Variant report

Variant	esv1802931
Chromosome Location	chr1:212458317-212459623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:823)
CpG islands
(count:366)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:212457762-212458752	K562	blood:	n/a	n/a
2	ARID3A	chr1:212457787-212458782	HepG2	liver:	n/a	n/a
3	ATF1	chr1:212457990-212458855	K562	blood:	n/a	n/a
4	ATF2	chr1:212457991-212458501	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:212459287-212459766	GM12878	blood:	n/a	n/a
6	ATF2	chr1:212457939-212458972	GM12878	blood:	n/a	n/a
7	ATF2	chr1:212457963-212458478	GM12878	blood:	n/a	n/a
8	BACH1	chr1:212459447-212460104	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr1:212458020-212459011	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:212457955-212458451	K562	blood:	n/a	n/a
11	BCL11A	chr1:212458581-212458974	GM12878	blood:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
12	BCL3	chr1:212458429-212458985	A549	lung:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
13	BCL3	chr1:212457683-212458578	A549	lung:	n/a	n/a
14	BCL3	chr1:212457657-212458370	A549	lung:	n/a	n/a
15	BCL3	chr1:212459387-212460152	A549	lung:	n/a	n/a
16	BCL3	chr1:212458453-212459006	GM12878	blood:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
17	BCLAF1	chr1:212459219-212460145	GM12878	blood:	n/a	chr1:212459230-212459243
18	BCLAF1	chr1:212457873-212459111	GM12878	blood:	n/a	chr1:212459094-212459107 chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
19	BCLAF1	chr1:212458542-212459094	GM12878	blood:	n/a	chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
20	BCLAF1	chr1:212459279-212460105	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:212457785-212460059	K562	blood:	n/a	chr1:212459393-212459409
22	BHLHE40	chr1:212457940-212459093	HepG2	liver:	n/a	n/a
23	BHLHE40	chr1:212457930-212459050	GM12878	blood:	n/a	n/a
24	BRCA1	chr1:212457846-212458969	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:212458248-212458608	GM12878	blood:	n/a	n/a
26	BRCA1	chr1:212457751-212458543	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:212458099-212458876	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:212459559-212461049	Hela-S3	cervix:	n/a	chr1:212460300-212460307
29	CBX3	chr1:212457562-212458992	K562	blood:	n/a	n/a
30	CBX3	chr1:212459342-212460181	K562	blood:	n/a	n/a
31	CCNT2	chr1:212457631-212460019	K562	blood:	n/a	chr1:212458617-212458626 chr1:212458221-212458230 chr1:212458830-212458839
32	CEBPB	chr1:212457821-212458498	GM12878	blood:	n/a	n/a
33	CEBPB	chr1:212457912-212458762	A549	lung:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
34	CEBPB	chr1:212457882-212458861	HepG2	liver:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
35	CEBPB	chr1:212457981-212458779	IMR90	lung:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
36	CEBPB	chr1:212457894-212458411	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr1:212457843-212458852	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
38	CEBPB	chr1:212457849-212458923	HepG2	liver:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
39	CEBPB	chr1:212459461-212460420	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:212457800-212458870	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
41	CEBPB	chr1:212457805-212458426	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr1:212457936-212458354	MCF-7	breast:	n/a	n/a
43	CEBPB	chr1:212457857-212459000	Hela-S3	cervix:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
44	CEBPD	chr1:212457969-212458956	HepG2	liver:	n/a	n/a
45	CHD1	chr1:212457982-212458443	GM12878	blood:	n/a	chr1:212458133-212458143
46	CHD1	chr1:212458683-212460224	GM12878	blood:	n/a	chr1:212459289-212459299
47	CHD1	chr1:212457889-212458383	H1-hESC	embryonic stem cell:	n/a	chr1:212458133-212458143
48	CHD1	chr1:212458884-212460333	H1-hESC	embryonic stem cell:	n/a	chr1:212459289-212459299
49	CHD2	chr1:212459490-212459659	HepG2	liver:	n/a	n/a
50	CHD2	chr1:212457781-212460540	Hela-S3	cervix:	n/a	chr1:212458133-212458143 chr1:212459289-212459299

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212459290-212459340	NT2-D1	testis:	n/a
2	chr1:212459293-212459343	RPTEC	kidney:	n/a
3	chr1:212459029-212459079	U87	brain:	n/a
4	chr1:212459029-212459079	ProgFib	skin:	n/a
5	chr1:212458726-212458776	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:212459293-212459343	AG09319	gingival:	n/a
7	chr1:212458738-212458788	PANC-1	pancreas:	n/a
8	chr1:212459290-212459340	ovcar-3	ovarian:	n/a
9	chr1:212459029-212459079	SAEC	small airway:	n/a
10	chr1:212459290-212459340	AG04450	lung:	fetal
11	chr1:212459293-212459343	ProgFib	skin:	n/a
12	chr1:212459293-212459343	GM12878	blood:	n/a
13	chr1:212458736-212458786	SK-N-SH_RA	brain:	n/a
14	chr1:212458738-212458788	K562	blood:	n/a
15	chr1:212458736-212458786	GM12878	blood:	n/a
16	chr1:212458738-212458788	PFSK-1	brain:	n/a
17	chr1:212458726-212458776	HCPEpiC	choroid plexus:	n/a
18	chr1:212459029-212459079	AG09319	gingival:	n/a
19	chr1:212458738-212458788	HCPEpiC	choroid plexus:	n/a
20	chr1:212459293-212459343	GM06990	blood:	n/a
21	chr1:212458738-212458788	HRPEpiC	eye:	n/a
22	chr1:212458738-212458788	MCF-7	breast:	n/a
23	chr1:212459293-212459343	HCF	heart:	n/a
24	chr1:212459029-212459079	AG09309	skin:	n/a
25	chr1:212458726-212458776	AoSMC	blood vessel:	n/a
26	chr1:212458738-212458788	AG09319	gingival:	n/a
27	chr1:212458736-212458786	HCM	heart:	n/a
28	chr1:212458726-212458776	AG09309	skin:	n/a
29	chr1:212459029-212459079	PANC-1	pancreas:	n/a
30	chr1:212459293-212459343	NT2-D1	testis:	n/a
31	chr1:212458726-212458776	PrEC	prostate:	n/a
32	chr1:212459290-212459340	MCF10A-Er-Src	breast:	n/a
33	chr1:212458738-212458788	Jurkat	blood:	n/a
34	chr1:212458736-212458786	SAEC	small airway:	n/a
35	chr1:212459293-212459343	AG04450	lung:	fetal
36	chr1:212459029-212459079	HCT-116	colon:	n/a
37	chr1:212458736-212458786	NHDF-neo	bronchial:	n/a
38	chr1:212458736-212458786	PrEC	prostate:	n/a
39	chr1:212458726-212458776	A549	lung:	n/a
40	chr1:212458726-212458776	AG04449	skin:	fetal
41	chr1:212459293-212459343	HL-60	blood:	n/a
42	chr1:212458736-212458786	A549	lung:	n/a
43	chr1:212459293-212459343	IMR90	lung:	fetal
44	chr1:212459293-212459343	HNPCEpiC	eye:	n/a
45	chr1:212459290-212459340	HIPEpiC	eye:	n/a
46	chr1:212459290-212459340	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:212459029-212459079	MCF10A-Er-Src	breast:	n/a
48	chr1:212459029-212459079	IMR90	lung:	fetal
49	chr1:212459029-212459079	MCF-7	breast:	n/a
50	chr1:212459029-212459079	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
2	chr1:212413271..212416807-chr1:212458908..212461742,4	K562	blood:
3	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:
4	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:
5	chr1:212458268..212458855-chr3:156873776..156874390,2	Hela-S3	cervix:
6	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
7	chr1:212458286..212459222-chr19:1103699..1104396,2	Hela-S3	cervix:
8	chr1:212458481..212459076-chr11:62572569..62573273,2	Hela-S3	cervix:
9	chr1:212413989..212416642-chr1:212457205..212458849,2	K562	blood:
10	chr1:212459145..212461703-chr1:212522964..212525110,2	K562	blood:
11	chr1:212427390..212429185-chr1:212456996..212458799,2	K562	blood:
12	chr1:212412059..212414771-chr1:212457141..212460408,3	K562	blood:
13	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
14	chr1:212340300..212343079-chr1:212458755..212460683,2	K562	blood:
15	chr1:212459054..212459554-chr3:186500797..186501438,2	Hela-S3	cervix:
16	chr1:212458393..212459271-chr14:53619636..53620467,2	HCT-116	colon:
17	chr1:212459000..212459553-chr16:21611112..21611902,2	Hela-S3	cervix:
18	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
19	chr1:212459558..212461570-chr1:212482463..212485190,2	K562	blood:
20	chr1:212458842..212459587-chr6:26216702..26217355,2	Hela-S3	cervix:
21	chr1:212458534..212459053-chr15:65903239..65904169,2	NB4	blood:
22	chr1:212456717..212458394-chr1:212483325..212485097,2	MCF-7	breast:
23	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
24	chr1:212456696..212458579-chr1:212781101..212782934,2	K562	blood:
25	chr1:212458466..212459172-chr12:120972086..120972631,2	Hela-S3	cervix:
26	chr1:212222561..212225557-chr1:212458329..212459830,2	K562	blood:
27	chr1:210546975..210548886-chr1:212457780..212460319,2	MCF-7	breast:
28	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
29	chr1:212458637..212459338-chr17:43138641..43139566,2	Hela-S3	cervix:
30	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
31	chr1:212458733..212459387-chr8:141521541..141522086,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM206-5	chr1:212458321-212458414	XLOC_001191

No data

Variant related genes	Relation type
PPP2R5A	TF binding region
PPP2R5A	CpG island
ENSG00000264358	chromatin interactions
ENSG00000074621	chromatin interactions
ENSG00000252879	chromatin interactions
ENSG00000167468	chromatin interactions
ENSG00000065600	chromatin interactions
ENSG00000220749	chromatin interactions
ENSG00000229983	chromatin interactions
ENSG00000100523	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000258731	chromatin interactions
ENSG00000226251	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000225338	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000266552	chromatin interactions
ENSG00000138614	chromatin interactions
ENSG00000136448	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs968532	chr1:212458317-212458318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567219084	chr1:212458327-212458328	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs528095089	chr1:212458345-212458346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs546850527	chr1:212458357-212458358	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
5	rs571601777	chr1:212458366-212458367	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
6	rs538825412	chr1:212458372-212458373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
7	rs968531	chr1:212458383-212458384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs569073987	chr1:212458385-212458386	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs2236598	chr1:212458391-212458392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535938800	chr1:212458404-212458405	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
11	rs555597149	chr1:212458412-212458413	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
12	rs112808694	chr1:212458417-212458418	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs573951815	chr1:212458446-212458447	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs116152882	chr1:212458481-212458482	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
15	rs553237633	chr1:212458501-212458502	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
16	rs577958062	chr1:212458506-212458507	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
17	rs372031681	chr1:212458525-212458526	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
18	rs563499233	chr1:212458596-212458597	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
19	rs536168576	chr1:212458606-212458607	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs35623430	chr1:212458611-212458612	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs113386004	chr1:212458620-212458621	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs351411	chr1:212458622-212458623	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12735746	chr1:212458631-212458632	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs560846174	chr1:212458645-212458646	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs351410	chr1:212458677-212458678	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs546656745	chr1:212458703-212458704	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs565172970	chr1:212458704-212458705	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs377415332	chr1:212458731-212458732	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs532399411	chr1:212458750-212458751	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs550905209	chr1:212458751-212458752	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs569041099	chr1:212458782-212458783	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
32	rs536081680	chr1:212458788-212458789	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs368677893	chr1:212458816-212458817	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs373230373	chr1:212458817-212458818	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs567689344	chr1:212458818-212458819	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs535009744	chr1:212458831-212458832	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs554271974	chr1:212458843-212458844	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs552996508	chr1:212458886-212458887	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs575645919	chr1:212458897-212458898	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs577618069	chr1:212458909-212458910	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs538910899	chr1:212458911-212458912	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs111653872	chr1:212458946-212458947	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
43	rs575771189	chr1:212458978-212458979	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs368676386	chr1:212458987-212458988	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
45	rs17042034	chr1:212459015-212459016	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs561026800	chr1:212459034-212459035	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs572896920	chr1:212459035-212459036	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
48	rs540330046	chr1:212459056-212459057	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs564997533	chr1:212459127-212459128	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs564825316	chr1:212459141-212459142	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
2	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
3	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
10	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:212457400-212458400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr1:212457400-212458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:212457400-212460600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:212457400-212460600	Active TSS	Fetal Stomach	stomach
18	chr1:212457400-212461000	Active TSS	Stomach Mucosa	stomach
19	chr1:212457400-212461400	Active TSS	Fetal Intestine Large	intestine
20	chr1:212457400-212461800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:212457400-212463400	Active TSS	Right Ventricle	heart
22	chr1:212457600-212458400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr1:212457600-212458400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212457600-212458600	Active TSS	Fetal Kidney	kidney
25	chr1:212457600-212458800	Active TSS	HepG2	liver
26	chr1:212457600-212459400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:212457600-212459800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:212457600-212460400	Active TSS	K562	blood
29	chr1:212457600-212460600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:212457600-212460600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:212457600-212460800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:212457600-212460800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:212457600-212460800	Active TSS	Brain Anterior Caudate	brain
34	chr1:212457600-212461400	Active TSS	Left Ventricle	heart
35	chr1:212457600-212461600	Active TSS	NHDF-Ad	bronchial
36	chr1:212457600-212461800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:212457600-212461800	Active TSS	Esophagus	oesophagus
38	chr1:212457600-212462400	Active TSS	Aorta	Aorta
39	chr1:212457600-212462800	Active TSS	Psoas Muscle	Psoas
40	chr1:212457800-212458400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:212457800-212458400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:212457800-212458400	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:212457800-212458400	Active TSS	Fetal Heart	heart
44	chr1:212457800-212459800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:212457800-212460200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:212457800-212460600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:212457800-212460600	Active TSS	HMEC	breast
48	chr1:212457800-212460600	Active TSS	HSMMtube	muscle
49	chr1:212457800-212460800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:212457800-212460800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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