666-146714213	K562	blood:	n/a	chr1:146713718-146713732
12	BACH1	chr1:146714440-146714472	K562	blood:	n/a	n/a
13	BACH1	chr1:146713791-146714916	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr1:146714618-146714896	GM12878	blood:	n/a	n/a
15	BCL3	chr1:146714048-146714478	GM12878	blood:	n/a	n/a
16	BCLAF1	chr1:146713928-146715063	GM12878	blood:	n/a	chr1:146714542-146714555
17	BCLAF1	chr1:146713911-146714997	GM12878	blood:	n/a	chr1:146714542-146714555
18	BHLHE40	chr1:146713920-146715305	K562	blood:	n/a	chr1:146714542-146714558
19	BHLHE40	chr1:146713958-146714952	GM12878	blood:	n/a	chr1:146714542-146714558
20	BHLHE40	chr1:146713945-146715311	HepG2	liver:	n/a	chr1:146714542-146714558
21	BRCA1	chr1:146713954-146715451	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:146713989-146714379	HepG2	liver:	n/a	n/a
23	BRCA1	chr1:146713816-146714400	GM12878	blood:	n/a	n/a
24	BRCA1	chr1:146714109-146714362	H1-hESC	embryonic stem cell:	n/a	n/a
25	CBX3	chr1:146714534-146715021	K562	blood:	n/a	n/a
26	CBX3	chr1:146713847-146714437	K562	blood:	n/a	n/a
27	CCNT2	chr1:146714008-146715304	K562	blood:	n/a	chr1:146715176-146715185
28	CEBPB	chr1:146714622-146715235	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr1:146714648-146715216	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:146714076-146714388	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr1:146713972-146714416	Hela-S3	cervix:	n/a	n/a
32	CEBPD	chr1:146714136-146714560	HepG2	liver:	n/a	n/a
33	CHD1	chr1:146714038-146715196	GM12878	blood:	n/a	n/a
34	CHD2	chr1:146714024-146715407	GM12878	blood:	n/a	n/a
35	CHD2	chr1:146714617-146715218	K562	blood:	n/a	n/a
36	CHD2	chr1:146714083-146714312	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr1:146714604-146714950	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr1:146715221-146715373	HepG2	liver:	n/a	n/a
39	CHD2	chr1:146714101-146714829	HepG2	liver:	n/a	n/a
40	CHD2	chr1:146714031-146715026	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr1:146714095-146714327	K562	blood:	n/a	n/a
42	CREB1	chr1:146713916-146714995	GM12878	blood:	n/a	n/a
43	CREB1	chr1:146713980-146714945	A549	lung:	n/a	n/a
44	CREB1	chr1:146713992-146715006	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr1:146714084-146714934	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:146714611-146714928	GM12892	blood:	n/a	chr1:146714770-146714778 chr1:146714765-146714778 chr1:146714763-146714781 chr1:146714758-146714779 chr1:146714764-146714780
47	CTCF	chr1:146713764-146715137	HCT-116	colon:	n/a	chr1:146714231-146714244 chr1:146714770-146714778 chr1:146714765-146714778 chr1:146714231-146714244 chr1:146714763-146714781 chr1:146714758-146714779 chr1:146714764-146714780 chr1:146714230-146714246 chr1:146713904-146713911 chr1:146714229-146714247
48	CTCF	chr1:146714072-146714388	GM12891	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247
49	CTCF	chr1:146714700-146714850	GM12873	blood:	n/a	chr1:146714770-146714778 chr1:146714765-146714778 chr1:146714763-146714781 chr1:146714758-146714779 chr1:146714764-146714780
50	CTCF	chr1:146713983-146714454	K562	blood:	n/a	chr1:146714231-146714244 chr1:146714231-146714244 chr1:146714230-146714246 chr1:146714229-146714247

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146714163-146714213	ECC-1	luminal epithelium:	n/a
2	chr1:146714163-146714213	ECC-1	luminal epithelium:	n/a
3	chr1:146715514-146715564	AG04449	skin:	fetal
4	chr1:146714493-146714543	HL-60	blood:	n/a
5	chr1:146715514-146715564	CMK	blood:	n/a
6	chr1:146714798-146714848	Hela-S3	cervix:	n/a
7	chr1:146715099-146715149	Hela-S3	cervix:	n/a
8	chr1:146714493-146714543	GM12878	blood:	n/a
9	chr1:146714163-146714213	HRCEpiC	kidney:	n/a
10	chr1:146714019-146714069	HCT-116	colon:	n/a
11	chr1:146713996-146714046	HRE	kidney:	n/a
12	chr1:146714116-146714166	RPTEC	kidney:	n/a
13	chr1:146714368-146714418	HRPEpiC	eye:	n/a
14	chr1:146714997-146715047	HEEpiC	esophagus:	n/a
15	chr1:146714232-146714282	NHBE	bronchial:	n/a
16	chr1:146713916-146713966	HepG2	liver:	n/a
17	chr1:146714997-146715047	K562	blood:	n/a
18	chr1:146714368-146714418	AG04449	skin:	fetal
19	chr1:146714997-146715047	Caco-2	colon:	n/a
20	chr1:146714208-146714258	BE2_C	brain:	n/a
21	chr1:146715159-146715209	SKMC	muscle:	n/a
22	chr1:146713959-146714009	NT2-D1	testis:	n/a
23	chr1:146714163-146714213	HRPEpiC	eye:	n/a
24	chr1:146714163-146714213	NH-A	brain:	n/a
25	chr1:146714997-146715047	HCM	heart:	n/a
26	chr1:146715514-146715564	IMR90	lung:	fetal
27	chr1:146715514-146715564	HMEC	breast:	n/a
28	chr1:146714798-146714848	HCF	heart:	n/a
29	chr1:146713916-146713966	HL-60	blood:	n/a
30	chr1:146714230-146714280	SK-N-SH_RA	brain:	n/a
31	chr1:146714798-146714848	AG10803	skin:	n/a
32	chr1:146714368-146714418	HPAEpiC	pulmonary alveolar:	n/a
33	chr1:146714368-146714418	SK-N-SH_RA	brain:	n/a
34	chr1:146713996-146714046	PANC-1	pancreas:	n/a
35	chr1:146714368-146714418	SK-N-SH	brain:	n/a
36	chr1:146714230-146714280	NHDF-neo	bronchial:	n/a
37	chr1:146714230-146714280	U87	brain:	n/a
38	chr1:146714163-146714213	LNCaP	prostate:	n/a
39	chr1:146714798-146714848	NH-A	brain:	n/a
40	chr1:146715099-146715149	HMEC	breast:	n/a
41	chr1:146715099-146715149	Caco-2	colon:	n/a
42	chr1:146714116-146714166	SK-N-SH	brain:	n/a
43	chr1:146714163-146714213	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:146713493-146713543	ProgFib	skin:	n/a
45	chr1:146715099-146715149	BE2_C	brain:	n/a
46	chr1:146715872-146715922	AG09309	skin:	n/a
47	chr1:146714230-146714280	HL-60	blood:	n/a
48	chr1:146714232-146714282	Caco-2	colon:	n/a
49	chr1:146714232-146714282	CMK	blood:	n/a
50	chr1:146714230-146714280	T-47D	breast:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146643464..146645140-chr1:146713602..146715704,127	MCF-7	breast:
2	chr1:146714651..146716663-chr1:147141111..147143150,2	MCF-7	breast:
3	chr1:146713799..146714746-chr7:86781364..86782270,2	Hela-S3	cervix:
4	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
5	chr1:146713889..146714482-chr1:207494791..207495360,2	Hela-S3	cervix:
6	chr1:146649315..146651856-chr1:146712649..146716301,4	MCF-7	breast:
7	chr1:146696837..146698411-chr1:146712690..146714325,2	K562	blood:
8	chr1:146643597..146644883-chr1:146713838..146714581,3	MCF-7	breast:
9	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
10	chr1:146554504..146557399-chr1:146713775..146716499,4	MCF-7	breast:
11	chr1:146632272..146634531-chr1:146713179..146715784,3	MCF-7	breast:
12	chr1:146643493..146644893-chr1:146713471..146715076,53	MCF-7	breast:
13	chr1:146696095..146697262-chr1:146714138..146714926,6	MCF-7	breast:
14	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
15	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:
16	chr1:146643751..146644645-chr1:146713680..146714742,5	MCF-7	breast:
17	chr1:146712756..146714985-chr9:19378272..19380601,2	MCF-7	breast:
18	chr1:28975066..28975586-chr1:146713775..146714464,2	NB4	blood:
19	chr1:146642817..146644911-chr1:146712966..146715242,14	K562	blood:
20	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
21	chr1:146629607..146632064-chr1:146712714..146714253,2	MCF-7	breast:
22	chr1:146714725..146717432-chr1:146860214..146861781,2	MCF-7	breast:
23	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
24	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
25	chr1:78225023..78225750-chr1:146714356..146714894,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FMO5	TF binding region
CHD1L	TF binding region
FMO5	CpG island
CHD1L	CpG island
ENSG00000237188	chromatin interactions
ENSG00000162836	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000137154	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000201142	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000273071	chromatin interactions
ENSG00000224046	chromatin interactions
ENSG00000271721	chromatin interactions
ENSG00000180867	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000077254	chromatin interactions
ENSG00000131781	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587667725	chr1:146713494-146713495	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs144113727	chr1:146713509-146713510	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs375982989	chr1:146713526-146713527	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs587622999	chr1:146713533-146713534	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs587709024	chr1:146713554-146713555	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs72997586	chr1:146713635-146713636	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs587639988	chr1:146713664-146713665	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs587721565	chr1:146713671-146713672	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs587752819	chr1:146713732-146713733	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs57949622	chr1:146713740-146713741	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs587709593	chr1:146713840-146713841	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs183072668	chr1:146713923-146713924	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs147321959	chr1:146713990-146713991	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs587706182	chr1:146713996-146713997	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs187966944	chr1:146714086-146714087	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs72997588	chr1:146714091-146714092	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs193193499	chr1:146714154-146714155	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs184468614	chr1:146714159-146714160	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs587675799	chr1:146714186-146714187	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs139067690	chr1:146714188-146714189	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs72997590	chr1:146714213-146714214	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1890040	chr1:146714255-146714256	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs1890041	chr1:146714281-146714282	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs142998286	chr1:146714287-146714288	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs587723590	chr1:146714293-146714294	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs587737312	chr1:146714302-146714303	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs587608606	chr1:146714308-146714309	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs587692519	chr1:146714323-146714324	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs147494800	chr1:146714354-146714355	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs377310969	chr1:146714360-146714361	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs187995209	chr1:146714365-146714366	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs587685474	chr1:146714374-146714375	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs373271315	chr1:146714376-146714377	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs587765929	chr1:146714389-146714390	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs1890042	chr1:146714392-146714393	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11588753	chr1:146714427-146714428	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149996735	chr1:146714431-146714432	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs200287122	chr1:146714436-146714437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs587605632	chr1:146714449-146714450	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs587687001	chr1:146714457-146714458	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs114684229	chr1:146714534-146714535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs587621160	chr1:146714570-146714571	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs587701165	chr1:146714576-146714577	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs374668288	chr1:146714586-146714587	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs1890043	chr1:146714588-146714589	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs144558067	chr1:146714592-146714593	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs370356736	chr1:146714594-146714595	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs587689150	chr1:146714623-146714624	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs113729401	chr1:146714636-146714637	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs587728986	chr1:146714656-146714657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:157)

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
small cell lung cancer	20016488	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146708800-146713600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:146709000-146713600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:146709200-146713600	Weak transcription	HMEC	breast
4	chr1:146709200-146713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:146709200-146714200	Weak transcription	Gastric	stomach
6	chr1:146709400-146713600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:146709400-146713800	Weak transcription	Colonic Mucosa	Colon
8	chr1:146709400-146713800	Weak transcription	Placenta	Placenta
9	chr1:146709400-146714000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:146709400-146714000	Weak transcription	Esophagus	oesophagus
11	chr1:146709400-146714200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:146710200-146713400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:146710200-146713600	Weak transcription	Hela-S3	cervix
14	chr1:146710200-146713800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:146711200-146713600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:146711200-146713800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:146711600-146713400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:146711600-146713400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:146711600-146713400	Weak transcription	Stomach Mucosa	stomach
20	chr1:146711600-146713600	Weak transcription	A549	lung
21	chr1:146711600-146713800	Weak transcription	Fetal Lung	lung
22	chr1:146711800-146713400	Enhancers	HepG2	liver
23	chr1:146712000-146713800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:146712200-146713400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:146712400-146713600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:146712600-146713600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:146712600-146713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:146712600-146714000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:146712600-146714000	Weak transcription	Pancreas	Pancrea
30	chr1:146712600-146714200	Weak transcription	Lung	lung
31	chr1:146712800-146713600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:146713000-146713400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:146713000-146713600	Weak transcription	Fetal Kidney	kidney
34	chr1:146713000-146713800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:146713200-146713400	Enhancers	Dnd41	blood
36	chr1:146713200-146713800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:146713200-146714200	Flanking Active TSS	Liver	Liver
38	chr1:146713400-146713600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:146713400-146713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:146713400-146713600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:146713400-146713600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:146713400-146713600	Enhancers	Brain Angular Gyrus	brain
43	chr1:146713400-146713600	Enhancers	Brain Hippocampus Middle	brain
44	chr1:146713400-146713600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:146713400-146713600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr1:146713400-146713600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:146713400-146713600	Enhancers	Osteobl	bone
48	chr1:146713400-146713800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr1:146713400-146713800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:146713400-146713800	Enhancers	Brain Substantia Nigra	brain

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