Variant report

Variant	esv3374301
Chromosome Location	chr12:57481510-57484058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:989)
CpG islands
(count:855)
Chromatin interactive
region (count:67)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57483582-57483666	K562	blood:	n/a	n/a
2	ATF2	chr12:57481812-57482635	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:57482156-57482557	GM12878	blood:	n/a	n/a
4	ATF2	chr12:57481421-57481930	GM12878	blood:	n/a	n/a
5	ATF2	chr12:57483440-57484013	GM12878	blood:	n/a	n/a
6	ATF2	chr12:57481502-57482612	GM12878	blood:	n/a	n/a
7	ATF3	chr12:57481738-57482554	A549	lung:	n/a	chr12:57482160-57482169 chr12:57482466-57482486 chr12:57481836-57481856
8	ATF3	chr12:57482350-57482570	K562	blood:	n/a	chr12:57482466-57482486
9	BACH1	chr12:57480672-57482594	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:57483658-57483876	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:57481639-57482621	A549	lung:	n/a	chr12:57481821-57481830 chr12:57482546-57482559
12	BCL3	chr12:57482753-57483406	A549	lung:	n/a	chr12:57482838-57482847 chr12:57482904-57482913 chr12:57483151-57483164
13	BCL3	chr12:57481684-57482606	A549	lung:	n/a	chr12:57481821-57481830 chr12:57482546-57482559
14	BCL3	chr12:57482139-57482615	GM12878	blood:	n/a	chr12:57482546-57482559
15	BCLAF1	chr12:57483493-57483986	GM12878	blood:	n/a	chr12:57483822-57483835
16	BCLAF1	chr12:57481625-57482613	GM12878	blood:	n/a	chr12:57481821-57481830 chr12:57482546-57482559
17	BCLAF1	chr12:57481578-57482627	GM12878	blood:	n/a	chr12:57481821-57481830 chr12:57482546-57482559
18	BHLHE40	chr12:57483772-57483954	K562	blood:	n/a	n/a
19	BHLHE40	chr12:57481865-57482601	A549	lung:	n/a	n/a
20	BHLHE40	chr12:57479841-57482699	GM12878	blood:	n/a	chr12:57481185-57481201 chr12:57481193-57481209
21	BHLHE40	chr12:57483622-57483788	HepG2	liver:	n/a	n/a
22	BHLHE40	chr12:57483506-57483935	GM12878	blood:	n/a	n/a
23	BHLHE40	chr12:57479738-57482993	K562	blood:	n/a	chr12:57481185-57481201 chr12:57481193-57481209
24	BHLHE40	chr12:57481905-57482948	HepG2	liver:	n/a	n/a
25	BRCA1	chr12:57483507-57483513	GM12878	blood:	n/a	n/a
26	BRCA1	chr12:57481312-57482483	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr12:57482239-57482443	GM12878	blood:	n/a	n/a
28	CBX3	chr12:57482722-57483106	K562	blood:	n/a	n/a
29	CBX3	chr12:57481565-57482638	K562	blood:	n/a	n/a
30	CCNT2	chr12:57480353-57481892	K562	blood:	n/a	chr12:57481234-57481243 chr12:57481527-57481536 chr12:57481080-57481089 chr12:57481626-57481635 chr12:57481619-57481628 chr12:57481522-57481531
31	CCNT2	chr12:57482200-57483192	K562	blood:	n/a	chr12:57482440-57482449
32	CCNT2	chr12:57483557-57483860	K562	blood:	n/a	chr12:57483822-57483831
33	CEBPB	chr12:57482011-57482600	A549	lung:	n/a	n/a
34	CEBPB	chr12:57481573-57482640	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr12:57482214-57482610	HepG2	liver:	n/a	n/a
36	CEBPB	chr12:57481996-57482652	MCF-7	breast:	n/a	n/a
37	CEBPB	chr12:57482216-57482598	K562	blood:	n/a	n/a
38	CEBPB	chr12:57481670-57482059	K562	blood:	n/a	n/a
39	CEBPB	chr12:57482227-57482560	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr12:57482210-57482611	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:57481585-57482620	IMR90	lung:	n/a	n/a
42	CEBPB	chr12:57482242-57482584	K562	blood:	n/a	n/a
43	CEBPB	chr12:57481629-57482552	GM12878	blood:	n/a	n/a
44	CEBPB	chr12:57482261-57482539	HepG2	liver:	n/a	n/a
45	CEBPB	chr12:57481528-57482707	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr12:57482173-57482604	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr12:57482190-57482620	A549	lung:	n/a	n/a
48	CEBPB	chr12:57481601-57482741	A549	lung:	n/a	n/a
49	CEBPB	chr12:57481518-57482687	MCF-7	breast:	n/a	n/a
50	CEBPB	chr12:57481774-57481871	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57482384-57482434	CMK	blood:	n/a
2	chr12:57482384-57482434	CMK	blood:	n/a
3	chr12:57481609-57481659	RPTEC	kidney:	n/a
4	chr12:57483793-57483843	BE2_C	brain:	n/a
5	chr12:57483108-57483158	PANC-1	pancreas:	n/a
6	chr12:57483631-57483681	U87	brain:	n/a
7	chr12:57482549-57482599	A549	lung:	n/a
8	chr12:57482553-57482603	HCM	heart:	n/a
9	chr12:57482762-57482812	PrEC	prostate:	n/a
10	chr12:57483793-57483843	GM12891	blood:	n/a
11	chr12:57482528-57482578	Caco-2	colon:	n/a
12	chr12:57482528-57482578	SKMC	muscle:	n/a
13	chr12:57482384-57482434	SAEC	small airway:	n/a
14	chr12:57483513-57483563	Jurkat	blood:	n/a
15	chr12:57481903-57481953	SK-N-MC	brain:	n/a
16	chr12:57482384-57482434	T-47D	breast:	n/a
17	chr12:57481609-57481659	SK-N-MC	brain:	n/a
18	chr12:57481609-57481659	NH-A	brain:	n/a
19	chr12:57483631-57483681	MCF-7	breast:	n/a
20	chr12:57483631-57483681	NHDF-neo	bronchial:	n/a
21	chr12:57482553-57482603	RPTEC	kidney:	n/a
22	chr12:57482590-57482640	AG04449	skin:	fetal
23	chr12:57482774-57482824	HCPEpiC	choroid plexus:	n/a
24	chr12:57482590-57482640	HCT-116	colon:	n/a
25	chr12:57483513-57483563	AG04450	lung:	fetal
26	chr12:57481609-57481659	SK-N-SH_RA	brain:	n/a
27	chr12:57482528-57482578	PFSK-1	brain:	n/a
28	chr12:57482384-57482434	Caco-2	colon:	n/a
29	chr12:57483513-57483563	NB4	blood:	n/a
30	chr12:57483108-57483158	HCT-116	colon:	n/a
31	chr12:57482553-57482603	NH-A	brain:	n/a
32	chr12:57482549-57482599	AG10803	skin:	n/a
33	chr12:57482590-57482640	SK-N-SH_RA	brain:	n/a
34	chr12:57482528-57482578	AG04450	lung:	fetal
35	chr12:57481903-57481953	AoSMC	blood vessel:	n/a
36	chr12:57483793-57483843	AG04450	lung:	fetal
37	chr12:57481903-57481953	K562	blood:	n/a
38	chr12:57481609-57481659	HRCEpiC	kidney:	n/a
39	chr12:57483108-57483158	HEK293	kidney:	embryo
40	chr12:57482553-57482603	BJ	skin:	n/a
41	chr12:57483793-57483843	HUVEC	blood vessel:	n/a
42	chr12:57482384-57482434	HMEC	breast:	n/a
43	chr12:57482762-57482812	H1-hESC	embryonic stem cell:	embryo
44	chr12:57482538-57482588	PFSK-1	brain:	n/a
45	chr12:57483631-57483681	Caco-2	colon:	n/a
46	chr12:57482590-57482640	RPTEC	kidney:	n/a
47	chr12:57482774-57482824	LNCaP	prostate:	n/a
48	chr12:57482549-57482599	AG09319	gingival:	n/a
49	chr12:57483108-57483158	HEEpiC	esophagus:	n/a
50	chr12:57482538-57482588	MCF10A-Er-Src	breast:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:57026457..57031197-chr12:57479410..57483153,5	MCF-7	breast:
2	chr12:57481778..57482507-chr3:119812302..119813196,2	Hela-S3	cervix:
3	chr12:57022390..57024526-chr12:57480119..57483489,4	MCF-7	breast:
4	chr12:57480714..57483772-chr12:57558111..57562184,3	MCF-7	breast:
5	chr12:57483952..57486497-chr12:57580881..57583064,2	K562	blood:
6	chr12:57115452..57117913-chr12:57483111..57485379,2	K562	blood:
7	chr12:57482485..57484872-chr12:57623536..57625179,2	MCF-7	breast:
8	chr12:57393282..57404587-chr12:57480276..57487045,17	MCF-7	breast:
9	chr12:57480730..57482980-chr22:30821436..30824082,2	MCF-7	breast:
10	chr12:57028665..57030374-chr12:57480509..57482064,2	K562	blood:
11	chr12:57480991..57481541-chr17:62971732..62972671,2	Hela-S3	cervix:
12	chr12:56511049..56513507-chr12:57480483..57482738,2	MCF-7	breast:
13	chr12:57482695..57483331-chr12:57504703..57505426,2	Hela-S3	cervix:
14	chr12:57481154..57481806-chr3:5024696..5025683,2	Hela-S3	cervix:
15	chr12:57480385..57481956-chr17:27071782..27073912,2	MCF-7	breast:
16	chr12:57144616..57146221-chr12:57481056..57483916,2	K562	blood:
17	chr12:57480840..57481798-chr20:52209705..52210327,2	Hela-S3	cervix:
18	chr12:57481298..57482246-chr15:91497664..91498506,2	Hela-S3	cervix:
19	chr12:57451485..57454907-chr12:57478514..57481800,3	MCF-7	breast:
20	chr12:56473732..56475652-chr12:57482023..57483860,2	MCF-7	breast:
21	chr12:57482277..57484373-chr12:57520375..57523117,3	MCF-7	breast:
22	chr12:57385703..57388264-chr12:57481294..57482820,2	K562	blood:
23	chr12:57482175..57482736-chr19:39897077..39898067,2	Hela-S3	cervix:
24	chr12:57118215..57120672-chr12:57479913..57482298,4	K562	blood:
25	chr12:57481564..57482544-chr17:8076551..8077091,2	Hela-S3	cervix:
26	chr12:57480219..57483297-chr12:57622863..57624907,4	MCF-7	breast:
27	chr12:57478864..57481857-chr15:89876636..89879186,2	MCF-7	breast:
28	chr12:57480720..57482842-chr12:58137848..58140572,2	MCF-7	breast:
29	chr12:57480767..57481736-chr3:127843064..127843790,2	Hela-S3	cervix:
30	chr12:57481329..57482067-chr17:7387451..7388155,2	Hela-S3	cervix:
31	chr12:57480170..57482164-chr12:57622267..57624511,2	MCF-7	breast:
32	chr12:57482682..57483842-chr12:57504945..57506039,3	MCF-7	breast:
33	chr12:57480031..57482599-chr12:58144777..58147375,2	MCF-7	breast:
34	chr12:57480700..57481681-chr15:60771108..60771719,2	Hela-S3	cervix:
35	chr11:61583939..61584830-chr12:57481915..57482436,2	Hela-S3	cervix:
36	chr12:57480163..57481794-chr12:57559962..57562744,2	MCF-7	breast:
37	chr12:57118003..57119898-chr12:57480309..57484526,4	K562	blood:
38	chr1:161284102..161284624-chr12:57481715..57482320,2	NB4	blood:
39	chr12:53319981..53321515-chr12:57482673..57484495,2	MCF-7	breast:
40	chr12:57480746..57483234-chr12:57915069..57916762,2	MCF-7	breast:
41	chr12:57422175..57424146-chr12:57481515..57483170,2	MCF-7	breast:
42	chr12:57080529..57082220-chr12:57480203..57482961,2	MCF-7	breast:
43	chr12:57471513..57472336-chr12:57480807..57481598,2	Hela-S3	cervix:
44	chr1:26361762..26362643-chr12:57481006..57481634,2	NB4	blood:
45	chr12:57478737..57483929-chr12:57633097..57638164,8	MCF-7	breast:
46	chr12:57481885..57482424-chr20:30192684..30193542,2	Hela-S3	cervix:
47	chr12:57481772..57482283-chr6:26156284..26157226,2	Hela-S3	cervix:
48	chr12:57480620..57481589-chr2:88315529..88316290,2	Hela-S3	cervix:
49	chr12:57481808..57482426-chr6:116574885..116575616,2	HCT-116	colon:
50	chr11:126173346..126174012-chr12:57481744..57482542,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAT6-1	chr12:57481597-57481617	XLOC_010097
2	lnc-NAB2-1	chr12:57481380-57482632	XLOC_009777
3	lnc-STAT6-1	chr12:57481597-57481646	XLOC_010097
4	lnc-STAT6-1	chr12:57481597-57481612	XLOC_010097
5	lnc-STAT6-1	chr12:57481597-57481646	XLOC_010097

No data

Variant related genes	Relation type
NAB2	TF binding region
TMEM194A	TF binding region
NAB2	CpG island
TMEM194A	CpG island
ENSG00000166863	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000166856	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000206630	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000187189	chromatin interactions
ENSG00000237021	chromatin interactions
ENSG00000166295	chromatin interactions
ENSG00000213920	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000198056	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000261441	chromatin interactions
ENSG00000185633	chromatin interactions
ENSG00000110063	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000076604	chromatin interactions
ENSG00000111711	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000260669	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000082701	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000166860	chromatin interactions
ENSG00000242114	chromatin interactions
ENSG00000025423	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000135452	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000138303	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000111817	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000140521	chromatin interactions
ENSG00000123384	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000182199	chromatin interactions
ENSG00000143252	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000208028	chromatin interactions
RPS6KA1	miRNA target sites
H2AFY	miRNA target sites
EIF4H	miRNA target sites

Extended variants
information (count: 88 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550556558	chr12:57481559-57481560	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
2	rs552306970	chr12:57481573-57481574	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
3	rs569007627	chr12:57481580-57481581	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	39 gene(s)	Overlapped CNVs	n/a
4	rs114655691	chr12:57481636-57481637	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
5	rs376704953	chr12:57481657-57481658	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
6	rs566313278	chr12:57481732-57481733	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
7	rs533765447	chr12:57481815-57481816	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
8	rs553045800	chr12:57481903-57481904	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	Overlapped CNVs	n/a
9	rs139457910	chr12:57481924-57481925	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
10	rs535435118	chr12:57481993-57481994	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
11	rs191080523	chr12:57481996-57481997	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
12	rs149679134	chr12:57482000-57482001	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	46 gene(s)	Overlapped CNVs	n/a
13	rs546505323	chr12:57482008-57482009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
14	rs558519685	chr12:57482016-57482017	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
15	rs573474825	chr12:57482017-57482018	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	44 gene(s)	Overlapped CNVs	n/a
16	rs34133820	chr12:57482041-57482042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
17	rs146387928	chr12:57482042-57482043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	45 gene(s)	Overlapped CNVs	n/a
18	rs561584588	chr12:57482082-57482083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
19	rs573680447	chr12:57482126-57482127	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
20	rs543831813	chr12:57482146-57482147	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	42 gene(s)	Overlapped CNVs	n/a
21	rs562517119	chr12:57482250-57482251	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	41 gene(s)	Overlapped CNVs	n/a
22	rs324010	chr12:57482252-57482253	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs2233267	chr12:57482264-57482265	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560062428	chr12:57482295-57482296	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
25	rs527474025	chr12:57482335-57482336	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
26	rs549164048	chr12:57482353-57482354	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
27	rs2233268	chr12:57482377-57482378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
28	rs535961284	chr12:57482381-57482382	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
29	rs550830579	chr12:57482384-57482385	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
30	rs569215498	chr12:57482391-57482392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
31	rs527539806	chr12:57482406-57482407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	Overlapped CNVs	n/a
32	rs558483897	chr12:57482464-57482465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
33	rs540956333	chr12:57482501-57482502	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	30 gene(s)	Overlapped CNVs	n/a
34	rs573592170	chr12:57482542-57482543	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	Overlapped CNVs	n/a
35	rs534341162	chr12:57482576-57482577	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
36	rs183546570	chr12:57482725-57482726	Active TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs185306972	chr12:57482813-57482814	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
38	rs544277888	chr12:57482955-57482956	Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs562471798	chr12:57482979-57482980	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs577215194	chr12:57482997-57482998	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs376352074	chr12:57483028-57483029	Active TSS Flanking 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
42	rs367685577	chr12:57483128-57483129	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs544645093	chr12:57483160-57483161	Active TSS Flanking 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
44	rs189964932	chr12:57483182-57483183	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs2233269	chr12:57483237-57483238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs561379228	chr12:57483335-57483336	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs552965093	chr12:57483342-57483343	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs182922771	chr12:57483396-57483397	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs144526242	chr12:57483465-57483466	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs551052557	chr12:57483497-57483498	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57479800-57482400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr12:57480000-57481600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:57480000-57481800	Active TSS	Brain Angular Gyrus	brain
4	chr12:57480000-57483800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:57480000-57484000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:57480000-57484400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:57480000-57484400	Active TSS	Aorta	Aorta
8	chr12:57480000-57484400	Active TSS	Left Ventricle	heart
9	chr12:57480000-57484400	Active TSS	Right Atrium	heart
10	chr12:57480000-57485200	Active TSS	Psoas Muscle	Psoas
11	chr12:57480200-57481600	Active TSS	Fetal Brain Female	brain
12	chr12:57480200-57481800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:57480200-57481800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:57480200-57481800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:57480200-57482000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:57480200-57482400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr12:57480200-57482400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:57480200-57483800	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr12:57480200-57484000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:57480200-57484000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:57480200-57484000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:57480200-57484000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:57480200-57484400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr12:57480200-57484400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr12:57480200-57484400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:57480200-57484400	Active TSS	Brain Anterior Caudate	brain
27	chr12:57480200-57484400	Active TSS	Lung	lung
28	chr12:57480200-57484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:57480400-57481600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:57480400-57481600	Active TSS	Stomach Smooth Muscle	stomach
31	chr12:57480400-57481800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:57480400-57481800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:57480400-57481800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:57480400-57481800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:57480400-57481800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:57480400-57481800	Active TSS	Liver	Liver
37	chr12:57480400-57481800	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:57480400-57481800	Active TSS	Pancreas	Pancrea
39	chr12:57480400-57481800	Active TSS	GM12878-XiMat	blood
40	chr12:57480400-57481800	Active TSS	Hela-S3	cervix
41	chr12:57480400-57481800	Active TSS	HSMM	muscle
42	chr12:57480400-57481800	Active TSS	HSMMtube	muscle
43	chr12:57480400-57481800	Active TSS	K562	blood
44	chr12:57480400-57481800	Active TSS	NH-A	brain
45	chr12:57480400-57481800	Active TSS	NHDF-Ad	bronchial
46	chr12:57480400-57481800	Active TSS	NHLF	lung
47	chr12:57480400-57482000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:57480400-57482000	Active TSS	Brain Hippocampus Middle	brain
49	chr12:57480400-57482000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr12:57480400-57483600	Active TSS	Spleen	Spleen

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