Variant report

Variant	esv1839887
Chromosome Location	chr1:212457414-212478047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1466)
CpG islands
(count:917)
Chromatin interactive
region (count:55)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:212457787-212458782	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:212460768-212461026	K562	blood:	n/a	n/a
3	ARID3A	chr1:212464827-212465194	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:212466830-212467243	K562	blood:	n/a	n/a
5	ARID3A	chr1:212457762-212458752	K562	blood:	n/a	n/a
6	ARID3A	chr1:212463498-212463782	K562	blood:	n/a	n/a
7	ARID3A	chr1:212462583-212462904	K562	blood:	n/a	n/a
8	ATF1	chr1:212469803-212470088	K562	blood:	n/a	n/a
9	ATF1	chr1:212457990-212458855	K562	blood:	n/a	n/a
10	ATF1	chr1:212464037-212464197	K562	blood:	n/a	n/a
11	ATF2	chr1:212459287-212459766	GM12878	blood:	n/a	n/a
12	ATF2	chr1:212457963-212458478	GM12878	blood:	n/a	n/a
13	ATF2	chr1:212457991-212458501	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:212457939-212458972	GM12878	blood:	n/a	n/a
15	ATF3	chr1:212464032-212464340	K562	blood:	n/a	n/a
16	BACH1	chr1:212458020-212459011	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:212459447-212460104	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:212462631-212462671	K562	blood:	n/a	n/a
19	BACH1	chr1:212457955-212458451	K562	blood:	n/a	n/a
20	BATF	chr1:212476325-212476640	GM12878	blood:	n/a	n/a
21	BATF	chr1:212464023-212464282	GM12878	blood:	n/a	chr1:212464173-212464184 chr1:212464174-212464184 chr1:212464170-212464180
22	BCL11A	chr1:212458581-212458974	GM12878	blood:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
23	BCL3	chr1:212458453-212459006	GM12878	blood:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
24	BCL3	chr1:212459387-212460152	A549	lung:	n/a	n/a
25	BCL3	chr1:212457683-212458578	A549	lung:	n/a	n/a
26	BCL3	chr1:212457657-212458370	A549	lung:	n/a	n/a
27	BCL3	chr1:212458429-212458985	A549	lung:	n/a	chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
28	BCLAF1	chr1:212459279-212460105	GM12878	blood:	n/a	n/a
29	BCLAF1	chr1:212459219-212460145	GM12878	blood:	n/a	chr1:212459230-212459243
30	BCLAF1	chr1:212457873-212459111	GM12878	blood:	n/a	chr1:212459094-212459107 chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
31	BCLAF1	chr1:212458542-212459094	GM12878	blood:	n/a	chr1:212459024-212459037 chr1:212458846-212458859 chr1:212458625-212458634 chr1:212458622-212458631
32	BHLHE40	chr1:212457940-212459093	HepG2	liver:	n/a	n/a
33	BHLHE40	chr1:212464922-212465128	HepG2	liver:	n/a	n/a
34	BHLHE40	chr1:212457785-212460059	K562	blood:	n/a	chr1:212459393-212459409
35	BHLHE40	chr1:212457930-212459050	GM12878	blood:	n/a	n/a
36	BRCA1	chr1:212459559-212461049	Hela-S3	cervix:	n/a	chr1:212460300-212460307
37	BRCA1	chr1:212457846-212458969	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr1:212458099-212458876	HepG2	liver:	n/a	n/a
39	BRCA1	chr1:212457751-212458543	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr1:212458248-212458608	GM12878	blood:	n/a	n/a
41	CBX3	chr1:212457562-212458992	K562	blood:	n/a	n/a
42	CBX3	chr1:212459342-212460181	K562	blood:	n/a	n/a
43	CCNT2	chr1:212460719-212460884	K562	blood:	n/a	n/a
44	CCNT2	chr1:212457631-212460019	K562	blood:	n/a	chr1:212458617-212458626 chr1:212458221-212458230 chr1:212458830-212458839
45	CEBPB	chr1:212457936-212458354	MCF-7	breast:	n/a	n/a
46	CEBPB	chr1:212468427-212468614	HepG2	liver:	n/a	chr1:212468503-212468514
47	CEBPB	chr1:212457800-212458870	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592
48	CEBPB	chr1:212457894-212458411	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr1:212464945-212465176	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr1:212457843-212458852	K562	blood:	n/a	chr1:212458492-212458500 chr1:212458584-212458592

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212459290-212459340	AG09309	skin:	n/a
2	chr1:212458726-212458776	IMR90	lung:	fetal
3	chr1:212459290-212459340	AG09309	skin:	n/a
4	chr1:212458726-212458776	IMR90	lung:	fetal
5	chr1:212457915-212457965	PrEC	prostate:	n/a
6	chr1:212458138-212458188	A549	lung:	n/a
7	chr1:212459029-212459079	PrEC	prostate:	n/a
8	chr1:212460169-212460219	NHBE	bronchial:	n/a
9	chr1:212458726-212458776	ovcar-3	ovarian:	n/a
10	chr1:212463238-212463288	Hepatocyte	liver:	n/a
11	chr1:212457915-212457965	AG04450	lung:	fetal
12	chr1:212459293-212459343	BE2_C	brain:	n/a
13	chr1:212458138-212458188	NH-A	brain:	n/a
14	chr1:212463238-212463288	PANC-1	pancreas:	n/a
15	chr1:212460169-212460219	HEK293	kidney:	embryo
16	chr1:212460169-212460219	CMK	blood:	n/a
17	chr1:212458162-212458212	T-47D	breast:	n/a
18	chr1:212457968-212458018	SK-N-SH_RA	brain:	n/a
19	chr1:212460169-212460219	PrEC	prostate:	n/a
20	chr1:212459290-212459340	AG10803	skin:	n/a
21	chr1:212457424-212457474	BE2_C	brain:	n/a
22	chr1:212463238-212463288	BJ	skin:	n/a
23	chr1:212460169-212460219	Caco-2	colon:	n/a
24	chr1:212460169-212460219	NHDF-neo	bronchial:	n/a
25	chr1:212457424-212457474	SK-N-SH_RA	brain:	n/a
26	chr1:212457968-212458018	HIPEpiC	eye:	n/a
27	chr1:212458736-212458786	GM12891	blood:	n/a
28	chr1:212457915-212457965	AG09309	skin:	n/a
29	chr1:212457968-212458018	MCF10A-Er-Src	breast:	n/a
30	chr1:212460169-212460219	NB4	blood:	n/a
31	chr1:212458736-212458786	HNPCEpiC	eye:	n/a
32	chr1:212459029-212459079	K562	blood:	n/a
33	chr1:212457915-212457965	BJ	skin:	n/a
34	chr1:212457424-212457474	BJ	skin:	n/a
35	chr1:212464932-212464982	BE2_C	brain:	n/a
36	chr1:212458162-212458212	PANC-1	pancreas:	n/a
37	chr1:212463238-212463288	CMK	blood:	n/a
38	chr1:212457424-212457474	SK-N-SH	brain:	n/a
39	chr1:212464932-212464982	PFSK-1	brain:	n/a
40	chr1:212458738-212458788	LNCaP	prostate:	n/a
41	chr1:212459693-212459743	SK-N-SH_RA	brain:	n/a
42	chr1:212458726-212458776	SAEC	small airway:	n/a
43	chr1:212457424-212457474	HRPEpiC	eye:	n/a
44	chr1:212457424-212457474	A549	lung:	n/a
45	chr1:212458738-212458788	Hela-S3	cervix:	n/a
46	chr1:212457968-212458018	Hepatocyte	liver:	n/a
47	chr1:212459029-212459079	NHDF-neo	bronchial:	n/a
48	chr1:212464932-212464982	HCM	heart:	n/a
49	chr1:212463238-212463288	U87	brain:	n/a
50	chr1:212459290-212459340	U87	brain:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:212458481..212459076-chr11:62572569..62573273,2	Hela-S3	cervix:
2	chr1:212457668..212459740-chr1:212480446..212483252,3	MCF-7	breast:
3	chr1:212458286..212459222-chr19:1103699..1104396,2	Hela-S3	cervix:
4	chr1:212401784..212403984-chr1:212456649..212458602,2	K562	blood:
5	chr1:212459145..212461703-chr1:212522964..212525110,2	K562	blood:
6	chr1:212458393..212459271-chr14:53619636..53620467,2	HCT-116	colon:
7	chr1:212458637..212459338-chr17:43138641..43139566,2	Hela-S3	cervix:
8	chr1:212241980..212244693-chr1:212464884..212466569,2	K562	blood:
9	chr1:212317380..212319977-chr1:212460933..212463499,2	K562	blood:
10	chr1:210546975..210548886-chr1:212457780..212460319,2	MCF-7	breast:
11	chr1:212185459..212186004-chr1:212466665..212467621,2	K562	blood:
12	chr1:212412059..212414771-chr1:212457141..212460408,3	K562	blood:
13	chr1:212464978..212469431-chr1:212471345..212474474,8	K562	blood:
14	chr1:212413271..212416807-chr1:212458908..212461742,4	K562	blood:
15	chr1:212216853..212219063-chr1:212462611..212464754,2	K562	blood:
16	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:
17	chr1:212247974..212251489-chr1:212456327..212461743,5	MCF-7	breast:
18	chr1:212222561..212225557-chr1:212458329..212459830,2	K562	blood:
19	chr1:212458268..212458855-chr3:156873776..156874390,2	Hela-S3	cervix:
20	chr1:212458842..212459587-chr6:26216702..26217355,2	Hela-S3	cervix:
21	chr1:212464233..212466790-chr1:212482649..212484293,2	K562	blood:
22	chr1:212235954..212236485-chr1:212466879..212467454,2	MCF-7	breast:
23	chr1:212243786..212244527-chr1:212464644..212465359,2	MCF-7	breast:
24	chr1:212458179..212461162-chr1:212476171..212477846,2	K562	blood:
25	chr1:212348711..212350970-chr1:212462639..212464212,2	K562	blood:
26	chr1:212458466..212459172-chr12:120972086..120972631,2	Hela-S3	cervix:
27	chr1:212458733..212459387-chr8:141521541..141522086,2	Hela-S3	cervix:
28	chr1:210546264..210548680-chr1:212458394..212460879,2	K562	blood:
29	chr1:212458534..212459053-chr15:65903239..65904169,2	NB4	blood:
30	chr1:212311478..212312183-chr1:212464622..212465414,3	MCF-7	breast:
31	chr1:212464978..212469431-chr1:212471345..212474474,8	K562	blood:
32	chr1:212246786..212247334-chr1:212464589..212465537,2	MCF-7	breast:
33	chr1:212447955..212449600-chr1:212455738..212457416,2	MCF-7	breast:
34	chr1:212459054..212459554-chr3:186500797..186501438,2	Hela-S3	cervix:
35	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:
36	chr1:212456696..212458579-chr1:212781101..212782934,2	K562	blood:
37	chr1:212340300..212343079-chr1:212458755..212460683,2	K562	blood:
38	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:
39	chr1:212413989..212416642-chr1:212457205..212458849,2	K562	blood:
40	chr1:212243541..212244748-chr1:212466553..212467549,3	MCF-7	breast:
41	chr1:212459000..212459553-chr16:21611112..21611902,2	Hela-S3	cervix:
42	chr1:212427390..212429185-chr1:212456996..212458799,2	K562	blood:
43	chr1:212325528..212328341-chr1:212462025..212464406,2	K562	blood:
44	chr1:212458786..212460373-chr1:212467150..212468979,2	MCF-7	breast:
45	chr1:212456717..212458394-chr1:212483325..212485097,2	MCF-7	breast:
46	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
47	chr1:212458610..212460865-chr1:212476520..212479073,2	K562	blood:
48	chr1:212458597..212460542-chr1:212586367..212588357,2	MCF-7	breast:
49	chr1:212424523..212427087-chr1:212457087..212458716,2	K562	blood:
50	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NENF-4	chr1:212475205-212475434	NONHSAT009362
2	lnc-NENF-2	chr1:212472626-212472921	ENSG00000230063.1
3	lnc-TMEM206-3	chr1:212472837-212472967	ENSG00000234915.1
4	lnc-NENF-2	chr1:212470790-212471143	ENSG00000230063.1
5	lnc-TMEM206-5	chr1:212458321-212458414	XLOC_001191

No data

Variant related genes	Relation type
PPP2R5A	TF binding region
ENSG00000230063	TF binding region
PPP2R5A	CpG island
ENSG00000230063	CpG island
ENSG00000266552	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000156976	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000220749	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000230063	chromatin interactions
ENSG00000074621	chromatin interactions
ENSG00000022840	chromatin interactions
ENSG00000252879	chromatin interactions
ENSG00000167468	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000065600	chromatin interactions
ENSG00000229983	chromatin interactions
ENSG00000225338	chromatin interactions
ENSG00000100523	chromatin interactions
ENSG00000138614	chromatin interactions
ENSG00000264358	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000066027	chromatin interactions
ENSG00000136448	chromatin interactions
ENSG00000226251	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000258731	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000104472	chromatin interactions

Extended variants
information (count: 694 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs351413	chr1:212457414-212457415	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543869640	chr1:212457454-212457455	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs562232909	chr1:212457465-212457466	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs529641396	chr1:212457480-212457481	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs527905669	chr1:212457561-212457562	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs188535287	chr1:212457565-212457566	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs2236597	chr1:212457622-212457623	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192108097	chr1:212457663-212457664	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs551035266	chr1:212457711-212457712	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs569440712	chr1:212457764-212457765	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs530409894	chr1:212457778-212457779	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs376314592	chr1:212457783-212457784	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs547631474	chr1:212457812-212457813	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs549003957	chr1:212457815-212457816	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs567154103	chr1:212457838-212457839	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs184197889	chr1:212457845-212457846	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs146005186	chr1:212457861-212457862	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs571438748	chr1:212457864-212457865	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs139905916	chr1:212457885-212457886	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs189382388	chr1:212457889-212457890	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs374126002	chr1:212457893-212457894	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212446000-212457600	Weak transcription	Fetal Brain Female	brain
2	chr1:212457000-212457600	Enhancers	Fetal Lung	lung
3	chr1:212457000-212457600	Flanking Active TSS	K562	blood
4	chr1:212457000-212457800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:212457000-212458000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr1:212457000-212458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:212457000-212458200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr1:212457000-212458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:212457000-212461400	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:212457000-212461600	Active TSS	Colonic Mucosa	Colon
11	chr1:212457200-212457600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:212457200-212457600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:212457200-212457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:212457200-212457600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:212457200-212457600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:212457200-212457600	Enhancers	Fetal Thymus	thymus
17	chr1:212457200-212457600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:212457200-212457600	Flanking Active TSS	HepG2	liver
19	chr1:212457200-212457600	Enhancers	NHEK	skin
20	chr1:212457200-212457600	Enhancers	NHLF	lung
21	chr1:212457200-212457800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:212457200-212457800	Flanking Active TSS	A549	lung
23	chr1:212457200-212458000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:212457200-212458000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:212457200-212458000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:212457200-212458000	Flanking Active TSS	Liver	Liver
27	chr1:212457200-212458000	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr1:212457200-212458000	Enhancers	Spleen	Spleen
29	chr1:212457200-212458000	Flanking Active TSS	Hela-S3	cervix
30	chr1:212457200-212458200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:212457200-212458200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:212457200-212458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:212457200-212458200	Flanking Active TSS	Dnd41	blood
34	chr1:212457200-212458400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:212457200-212458400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr1:212457200-212460200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:212457200-212460400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:212457200-212460400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:212457200-212460800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:212457200-212460800	Active TSS	Pancreas	Pancrea
41	chr1:212457200-212461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:212457200-212461000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:212457200-212461600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:212457200-212461600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:212457400-212457600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:212457400-212457600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr1:212457400-212457600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:212457400-212457600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:212457400-212457600	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:212457400-212457600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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