Variant report

Variant	esv3339331
Chromosome Location	chr1:154192353-154194901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:828)
CpG islands
(count:916)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:828 , 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	chr1:154192925-154193353	K562	blood:	n/a	n/a
2	ARID3A	chr1:154192865-154193479	HepG2	liver:	n/a	n/a
3	ATF1	chr1:154192965-154193485	K562	blood:	n/a	n/a
4	ATF2	chr1:154192874-154193344	GM12878	blood:	n/a	n/a
5	ATF2	chr1:154192525-154193576	GM12878	blood:	n/a	n/a
6	ATF2	chr1:154192753-154193261	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:154192751-154193336	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:154192970-154193483	H1-hESC	embryonic stem cell:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
9	ATF3	chr1:154192863-154193517	K562	blood:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
10	ATF3	chr1:154192839-154193479	HepG2	liver:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
11	ATF3	chr1:154192701-154193390	A549	lung:	n/a	n/a
12	ATF3	chr1:154192887-154193322	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr1:154192798-154193525	GM12878	blood:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
14	ATF3	chr1:154192921-154193312	HepG2	liver:	n/a	n/a
15	ATF3	chr1:154192487-154193443	A549	lung:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
16	ATF3	chr1:154192819-154193593	K562	blood:	n/a	chr1:154193400-154193420 chr1:154193415-154193424 chr1:154193400-154193409
17	ATF3	chr1:154192939-154193329	GM12878	blood:	n/a	n/a
18	BACH1	chr1:154194071-154194288	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr1:154193102-154193430	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL3	chr1:154192825-154193391	A549	lung:	n/a	n/a
21	BCL3	chr1:154192546-154193287	A549	lung:	n/a	n/a
22	BCLAF1	chr1:154193615-154194348	GM12878	blood:	n/a	n/a
23	BCLAF1	chr1:154193637-154194418	GM12878	blood:	n/a	n/a
24	BCLAF1	chr1:154192509-154193434	GM12878	blood:	n/a	chr1:154193411-154193420
25	BCLAF1	chr1:154192460-154193482	GM12878	blood:	n/a	chr1:154193411-154193420
26	BHLHE40	chr1:154192682-154193846	HepG2	liver:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
27	BHLHE40	chr1:154192587-154194356	K562	blood:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
28	BHLHE40	chr1:154192434-154194069	GM12878	blood:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
29	BHLHE40	chr1:154192935-154193522	HepG2	liver:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
30	BHLHE40	chr1:154192873-154193555	A549	lung:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
31	BHLHE40	chr1:154193000-154193503	HepG2	liver:	n/a	chr1:154193398-154193411 chr1:154193400-154193409 chr1:154193400-154193409 chr1:154193401-154193410
32	BRCA1	chr1:154192768-154193169	GM12878	blood:	n/a	n/a
33	BRCA1	chr1:154192847-154193255	HepG2	liver:	n/a	n/a
34	BRCA1	chr1:154192929-154193410	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr1:154193762-154193939	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr1:154192267-154193504	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr1:154192644-154193495	K562	blood:	n/a	n/a
38	CBX3	chr1:154192750-154193234	K562	blood:	n/a	n/a
39	CBX3	chr1:154194753-154195648	K562	blood:	n/a	n/a
40	CBX3	chr1:154194783-154195370	K562	blood:	n/a	n/a
41	CCNT2	chr1:154192739-154194195	K562	blood:	n/a	chr1:154192796-154192805
42	CEBPB	chr1:154192786-154193266	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:154194194-154194567	IMR90	lung:	n/a	n/a
44	CEBPB	chr1:154192667-154193425	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr1:154192675-154193283	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr1:154192949-154193341	K562	blood:	n/a	n/a
47	CEBPD	chr1:154193670-154194323	K562	blood:	n/a	n/a
48	CEBPD	chr1:154193237-154193875	HepG2	liver:	n/a	n/a
49	CEBPD	chr1:154192779-154193193	HepG2	liver:	n/a	n/a
50	CHD1	chr1:154191005-154195527	IMR90	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154193039-154193089	HUVEC	blood vessel:	n/a
2	chr1:154193039-154193089	HUVEC	blood vessel:	n/a
3	chr1:154193749-154193799	PANC-1	pancreas:	n/a
4	chr1:154192370-154192420	HepG2	liver:	n/a
5	chr1:154193508-154193558	AG09309	skin:	n/a
6	chr1:154193141-154193191	AG04449	skin:	fetal
7	chr1:154193508-154193558	Jurkat	blood:	n/a
8	chr1:154193618-154193668	RPTEC	kidney:	n/a
9	chr1:154192844-154192894	PFSK-1	brain:	n/a
10	chr1:154192370-154192420	Hela-S3	cervix:	n/a
11	chr1:154192509-154192559	PANC-1	pancreas:	n/a
12	chr1:154192352-154192402	SK-N-MC	brain:	n/a
13	chr1:154193269-154193319	CMK	blood:	n/a
14	chr1:154194049-154194099	K562	blood:	n/a
15	chr1:154193730-154193780	HUVEC	blood vessel:	n/a
16	chr1:154193508-154193558	ovcar-3	ovarian:	n/a
17	chr1:154193269-154193319	AG10803	skin:	n/a
18	chr1:154192370-154192420	AG09309	skin:	n/a
19	chr1:154193741-154193791	GM19239	blood:	n/a
20	chr1:154193269-154193319	ECC-1	luminal epithelium:	n/a
21	chr1:154193656-154193706	AG09309	skin:	n/a
22	chr1:154193749-154193799	NHDF-neo	bronchial:	n/a
23	chr1:154193730-154193780	BE2_C	brain:	n/a
24	chr1:154193741-154193791	K562	blood:	n/a
25	chr1:154193730-154193780	HCF	heart:	n/a
26	chr1:154193039-154193089	NH-A	brain:	n/a
27	chr1:154193269-154193319	HRPEpiC	eye:	n/a
28	chr1:154193269-154193319	T-47D	breast:	n/a
29	chr1:154193508-154193558	HEEpiC	esophagus:	n/a
30	chr1:154192844-154192894	HCPEpiC	choroid plexus:	n/a
31	chr1:154193618-154193668	AG09309	skin:	n/a
32	chr1:154193508-154193558	ProgFib	skin:	n/a
33	chr1:154192370-154192420	IMR90	lung:	fetal
34	chr1:154192370-154192420	GM06990	blood:	n/a
35	chr1:154194049-154194099	SAEC	small airway:	n/a
36	chr1:154193618-154193668	NT2-D1	testis:	n/a
37	chr1:154193618-154193668	SK-N-SH	brain:	n/a
38	chr1:154194049-154194099	SKMC	muscle:	n/a
39	chr1:154194049-154194099	BE2_C	brain:	n/a
40	chr1:154193618-154193668	HRCEpiC	kidney:	n/a
41	chr1:154193141-154193191	HCPEpiC	choroid plexus:	n/a
42	chr1:154192844-154192894	Hela-S3	cervix:	n/a
43	chr1:154193039-154193089	HMEC	breast:	n/a
44	chr1:154193730-154193780	GM12891	blood:	n/a
45	chr1:154192370-154192420	PrEC	prostate:	n/a
46	chr1:154192352-154192402	SAEC	small airway:	n/a
47	chr1:154193508-154193558	K562	blood:	n/a
48	chr1:154193039-154193089	RPTEC	kidney:	n/a
49	chr1:154193730-154193780	NHBE	bronchial:	n/a
50	chr1:154193141-154193191	NHDF-neo	bronchial:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153939104..153942755-chr1:154191760..154194945,4	MCF-7	breast:
2	chr1:154193234..154193810-chr16:10837657..10838316,2	Hela-S3	cervix:
3	chr1:154191445..154194835-chr1:154242300..154245672,3	MCF-7	breast:
4	chr1:154192341..154194171-chr1:155106625..155108137,2	MCF-7	breast:
5	chr1:154149113..154161877-chr1:154185436..154196776,24	K562	blood:
6	chr1:154194086..154195833-chr1:154296026..154297621,2	K562	blood:
7	chr1:154192739..154193244-chr5:40834885..40835603,2	Hela-S3	cervix:
8	chr1:154192113..154194391-chr1:154233712..154235867,2	MCF-7	breast:
9	chr1:154191724..154193429-chr1:154244687..154246204,2	MCF-7	breast:
10	chr1:154190796..154197109-chr1:154207892..154217963,21	MCF-7	breast:
11	chr1:154192757..154194953-chr1:154301046..154303668,3	MCF-7	breast:
12	chr1:153961938..153967162-chr1:154189861..154195978,9	K562	blood:
13	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
14	chr1:154193867..154196410-chr1:154304631..154306238,2	K562	blood:
15	chr1:154194086..154195906-chr1:154295331..154297621,3	K562	blood:
16	chr1:153916668..153920266-chr1:154191885..154196472,6	MCF-7	breast:
17	chr1:154151605..154157694-chr1:154191153..154195788,18	MCF-7	breast:
18	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
19	chr1:154190385..154194245-chr1:155097625..155102022,4	MCF-7	breast:
20	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
21	chr1:154191216..154193063-chr1:154472171..154474701,2	K562	blood:
22	chr1:154171859..154174380-chr1:154194428..154197108,2	MCF-7	breast:
23	chr1:154191842..154194909-chr1:154241050..154247826,7	K562	blood:
24	chr1:154192363..154193240-chr17:56756354..56757067,2	Hela-S3	cervix:
25	chr1:154192820..154193810-chr5:90676348..90676889,2	Hela-S3	cervix:
26	chr1:154166360..154171923-chr1:154189576..154194577,9	K562	blood:
27	chr1:154154882..154155770-chr1:154193496..154194903,4	Hela-S3	cervix:
28	chr1:154192034..154195055-chr1:154237858..154241372,4	MCF-7	breast:
29	chr1:154161897..154165113-chr1:154191510..154194039,3	K562	blood:
30	chr1:154194303..154196479-chr1:154230537..154232056,2	MCF-7	breast:
31	chr1:154192604..154193245-chr14:54955393..54956122,2	Hela-S3	cervix:
32	chr1:154193460..154194087-chr14:75745121..75745761,2	NB4	blood:
33	chr1:154193467..154195403-chr1:154225048..154228956,3	MCF-7	breast:
34	chr1:154192785..154193749-chr3:12705163..12705859,2	Hela-S3	cervix:
35	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:
36	chr1:154153643..154157449-chr1:154190048..154195510,8	K562	blood:
37	chr1:154192524..154195187-chr1:154232740..154234753,2	MCF-7	breast:
38	chr1:153936330..153941464-chr1:154191669..154195552,8	MCF-7	breast:
39	chr1:154191464..154193287-chr1:154226993..154231169,3	MCF-7	breast:
40	chr1:154193886..154194782-chr16:89989345..89990188,2	Hela-S3	cervix:
41	chr1:154148286..154150697-chr1:154192561..154194921,2	MCF-7	breast:
42	chr1:154191694..154194971-chr1:154228810..154231860,3	K562	blood:
43	chr1:154191694..154195364-chr1:154228810..154233315,6	K562	blood:
44	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
45	chr1:154193523..154195040-chr16:2203296..2205907,2	MCF-7	breast:
46	chr1:154191996..154194542-chr1:154375833..154378809,3	MCF-7	breast:
47	chr1:154193004..154193840-chr7:139044298..139045165,2	Hela-S3	cervix:
48	chr1:154193084..154193944-chr19:39897325..39898041,2	Hela-S3	cervix:
49	chr1:153962946..153964681-chr1:154191539..154193335,3	MCF-7	breast:

No data

Variant related genes	Relation type
UBAP2L	TF binding region
C1orf43	TF binding region
UBAP2L	CpG island
C1orf43	CpG island
ENSG00000197045	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000160712	chromatin interactions
ENSG00000143612	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000143569	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000143575	chromatin interactions
ENSG00000143515	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000169242	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000169291	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000206630	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000163239	chromatin interactions
ENSG00000215938	chromatin interactions
ENSG00000143595	chromatin interactions
ENSG00000132155	chromatin interactions
ENSG00000143549	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000103274	chromatin interactions
ENSG00000201129	chromatin interactions
ENSG00000198837	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000252817	chromatin interactions
ENSG00000273026	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000163263	chromatin interactions
ENSG00000170345	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377453150	chr1:154192353-154192354	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs540868389	chr1:154192365-154192366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
3	rs148815648	chr1:154192399-154192400	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
4	rs200832138	chr1:154192429-154192430	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs77669817	chr1:154192449-154192450	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs201885596	chr1:154192458-154192459	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
7	rs551231942	chr1:154192463-154192464	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs397793881	chr1:154192473-154192474	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
9	rs200230586	chr1:154192474-154192475	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
10	rs113232145	chr1:154192496-154192497	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
11	rs59310765	chr1:154192597-154192598	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549495292	chr1:154192598-154192599	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
13	rs12087877	chr1:154192609-154192610	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
14	rs115612322	chr1:154192610-154192611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs370850706	chr1:154192619-154192620	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
16	rs546863511	chr1:154192623-154192624	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
17	rs372405388	chr1:154192652-154192653	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
18	rs182456089	chr1:154192668-154192669	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
19	rs539363198	chr1:154192687-154192688	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs187712710	chr1:154192745-154192746	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs576117896	chr1:154192753-154192754	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs75107105	chr1:154192768-154192769	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
23	rs143438903	chr1:154192782-154192783	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
24	rs199795177	chr1:154192789-154192790	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs368781363	chr1:154192805-154192806	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs573636657	chr1:154192806-154192807	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs147570400	chr1:154192822-154192823	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs555056807	chr1:154192845-154192846	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs142062765	chr1:154192860-154192861	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs370072625	chr1:154192894-154192895	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs373644399	chr1:154192906-154192907	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs367742696	chr1:154192929-154192930	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs375001187	chr1:154192937-154192938	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs373879246	chr1:154192950-154192951	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs577368300	chr1:154192999-154193000	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs544910425	chr1:154193006-154193007	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs563231443	chr1:154193010-154193011	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs530979752	chr1:154193012-154193013	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs574997743	chr1:154193043-154193044	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs561467028	chr1:154193050-154193051	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs113688023	chr1:154193065-154193066	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs541019609	chr1:154193066-154193067	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs547024002	chr1:154193129-154193130	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
44	rs145904287	chr1:154193130-154193131	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
45	rs115067619	chr1:154193134-154193135	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
46	rs116446449	chr1:154193135-154193136	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
47	rs569546904	chr1:154193152-154193153	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
48	rs537094442	chr1:154193158-154193159	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
49	rs555080441	chr1:154193168-154193169	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
50	rs567209028	chr1:154193170-154193171	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Ewing''s sarcoma	21437220	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	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
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
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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
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
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154190400-154192400	Transcr. at gene 5' and 3'	K562	blood
2	chr1:154190800-154192400	Transcr. at gene 5' and 3'	A549	lung
3	chr1:154190800-154192400	Transcr. at gene 5' and 3'	NHEK	skin
4	chr1:154190800-154193000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:154191000-154192400	Flanking Active TSS	Rectal Smooth Muscle	rectum
6	chr1:154191000-154192800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr1:154191000-154193000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
8	chr1:154191000-154193000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
9	chr1:154191200-154192400	Flanking Active TSS	HUVEC	blood vessel
10	chr1:154191400-154192400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:154191400-154192400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:154191400-154192400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
13	chr1:154191400-154192400	Enhancers	Spleen	Spleen
14	chr1:154191400-154192600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr1:154191400-154192600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr1:154191400-154192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:154191400-154193000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:154191400-154193000	Transcr. at gene 5' and 3'	Fetal Lung	lung
20	chr1:154191600-154192400	Flanking Active TSS	Liver	Liver
21	chr1:154191600-154192400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr1:154191600-154192400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr1:154191600-154192400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:154191600-154192400	Flanking Active TSS	Fetal Brain Female	brain
25	chr1:154191600-154192400	Flanking Active TSS	Thymus	Thymus
26	chr1:154191600-154192600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:154191600-154192600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:154191600-154192600	Active TSS	Right Atrium	heart
29	chr1:154191600-154192600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:154191600-154192800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:154191600-154194400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr1:154191600-154194600	Active TSS	Fetal Intestine Large	intestine
33	chr1:154191600-154194600	Active TSS	Pancreas	Pancrea
34	chr1:154191600-154194800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:154191600-154194800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:154191600-154194800	Active TSS	Left Ventricle	heart
37	chr1:154191600-154195000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:154191600-154195000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:154191600-154195000	Active TSS	Psoas Muscle	Psoas
40	chr1:154191600-154195200	Active TSS	Right Ventricle	heart
41	chr1:154191600-154195400	Active TSS	GM12878-XiMat	blood
42	chr1:154191800-154192400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:154191800-154192400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:154191800-154192400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr1:154191800-154192400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:154191800-154192400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:154191800-154192400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr1:154191800-154192400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:154191800-154192400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr1:154191800-154192400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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