Variant report

Variant	esv3529730
Chromosome Location	chr1:155658528-155665576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:660)
CpG islands
(count:794)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155661890-155662275	K562	blood:	n/a	n/a
2	ARID3A	chr1:155658506-155658881	K562	blood:	n/a	n/a
3	ARID3A	chr1:155658644-155658844	HepG2	liver:	n/a	n/a
4	ATF1	chr1:155661656-155662250	K562	blood:	n/a	n/a
5	ATF2	chr1:155658524-155659058	GM12878	blood:	n/a	n/a
6	ATF3	chr1:155658307-155659029	A549	lung:	n/a	n/a
7	BACH1	chr1:155658661-155658693	K562	blood:	n/a	n/a
8	BACH1	chr1:155657984-155659056	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr1:155658481-155658924	A549	lung:	n/a	n/a
10	BCLAF1	chr1:155661762-155662351	K562	blood:	n/a	n/a
11	BCLAF1	chr1:155657814-155658689	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:155658190-155659012	HepG2	liver:	n/a	n/a
13	BHLHE40	chr1:155658013-155658987	GM12878	blood:	n/a	n/a
14	BHLHE40	chr1:155658035-155659053	K562	blood:	n/a	n/a
15	BHLHE40	chr1:155658487-155658957	A549	lung:	n/a	n/a
16	BRCA1	chr1:155658595-155658851	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:155658456-155658910	GM12878	blood:	n/a	n/a
18	BRCA1	chr1:155658263-155658949	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr1:155660893-155662671	K562	blood:	n/a	n/a
20	CBX3	chr1:155657884-155659471	K562	blood:	n/a	n/a
21	CBX3	chr1:155661692-155662517	K562	blood:	n/a	n/a
22	CCNT2	chr1:155658024-155658906	K562	blood:	n/a	n/a
23	CEBPB	chr1:155658676-155658996	GM12878	blood:	n/a	n/a
24	CEBPB	chr1:155661110-155661314	HepG2	liver:	n/a	chr1:155661227-155661238
25	CEBPB	chr1:155665044-155665243	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:155665212-155665227	HepG2	liver:	n/a	n/a
27	CEBPB	chr1:155658443-155658948	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr1:155661694-155662237	K562	blood:	n/a	n/a
29	CEBPB	chr1:155661117-155661323	A549	lung:	n/a	chr1:155661227-155661238
30	CEBPB	chr1:155663681-155663772	HepG2	liver:	n/a	chr1:155663702-155663713
31	CEBPB	chr1:155658528-155659266	GM12878	blood:	n/a	n/a
32	CEBPD	chr1:155661775-155662304	K562	blood:	n/a	n/a
33	CEBPD	chr1:155658309-155658650	HepG2	liver:	n/a	n/a
34	CEBPD	chr1:155658218-155659207	K562	blood:	n/a	n/a
35	CEBPD	chr1:155661726-155662303	K562	blood:	n/a	n/a
36	CHD1	chr1:155657886-155659040	GM12878	blood:	n/a	chr1:155658567-155658577
37	CHD1	chr1:155657643-155659334	IMR90	lung:	n/a	chr1:155658567-155658577
38	CHD1	chr1:155658348-155658952	H1-hESC	embryonic stem cell:	n/a	chr1:155658567-155658577
39	CHD2	chr1:155658017-155658965	GM12878	blood:	n/a	chr1:155658567-155658577
40	CHD2	chr1:155658077-155658953	Hela-S3	cervix:	n/a	chr1:155658567-155658577
41	CHD2	chr1:155658040-155658812	K562	blood:	n/a	chr1:155658567-155658577
42	CHD2	chr1:155658475-155658911	HepG2	liver:	n/a	chr1:155658567-155658577
43	CREB1	chr1:155657960-155659027	A549	lung:	n/a	n/a
44	CREB1	chr1:155657958-155659096	HepG2	liver:	n/a	n/a
45	CREB1	chr1:155657956-155659005	GM12878	blood:	n/a	n/a
46	CTBP2	chr1:155658200-155659009	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr1:155658620-155658770	GM12865	blood:	n/a	n/a
48	CTCF	chr1:155658480-155658630	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr1:155658760-155658910	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr1:155658760-155658910	HCPEpiC	choroid plexus:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155663085-155663135	SK-N-MC	brain:	n/a
2	chr1:155663085-155663135	SK-N-MC	brain:	n/a
3	chr1:155659194-155659244	HCT-116	colon:	n/a
4	chr1:155658933-155658983	AG09309	skin:	n/a
5	chr1:155659111-155659161	GM19239	blood:	n/a
6	chr1:155659719-155659769	HUVEC	blood vessel:	n/a
7	chr1:155658835-155658885	HRE	kidney:	n/a
8	chr1:155658509-155658559	Caco-2	colon:	n/a
9	chr1:155659719-155659769	AG04450	lung:	fetal
10	chr1:155659247-155659297	HAEpiC	amniotic membrane:	n/a
11	chr1:155659719-155659769	K562	blood:	n/a
12	chr1:155658835-155658885	AG09319	gingival:	n/a
13	chr1:155659111-155659161	RPTEC	kidney:	n/a
14	chr1:155659247-155659297	GM06990	blood:	n/a
15	chr1:155658576-155658626	AoSMC	blood vessel:	n/a
16	chr1:155659247-155659297	HRCEpiC	kidney:	n/a
17	chr1:155658843-155658893	A549	lung:	n/a
18	chr1:155659111-155659161	ECC-1	luminal epithelium:	n/a
19	chr1:155659247-155659297	PFSK-1	brain:	n/a
20	chr1:155658701-155658751	Hepatocyte	liver:	n/a
21	chr1:155658933-155658983	SK-N-SH	brain:	n/a
22	chr1:155659111-155659161	HCM	heart:	n/a
23	chr1:155658576-155658626	SK-N-SH_RA	brain:	n/a
24	chr1:155663085-155663135	GM12892	blood:	n/a
25	chr1:155658576-155658626	Jurkat	blood:	n/a
26	chr1:155659247-155659297	HRPEpiC	eye:	n/a
27	chr1:155659719-155659769	HEK293	kidney:	embryo
28	chr1:155659247-155659297	GM12892	blood:	n/a
29	chr1:155659194-155659244	Hepatocyte	liver:	n/a
30	chr1:155658509-155658559	GM12891	blood:	n/a
31	chr1:155658509-155658559	NB4	blood:	n/a
32	chr1:155659194-155659244	GM12892	blood:	n/a
33	chr1:155658933-155658983	A549	lung:	n/a
34	chr1:155658835-155658885	SK-N-SH_RA	brain:	n/a
35	chr1:155658843-155658893	SKMC	muscle:	n/a
36	chr1:155659111-155659161	IMR90	lung:	fetal
37	chr1:155658929-155658979	HAEpiC	amniotic membrane:	n/a
38	chr1:155658933-155658983	ovcar-3	ovarian:	n/a
39	chr1:155658701-155658751	CMK	blood:	n/a
40	chr1:155659247-155659297	ProgFib	skin:	n/a
41	chr1:155658843-155658893	H1-hESC	embryonic stem cell:	embryo
42	chr1:155658835-155658885	PrEC	prostate:	n/a
43	chr1:155659194-155659244	NT2-D1	testis:	n/a
44	chr1:155659719-155659769	IMR90	lung:	fetal
45	chr1:155658843-155658893	NHBE	bronchial:	n/a
46	chr1:155663085-155663135	HCT-116	colon:	n/a
47	chr1:155658898-155658948	PFSK-1	brain:	n/a
48	chr1:155658843-155658893	HepG2	liver:	n/a
49	chr1:155659719-155659769	ovcar-3	ovarian:	n/a
50	chr1:155659247-155659297	SK-N-SH_RA	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155658491..155659047-chr12:49658493..49659361,2	Hela-S3	cervix:
2	chr1:155627727..155629837-chr1:155664678..155666781,2	MCF-7	breast:
3	chr1:155098358..155100782-chr1:155664787..155667283,2	K562	blood:
4	chr1:155662296..155664287-chr1:155670196..155672385,2	MCF-7	breast:
5	chr1:155656893..155661917-chr1:155662515..155668604,13	MCF-7	breast:
6	chr1:155532102..155532798-chr1:155657720..155658726,4	NB4	blood:
7	chr1:155658521..155660214-chr1:164740544..164742861,2	MCF-7	breast:
8	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
9	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
10	chr1:155658041..155658876-chr9:75766420..75767093,2	Hela-S3	cervix:
11	chr1:155660408..155662039-chr1:156023263..156025493,2	K562	blood:
12	chr1:155658041..155658957-chr2:61243850..61244532,2	Hela-S3	cervix:
13	chr1:155532088..155532960-chr1:155658209..155658720,2	MCF-7	breast:
14	chr1:155657577..155658554-chr17:56736530..56737192,2	MCF-7	breast:
15	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
16	chr1:155656565..155660782-chr1:155662182..155667108,10	MCF-7	breast:
17	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
18	chr1:155658615..155659548-chr3:138312824..138313654,2	Hela-S3	cervix:
19	chr1:155647841..155650282-chr1:155658064..155659902,2	MCF-7	breast:
20	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
21	chr1:155532081..155532969-chr1:155658202..155658825,5	HCT-116	colon:
22	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
23	chr1:155658633..155662039-chr1:156022948..156025065,3	K562	blood:
24	chr1:155293644..155295180-chr1:155658200..155659752,2	MCF-7	breast:
25	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:
26	chr1:155657873..155658675-chr15:91415725..91416297,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAP3-1	chr1:155658886-155659418	NONHSAT006758
2	lnc-DAP3-1	chr1:155658630-155659128	NONHSAT006756

No data

Variant related genes	Relation type
DAP3	TF binding region
YY1AP1	TF binding region
DAP3	CpG island
YY1AP1	CpG island
ENSG00000140564	chromatin interactions
ENSG00000162928	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000116580	chromatin interactions
ENSG00000116586	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000114107	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000160803	chromatin interactions
ENSG00000185630	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000116539	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000235919	chromatin interactions
ENSG00000132676	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000162927	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000135046	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115908216	chr1:155658534-155658535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs560678874	chr1:155658539-155658540	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs535731792	chr1:155658553-155658554	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs181621149	chr1:155658600-155658601	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs184902288	chr1:155658601-155658602	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs572593060	chr1:155658610-155658611	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs546473729	chr1:155658618-155658619	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs374163667	chr1:155658666-155658667	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
9	rs512551	chr1:155658672-155658673	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532041441	chr1:155658693-155658694	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
11	rs373858221	chr1:155658694-155658695	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
12	rs543380974	chr1:155658698-155658699	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
13	rs376878473	chr1:155658701-155658702	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
14	rs371563232	chr1:155658704-155658705	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
15	rs368291594	chr1:155658713-155658714	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
16	rs34413968	chr1:155658722-155658723	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
17	rs375716262	chr1:155658729-155658730	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
18	rs150181705	chr1:155658730-155658731	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
19	rs147058489	chr1:155658766-155658767	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
20	rs369751610	chr1:155658782-155658783	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
21	rs372502183	chr1:155658812-155658813	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
22	rs41264949	chr1:155658864-155658865	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
23	rs529680175	chr1:155658881-155658882	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
24	rs117182857	chr1:155658895-155658896	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
25	rs189413971	chr1:155658910-155658911	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
26	rs181055129	chr1:155658914-155658915	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
27	rs41264951	chr1:155658928-155658929	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
28	rs555991092	chr1:155658937-155658938	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
29	rs4824	chr1:155658940-155658941	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
30	rs559794230	chr1:155658956-155658957	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
31	rs41264953	chr1:155659044-155659045	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
32	rs553958470	chr1:155659062-155659063	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
33	rs369012638	chr1:155659075-155659076	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
34	rs662116	chr1:155659119-155659120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558348400	chr1:155659187-155659188	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
36	rs185069428	chr1:155659209-155659210	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
37	rs41264955	chr1:155659232-155659233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
38	rs674003	chr1:155659290-155659291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
39	rs375946990	chr1:155659293-155659294	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
40	rs554757874	chr1:155659298-155659299	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	rs673988	chr1:155659308-155659309	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	rs561733063	chr1:155659373-155659374	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
43	rs529287070	chr1:155659375-155659376	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	rs541122214	chr1:155659387-155659388	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
45	rs142777941	chr1:155659401-155659402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
46	rs147402512	chr1:155659402-155659403	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs552052454	chr1:155659436-155659437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs371653645	chr1:155659438-155659439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs564326608	chr1:155659461-155659462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs190997638	chr1:155659487-155659488	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	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
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD

Chromatin state (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
3	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
4	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
7	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:155656400-155659400	Active TSS	Ovary	ovary
9	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:155656400-155659800	Active TSS	Thymus	Thymus
14	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
15	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
16	chr1:155656400-155660200	Active TSS	HSMM	muscle
17	chr1:155656400-155660200	Active TSS	NHLF	lung
18	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:155656600-155659200	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:155656600-155659200	Active TSS	Adipose Nuclei	Adipose
21	chr1:155656600-155659600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:155656600-155659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:155656600-155659600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:155656600-155659600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:155656600-155659600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:155656600-155659600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:155656600-155659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:155656600-155659600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:155656600-155659600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:155656600-155659600	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:155656600-155659600	Active TSS	Osteobl	bone
32	chr1:155656600-155659800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:155656600-155659800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:155656600-155659800	Active TSS	Brain Hippocampus Middle	brain
35	chr1:155656600-155659800	Active TSS	Fetal Intestine Small	intestine
36	chr1:155656600-155659800	Active TSS	Stomach Smooth Muscle	stomach
37	chr1:155656600-155659800	Active TSS	HMEC	breast
38	chr1:155656600-155659800	Active TSS	NH-A	brain
39	chr1:155656600-155660000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155656600-155660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:155656600-155660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:155656600-155660000	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:155656600-155660000	Active TSS	A549	lung
44	chr1:155656600-155660000	Active TSS	Hela-S3	cervix
45	chr1:155656600-155660000	Active TSS	K562	blood
46	chr1:155656600-155660000	Active TSS	NHEK	skin
47	chr1:155656600-155660200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:155656600-155660200	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:155656800-155659200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:155656800-155659600	Active TSS	Cortex derived primary cultured neurospheres	brain

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