Variant report

Variant	esv3442043
Chromosome Location	chr1:212457854-212460702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:979)
CpG islands
(count:733)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:979 , 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	chr1:212457762-212458752	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	chr1:212457963-212458478	GM12878	blood:	n/a	n/a
7	ATF2	chr1:212457939-212458972	GM12878	blood:	n/a	n/a
8	BACH1	chr1:212457955-212458451	K562	blood:	n/a	n/a
9	BACH1	chr1:212459447-212460104	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:212458020-212459011	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr1:212458581-212458974	GM12878	blood:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
12	BCL3	chr1:212457683-212458578	A549	lung:	n/a	n/a
13	BCL3	chr1:212458429-212458985	A549	lung:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
14	BCL3	chr1:212459387-212460152	A549	lung:	n/a	n/a
15	BCL3	chr1:212457657-212458370	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	chr1:212458542-212459094	GM12878	blood:	n/a	chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
19	BCLAF1	chr1:212457873-212459111	GM12878	blood:	n/a	chr1:212459094-212459107 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	chr1:212457930-212459050	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:212457785-212460059	K562	blood:	n/a	chr1:212459393-212459409
23	BHLHE40	chr1:212457940-212459093	HepG2	liver:	n/a	n/a
24	BRCA1	chr1:212457751-212458543	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr1:212457846-212458969	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr1:212458248-212458608	GM12878	blood:	n/a	n/a
27	BRCA1	chr1:212459559-212461049	Hela-S3	cervix:	n/a	chr1:212460300-212460307
28	BRCA1	chr1:212458099-212458876	HepG2	liver:	n/a	n/a
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	chr1:212457912-212458762	A549	lung:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
33	CEBPB	chr1:212457849-212458923	HepG2	liver:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
34	CEBPB	chr1:212457821-212458498	GM12878	blood:	n/a	n/a
35	CEBPB	chr1:212457981-212458779	IMR90	lung:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
36	CEBPB	chr1:212457953-212458298	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:212457857-212459000	Hela-S3	cervix:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
38	CEBPB	chr1:212459755-212459993	K562	blood:	n/a	n/a
39	CEBPB	chr1:212457942-212458282	K562	blood:	n/a	n/a
40	CEBPB	chr1:212459784-212460021	A549	lung:	n/a	n/a
41	CEBPB	chr1:212457936-212458354	MCF-7	breast:	n/a	n/a
42	CEBPB	chr1:212457800-212458870	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
43	CEBPB	chr1:212457894-212458411	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr1:212457843-212458852	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
45	CEBPB	chr1:212457882-212458861	HepG2	liver:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
46	CEBPB	chr1:212459461-212460420	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr1:212457805-212458426	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPD	chr1:212457969-212458956	HepG2	liver:	n/a	n/a
49	CHD1	chr1:212457982-212458443	GM12878	blood:	n/a	chr1:212458133-212458143
50	CHD1	chr1:212458884-212460333	H1-hESC	embryonic stem cell:	n/a	chr1:212459289-212459299

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212458738-212458788	MCF-7	breast:	n/a
2	chr1:212458738-212458788	MCF-7	breast:	n/a
3	chr1:212458726-212458776	Hepatocyte	liver:	n/a
4	chr1:212457915-212457965	HRPEpiC	eye:	n/a
5	chr1:212459029-212459079	PFSK-1	brain:	n/a
6	chr1:212458138-212458188	HCPEpiC	choroid plexus:	n/a
7	chr1:212459029-212459079	RPTEC	kidney:	n/a
8	chr1:212459293-212459343	HRPEpiC	eye:	n/a
9	chr1:212459293-212459343	HUVEC	blood vessel:	n/a
10	chr1:212459029-212459079	SKMC	muscle:	n/a
11	chr1:212459293-212459343	PANC-1	pancreas:	n/a
12	chr1:212458162-212458212	A549	lung:	n/a
13	chr1:212459693-212459743	AG10803	skin:	n/a
14	chr1:212458736-212458786	AG04450	lung:	fetal
15	chr1:212458726-212458776	PANC-1	pancreas:	n/a
16	chr1:212459290-212459340	AG04450	lung:	fetal
17	chr1:212458736-212458786	ovcar-3	ovarian:	n/a
18	chr1:212457915-212457965	AG04450	lung:	fetal
19	chr1:212457915-212457965	IMR90	lung:	fetal
20	chr1:212459293-212459343	HepG2	liver:	n/a
21	chr1:212459290-212459340	AG09309	skin:	n/a
22	chr1:212459693-212459743	MCF-7	breast:	n/a
23	chr1:212459290-212459340	HUVEC	blood vessel:	n/a
24	chr1:212459693-212459743	PrEC	prostate:	n/a
25	chr1:212458738-212458788	PFSK-1	brain:	n/a
26	chr1:212460169-212460219	U87	brain:	n/a
27	chr1:212458138-212458188	HEEpiC	esophagus:	n/a
28	chr1:212458162-212458212	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:212458726-212458776	ECC-1	luminal epithelium:	n/a
30	chr1:212458162-212458212	HCPEpiC	choroid plexus:	n/a
31	chr1:212457915-212457965	HRE	kidney:	n/a
32	chr1:212458726-212458776	Hela-S3	cervix:	n/a
33	chr1:212458726-212458776	SK-N-SH_RA	brain:	n/a
34	chr1:212457915-212457965	U87	brain:	n/a
35	chr1:212458738-212458788	ECC-1	luminal epithelium:	n/a
36	chr1:212459693-212459743	T-47D	breast:	n/a
37	chr1:212459029-212459079	HCF	heart:	n/a
38	chr1:212460169-212460219	AoSMC	blood vessel:	n/a
39	chr1:212458738-212458788	SK-N-MC	brain:	n/a
40	chr1:212459290-212459340	RPTEC	kidney:	n/a
41	chr1:212458738-212458788	AG09319	gingival:	n/a
42	chr1:212459290-212459340	HRE	kidney:	n/a
43	chr1:212459029-212459079	AG04449	skin:	fetal
44	chr1:212458738-212458788	Jurkat	blood:	n/a
45	chr1:212458726-212458776	AG04449	skin:	fetal
46	chr1:212459290-212459340	HCM	heart:	n/a
47	chr1:212459290-212459340	ECC-1	luminal epithelium:	n/a
48	chr1:212458736-212458786	NT2-D1	testis:	n/a
49	chr1:212460169-212460219	LNCaP	prostate:	n/a
50	chr1:212459290-212459340	PFSK-1	brain:	n/a

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

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

(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
ENSG00000162231	chromatin interactions
ENSG00000266552	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000136448	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000229983	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000264358	chromatin interactions
ENSG00000074621	chromatin interactions
ENSG00000220749	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000226251	chromatin interactions
ENSG00000167468	chromatin interactions
ENSG00000138614	chromatin interactions
ENSG00000100523	chromatin interactions
ENSG00000252879	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000225338	chromatin interactions
ENSG00000258731	chromatin interactions
ENSG00000065600	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146005186	chr1:212457861-212457862	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs571438748	chr1:212457864-212457865	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs139905916	chr1:212457885-212457886	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs189382388	chr1:212457889-212457890	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs374126002	chr1:212457893-212457894	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs542933487	chr1:212457975-212457976	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs58328501	chr1:212457981-212457982	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs72752376	chr1:212457987-212457988	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568326352	chr1:212458011-212458012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs370170488	chr1:212458014-212458015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs573962489	chr1:212458045-212458046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs550494496	chr1:212458047-212458048	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs72752377	chr1:212458049-212458050	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs351412	chr1:212458123-212458124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76606646	chr1:212458127-212458128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs182269405	chr1:212458183-212458184	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs114170887	chr1:212458242-212458243	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs530566198	chr1:212458285-212458286	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs552656549	chr1:212458302-212458303	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212457000-212458000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr1:212457000-212458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:212457000-212458200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr1:212457000-212458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
6	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
7	chr1:212457200-212458000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:212457200-212458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr1:212457200-212458000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:212457200-212458000	Flanking Active TSS	Liver	Liver
11	chr1:212457200-212458000	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr1:212457200-212458000	Enhancers	Spleen	Spleen
13	chr1:212457200-212458000	Flanking Active TSS	Hela-S3	cervix
14	chr1:212457200-212458200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:212457200-212458200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr1:212457200-212458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:212457200-212458200	Flanking Active TSS	Dnd41	blood
18	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
25	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:212457400-212458000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:212457400-212458000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:212457400-212458000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr1:212457400-212458000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:212457400-212458000	Active TSS	Right Atrium	heart
34	chr1:212457400-212458000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:212457400-212458000	Flanking Active TSS	Thymus	Thymus
36	chr1:212457400-212458200	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr1:212457400-212458200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:212457400-212458200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:212457400-212458400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr1:212457400-212458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:212457400-212460600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:212457400-212460600	Active TSS	Fetal Stomach	stomach
43	chr1:212457400-212461000	Active TSS	Stomach Mucosa	stomach
44	chr1:212457400-212461400	Active TSS	Fetal Intestine Large	intestine
45	chr1:212457400-212461800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr1:212457400-212463400	Active TSS	Right Ventricle	heart
47	chr1:212457600-212458000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:212457600-212458000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:212457600-212458000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:212457600-212458000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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