Variant report

Variant	esv3404012
Chromosome Location	chr13:50698476-50701324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:50699519-50699981	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:50698150-50698673	HepG2	liver:	n/a	n/a
3	ATF1	chr13:50697681-50698824	K562	blood:	n/a	n/a
4	ATF2	chr13:50698303-50698694	H1-hESC	embryonic stem cell:	n/a	chr13:50698630-50698641
5	ATF2	chr13:50698321-50698893	GM12878	blood:	n/a	chr13:50698630-50698641
6	ATF2	chr13:50698349-50698752	GM12878	blood:	n/a	chr13:50698630-50698641
7	ATF2	chr13:50698455-50698760	H1-hESC	embryonic stem cell:	n/a	chr13:50698630-50698641
8	ATF3	chr13:50698497-50698739	K562	blood:	n/a	chr13:50698632-50698639 chr13:50698628-50698639 chr13:50698631-50698639 chr13:50698631-50698642 chr13:50698629-50698642 chr13:50698632-50698643 chr13:50698630-50698641 chr13:50698632-50698640 chr13:50698628-50698641 chr13:50698629-50698642 chr13:50698630-50698643 chr13:50698675-50698684 chr13:50698628-50698643 chr13:50698629-50698639 chr13:50698630-50698641
9	ATF3	chr13:50699770-50700065	HepG2	liver:	n/a	n/a
10	ATF3	chr13:50699540-50699877	K562	blood:	n/a	n/a
11	ATF3	chr13:50698436-50698713	K562	blood:	n/a	chr13:50698632-50698639 chr13:50698628-50698639 chr13:50698631-50698639 chr13:50698631-50698642 chr13:50698629-50698642 chr13:50698632-50698643 chr13:50698630-50698641 chr13:50698632-50698640 chr13:50698628-50698641 chr13:50698629-50698642 chr13:50698630-50698643 chr13:50698675-50698684 chr13:50698628-50698643 chr13:50698629-50698639 chr13:50698630-50698641
12	ATF3	chr13:50699767-50700025	K562	blood:	n/a	n/a
13	BACH1	chr13:50697859-50699579	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr13:50699860-50700283	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr13:50698444-50698719	GM12878	blood:	n/a	chr13:50698629-50698642
16	BATF	chr13:50698397-50698693	GM12878	blood:	n/a	chr13:50698629-50698642
17	BCL3	chr13:50697972-50698716	A549	lung:	n/a	chr13:50698345-50698354 chr13:50698434-50698447 chr13:50698599-50698608
18	BCLAF1	chr13:50698043-50698717	K562	blood:	n/a	chr13:50698345-50698354 chr13:50698434-50698447 chr13:50698599-50698608
19	BCLAF1	chr13:50697937-50698701	GM12878	blood:	n/a	chr13:50698345-50698354 chr13:50698434-50698447 chr13:50698599-50698608
20	BHLHE40	chr13:50699209-50700217	GM12878	blood:	n/a	chr13:50699898-50699911 chr13:50699961-50699977 chr13:50699964-50699980 chr13:50699997-50700013 chr13:50699899-50699908 chr13:50699972-50699988 chr13:50699901-50699910 chr13:50699900-50699909 chr13:50699900-50699909
21	BHLHE40	chr13:50697814-50699093	K562	blood:	n/a	chr13:50698564-50698580 chr13:50698556-50698572 chr13:50698434-50698450 chr13:50698381-50698397
22	BHLHE40	chr13:50699652-50700016	HepG2	liver:	n/a	chr13:50699898-50699911 chr13:50699961-50699977 chr13:50699964-50699980 chr13:50699997-50700013 chr13:50699899-50699908 chr13:50699972-50699988 chr13:50699901-50699910 chr13:50699900-50699909 chr13:50699900-50699909
23	BHLHE40	chr13:50699728-50699997	HepG2	liver:	n/a	chr13:50699898-50699911 chr13:50699961-50699977 chr13:50699964-50699980 chr13:50699899-50699908 chr13:50699972-50699988 chr13:50699901-50699910 chr13:50699900-50699909 chr13:50699900-50699909
24	BHLHE40	chr13:50699511-50700680	HepG2	liver:	n/a	chr13:50699898-50699911 chr13:50699961-50699977 chr13:50699964-50699980 chr13:50699997-50700013 chr13:50699899-50699908 chr13:50699972-50699988 chr13:50699901-50699910 chr13:50699900-50699909 chr13:50699900-50699909
25	BHLHE40	chr13:50699460-50700719	K562	blood:	n/a	chr13:50699898-50699911 chr13:50699961-50699977 chr13:50699964-50699980 chr13:50699997-50700013 chr13:50699899-50699908 chr13:50699972-50699988 chr13:50699901-50699910 chr13:50699900-50699909 chr13:50699900-50699909
26	BHLHE40	chr13:50698093-50699204	HepG2	liver:	n/a	chr13:50698564-50698580 chr13:50698556-50698572 chr13:50698434-50698450 chr13:50698381-50698397
27	BHLHE40	chr13:50698329-50698988	GM12878	blood:	n/a	chr13:50698564-50698580 chr13:50698556-50698572 chr13:50698434-50698450 chr13:50698381-50698397
28	BRCA1	chr13:50698524-50698683	HepG2	liver:	n/a	n/a
29	BRCA1	chr13:50698441-50698780	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr13:50699662-50700053	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr13:50700101-50700742	K562	blood:	n/a	n/a
32	CBX3	chr13:50698333-50699020	K562	blood:	n/a	n/a
33	CBX3	chr13:50699607-50699879	K562	blood:	n/a	n/a
34	CBX3	chr13:50700470-50700722	K562	blood:	n/a	n/a
35	CCNT2	chr13:50697901-50700460	K562	blood:	n/a	chr13:50698574-50698583 chr13:50698346-50698355
36	CEBPB	chr13:50700374-50700734	IMR90	lung:	n/a	n/a
37	CEBPB	chr13:50699574-50699955	MCF-7	breast:	n/a	n/a
38	CEBPB	chr13:50699170-50699954	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr13:50700381-50700681	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr13:50700368-50700739	A549	lung:	n/a	n/a
41	CEBPB	chr13:50700362-50700744	K562	blood:	n/a	n/a
42	CEBPB	chr13:50700384-50700670	K562	blood:	n/a	n/a
43	CEBPB	chr13:50697948-50698756	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr13:50699554-50699895	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr13:50698430-50698772	IMR90	lung:	n/a	n/a
46	CEBPB	chr13:50699567-50699822	HepG2	liver:	n/a	n/a
47	CEBPB	chr13:50699535-50699855	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr13:50699402-50700664	HepG2	liver:	n/a	n/a
49	CEBPB	chr13:50698062-50698731	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr13:50699459-50699962	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:50698635-50698685	PrEC	prostate:	n/a
2	chr13:50698635-50698685	PrEC	prostate:	n/a
3	chr13:50699773-50699823	AG09309	skin:	n/a
4	chr13:50699773-50699823	T-47D	breast:	n/a
5	chr13:50699727-50699777	SKMC	muscle:	n/a
6	chr13:50700845-50700895	NHDF-neo	bronchial:	n/a
7	chr13:50700331-50700381	Jurkat	blood:	n/a
8	chr13:50700606-50700656	SK-N-SH	brain:	n/a
9	chr13:50699806-50699856	AoSMC	blood vessel:	n/a
10	chr13:50699806-50699856	PrEC	prostate:	n/a
11	chr13:50698635-50698685	HRPEpiC	eye:	n/a
12	chr13:50699727-50699777	NHBE	bronchial:	n/a
13	chr13:50699806-50699856	HEEpiC	esophagus:	n/a
14	chr13:50700845-50700895	U87	brain:	n/a
15	chr13:50700606-50700656	HCF	heart:	n/a
16	chr13:50701256-50701306	NT2-D1	testis:	n/a
17	chr13:50700331-50700381	Hela-S3	cervix:	n/a
18	chr13:50700845-50700895	GM06990	blood:	n/a
19	chr13:50700331-50700381	SK-N-SH_RA	brain:	n/a
20	chr13:50699773-50699823	NB4	blood:	n/a
21	chr13:50699776-50699826	NHDF-neo	bronchial:	n/a
22	chr13:50699806-50699856	SK-N-MC	brain:	n/a
23	chr13:50699773-50699823	MCF-7	breast:	n/a
24	chr13:50700331-50700381	SKMC	muscle:	n/a
25	chr13:50700331-50700381	AG09319	gingival:	n/a
26	chr13:50700331-50700381	AoSMC	blood vessel:	n/a
27	chr13:50699806-50699856	Caco-2	colon:	n/a
28	chr13:50700845-50700895	GM19239	blood:	n/a
29	chr13:50700606-50700656	SAEC	small airway:	n/a
30	chr13:50701256-50701306	SK-N-MC	brain:	n/a
31	chr13:50699344-50699394	A549	lung:	n/a
32	chr13:50700606-50700656	HCM	heart:	n/a
33	chr13:50700606-50700656	ECC-1	luminal epithelium:	n/a
34	chr13:50699773-50699823	HUVEC	blood vessel:	n/a
35	chr13:50700606-50700656	HIPEpiC	eye:	n/a
36	chr13:50699806-50699856	PFSK-1	brain:	n/a
37	chr13:50699344-50699394	U87	brain:	n/a
38	chr13:50699344-50699394	LNCaP	prostate:	n/a
39	chr13:50700845-50700895	BE2_C	brain:	n/a
40	chr13:50701256-50701306	SK-N-SH	brain:	n/a
41	chr13:50698635-50698685	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:50700331-50700381	HIPEpiC	eye:	n/a
43	chr13:50700606-50700656	SK-N-MC	brain:	n/a
44	chr13:50699344-50699394	AG10803	skin:	n/a
45	chr13:50699716-50699766	HepG2	liver:	n/a
46	chr13:50701256-50701306	AG04450	lung:	fetal
47	chr13:50701050-50701100	HEK293	kidney:	embryo
48	chr13:50700845-50700895	SAEC	small airway:	n/a
49	chr13:50699776-50699826	GM12892	blood:	n/a
50	chr13:50700331-50700381	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:12677990..12678893-chr13:50698130..50698692,2	Hela-S3	cervix:
2	chr13:50658945..50659888-chr13:50697989..50698542,2	MCF-7	breast:
3	chr13:50676147..50677856-chr13:50697391..50699773,2	MCF-7	breast:
4	chr13:50699976..50701803-chr13:51102949..51104727,2	MCF-7	breast:
5	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:
6	chr13:50699509..50700060-chr2:61764889..61765534,2	NB4	blood:
7	chr13:50698003..50698653-chr15:22833241..22833810,2	NB4	blood:
8	chr13:50421554..50424015-chr13:50696890..50698594,2	K562	blood:
9	chr13:50654073..50663597-chr13:50696674..50702768,25	MCF-7	breast:
10	chr13:50602746..50605620-chr13:50696752..50699195,2	K562	blood:
11	chr13:50698118..50698742-chr3:73159765..73160613,2	Hela-S3	cervix:
12	chr13:50697804..50699328-chr13:50929557..50931227,2	MCF-7	breast:
13	chr13:50672721..50675302-chr13:50698038..50700346,2	K562	blood:
14	chr13:50642440..50645245-chr13:50696883..50698935,2	K562	blood:
15	chr1:155657855..155658631-chr13:50697915..50698694,2	Hela-S3	cervix:
16	chr13:50667173..50669730-chr13:50696420..50698590,2	K562	blood:
17	chr13:50700096..50702357-chr13:50721574..50724200,2	K562	blood:
18	chr13:50569368..50571479-chr13:50698927..50701104,2	MCF-7	breast:
19	chr13:50695987..50698741-chr13:50773838..50775840,2	K562	blood:
20	chr13:50698913..50701877-chr17:56707826..56709440,2	MCF-7	breast:
21	chr13:50697624..50699348-chr13:50762880..50765509,2	K562	blood:
22	chr13:50698334..50698920-chr19:17516084..17517068,2	HCT-116	colon:
23	chr13:50697643..50699321-chr13:50747140..50749271,2	K562	blood:
24	chr13:50696939..50701257-chr13:51483386..51488031,9	K562	blood:
25	chr13:50697681..50699849-chr13:50994691..50997532,2	K562	blood:
26	chr13:50697161..50699455-chr13:51219489..51221158,2	MCF-7	breast:
27	chr13:50697912..50698717-chr3:152879896..152880555,2	Hela-S3	cervix:
28	chr13:50699249..50699999-chr19:48866699..48867529,2	NB4	blood:
29	chr13:50698295..50699102-chr17:57918091..57918703,2	Hela-S3	cervix:
30	chr13:50697261..50699908-chr13:50935542..50937568,2	K562	blood:
31	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
32	chr11:10829786..10830520-chr13:50699784..50700337,2	NB4	blood:
33	chr13:50699751..50700379-chr2:203239793..203240452,2	MCF-7	breast:
34	chr13:50568991..50573569-chr13:50697831..50701767,8	K562	blood:
35	chr13:50509656..50512115-chr13:50697543..50699521,2	K562	blood:
36	chr13:50698611..50701082-chr13:51100302..51101813,2	MCF-7	breast:
37	chr13:50698526..50701372-chr13:50933812..50935948,3	MCF-7	breast:
38	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
39	chr13:50697182..50699802-chr2:74734440..74736539,2	MCF-7	breast:
40	chr13:50698177..50699740-chr13:50938730..50941309,2	MCF-7	breast:
41	chr13:50698329..50699059-chr18:48724159..48725070,2	NB4	blood:
42	chr13:50699752..50700375-chr2:70313380..70314095,2	NB4	blood:
43	chr13:50696984..50702154-chr13:51483455..51488031,9	K562	blood:
44	chr13:50569500..50573569-chr13:50696112..50701767,10	K562	blood:
45	chr13:50696783..50699348-chr13:50762880..50765509,3	K562	blood:
46	chr13:50699687..50700540-chr19:10305003..10305663,2	NB4	blood:
47	chr13:50648761..50651214-chr13:50695521..50698783,3	K562	blood:
48	chr13:50698039..50698709-chr5:177631325..177632017,2	Hela-S3	cervix:
49	chr13:50699189..50701054-chr16:1428158..1429695,2	MCF-7	breast:
50	chr13:50699219..50700050-chr3:12705651..12706196,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD7-1	chr13:50699438-50699677	NONHSAT033777
2	lnc-KCNRG-2	chr13:50699952-50702599	NONHSAT033826
3	lnc-SPRYD7-1	chr13:50699438-50699856	ENSG00000231607

Variant related genes	Relation type
DLEU2	TF binding region
DLEU2	CpG island
ENSG00000161558	chromatin interactions
ENSG00000141971	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000221198	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000269640	chromatin interactions
ENSG00000273456	chromatin interactions
ENSG00000231607	chromatin interactions
ENSG00000265529	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000082898	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000229323	chromatin interactions
ENSG00000123178	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000115289	chromatin interactions
ENSG00000233672	chromatin interactions
ENSG00000163374	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000223676	chromatin interactions
ENSG00000214359	chromatin interactions
ENSG00000181467	chromatin interactions
ENSG00000136104	chromatin interactions
ENSG00000204977	chromatin interactions
ENSG00000132155	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000059145	chromatin interactions
ENSG00000264864	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000176124	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565061848	chr13:50698588-50698589	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
2	rs532318601	chr13:50698612-50698613	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
3	rs547316774	chr13:50698693-50698694	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs559487132	chr13:50698703-50698704	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
5	rs59639252	chr13:50698704-50698705	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
6	rs9535419	chr13:50698776-50698777	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs529817439	chr13:50698798-50698799	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs548166938	chr13:50698816-50698817	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs552740927	chr13:50698889-50698890	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs569682907	chr13:50698898-50698899	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs538509183	chr13:50698938-50698939	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs542775612	chr13:50698996-50698997	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs186713591	chr13:50699021-50699022	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs11618530	chr13:50699032-50699033	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs571878834	chr13:50699043-50699044	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs539222836	chr13:50699047-50699048	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs146340823	chr13:50699049-50699050	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs572169082	chr13:50699081-50699082	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs536364936	chr13:50699086-50699087	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs554515427	chr13:50699089-50699090	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs114258660	chr13:50699163-50699164	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs543486414	chr13:50699178-50699179	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs117501350	chr13:50699267-50699268	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs577110191	chr13:50699278-50699279	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs541172682	chr13:50699296-50699297	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs548321648	chr13:50699305-50699306	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs559596506	chr13:50699376-50699377	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs529778827	chr13:50699420-50699421	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs535921821	chr13:50699429-50699430	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs77357957	chr13:50699452-50699453	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
31	rs112894851	chr13:50699453-50699454	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
32	rs534053613	chr13:50699673-50699674	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
33	rs530508247	chr13:50699724-50699725	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
34	rs551923924	chr13:50699733-50699734	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
35	rs142539865	chr13:50699763-50699764	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
36	rs552558627	chr13:50699799-50699800	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
37	rs571866121	chr13:50699818-50699819	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
38	rs373443505	chr13:50699824-50699825	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
39	rs377687583	chr13:50699839-50699840	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
40	rs538975775	chr13:50699873-50699874	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs572546858	chr13:50700043-50700044	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
42	rs9535420	chr13:50700048-50700049	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
43	rs547938912	chr13:50700066-50700067	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
44	rs530741143	chr13:50700102-50700103	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
45	rs565957063	chr13:50700124-50700125	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
46	rs138198983	chr13:50700126-50700127	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
47	rs112015125	chr13:50700145-50700146	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
48	rs572932759	chr13:50700214-50700215	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
49	rs576170313	chr13:50700242-50700243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
50	rs190535342	chr13:50700250-50700251	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50696400-50698600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr13:50697200-50700400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:50697200-50700400	Active TSS	NHLF	lung
4	chr13:50697400-50700200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:50697400-50700400	Active TSS	Fetal Brain Female	brain
6	chr13:50697400-50700400	Active TSS	Fetal Muscle Leg	muscle
7	chr13:50697400-50700600	Active TSS	Right Ventricle	heart
8	chr13:50697600-50700000	Active TSS	Colonic Mucosa	Colon
9	chr13:50697600-50700200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:50697600-50700200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr13:50697600-50700200	Active TSS	Pancreas	Pancrea
12	chr13:50697600-50700400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr13:50697600-50700400	Active TSS	Placenta	Placenta
14	chr13:50697600-50700600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:50697600-50700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:50697600-50700600	Active TSS	Aorta	Aorta
17	chr13:50697600-50700600	Active TSS	Lung	lung
18	chr13:50697600-50700800	Active TSS	Esophagus	oesophagus
19	chr13:50697600-50700800	Active TSS	Fetal Muscle Trunk	muscle
20	chr13:50697600-50702000	Active TSS	Psoas Muscle	Psoas
21	chr13:50697600-50702000	Active TSS	Right Atrium	heart
22	chr13:50697600-50702200	Active TSS	Left Ventricle	heart
23	chr13:50697800-50698600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:50697800-50698800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:50697800-50699000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:50697800-50699400	Active TSS	Fetal Heart	heart
27	chr13:50697800-50699600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:50697800-50700000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:50697800-50700000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:50697800-50700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:50697800-50700000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
32	chr13:50697800-50700000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr13:50697800-50700200	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr13:50697800-50700200	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr13:50697800-50700200	Active TSS	Fetal Intestine Large	intestine
36	chr13:50697800-50700200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr13:50697800-50700400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:50697800-50700400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:50697800-50700400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:50697800-50700400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:50697800-50700400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr13:50697800-50700400	Active TSS	Small Intestine	intestine
43	chr13:50697800-50700400	Active TSS	Thymus	Thymus
44	chr13:50697800-50700400	Active TSS	NHDF-Ad	bronchial
45	chr13:50697800-50700600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr13:50697800-50700600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr13:50697800-50700600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:50697800-50700600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr13:50697800-50700600	Active TSS	Brain Angular Gyrus	brain
50	chr13:50697800-50700600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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