Variant report

Variant	esv3442048
Chromosome Location	chr12:64844710-64847258
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	chr12:64845602-64846870	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:64844757-64845111	K562	blood:	n/a	n/a
3	ARID3A	chr12:64846525-64847788	K562	blood:	n/a	n/a
4	ARID3A	chr12:64845379-64846201	K562	blood:	n/a	n/a
5	ATF1	chr12:64846589-64847071	K562	blood:	n/a	n/a
6	ATF2	chr12:64844984-64845316	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:64845522-64846111	GM12878	blood:	n/a	n/a
8	ATF3	chr12:64845694-64846036	HepG2	liver:	n/a	chr12:64846002-64846011 chr12:64845856-64845876
9	ATF3	chr12:64845630-64846073	H1-hESC	embryonic stem cell:	n/a	chr12:64846002-64846011 chr12:64845856-64845876
10	ATF3	chr12:64845677-64846179	K562	blood:	n/a	chr12:64846095-64846104 chr12:64846002-64846011 chr12:64845856-64845876 chr12:64846089-64846098
11	ATF3	chr12:64846613-64847103	K562	blood:	n/a	n/a
12	ATF3	chr12:64845423-64846080	A549	lung:	n/a	chr12:64846002-64846011 chr12:64845856-64845876
13	ATF3	chr12:64845574-64846120	H1-hESC	embryonic stem cell:	n/a	chr12:64846095-64846104 chr12:64846002-64846011 chr12:64845856-64845876 chr12:64846089-64846098
14	ATF3	chr12:64845538-64846144	A549	lung:	n/a	chr12:64846095-64846104 chr12:64846002-64846011 chr12:64845856-64845876 chr12:64846089-64846098
15	ATF3	chr12:64845749-64845967	GM12878	blood:	n/a	chr12:64845856-64845876
16	ATF3	chr12:64845527-64845971	HepG2	liver:	n/a	chr12:64845856-64845876
17	ATF3	chr12:64845433-64846106	GM12878	blood:	n/a	chr12:64846095-64846104 chr12:64846002-64846011 chr12:64845856-64845876 chr12:64846089-64846098
18	ATF3	chr12:64845459-64846220	K562	blood:	n/a	chr12:64846095-64846104 chr12:64846002-64846011 chr12:64845856-64845876 chr12:64846089-64846098
19	BACH1	chr12:64845003-64847105	H1-hESC	embryonic stem cell:	n/a	chr12:64846922-64846936
20	BACH1	chr12:64845581-64847263	K562	blood:	n/a	chr12:64846922-64846936
21	BATF	chr12:64845840-64846272	GM12878	blood:	n/a	chr12:64846077-64846088
22	BCL3	chr12:64845264-64846449	A549	lung:	n/a	chr12:64846031-64846044 chr12:64845946-64845955 chr12:64846240-64846253 chr12:64845979-64845992 chr12:64845897-64845906 chr12:64845415-64845424 chr12:64845792-64845801 chr12:64846090-64846099
23	BCL3	chr12:64845476-64846299	GM12878	blood:	n/a	chr12:64846031-64846044 chr12:64845946-64845955 chr12:64846240-64846253 chr12:64845979-64845992 chr12:64845897-64845906 chr12:64845792-64845801 chr12:64846090-64846099
24	BCL3	chr12:64844749-64845980	A549	lung:	n/a	chr12:64844797-64844806 chr12:64845946-64845955 chr12:64845897-64845906 chr12:64845415-64845424 chr12:64845792-64845801
25	BCLAF1	chr12:64845716-64846501	K562	blood:	n/a	chr12:64846031-64846044 chr12:64845946-64845955 chr12:64846240-64846253 chr12:64845979-64845992 chr12:64845897-64845906 chr12:64845792-64845801 chr12:64846090-64846099
26	BCLAF1	chr12:64845441-64846142	GM12878	blood:	n/a	chr12:64846031-64846044 chr12:64845946-64845955 chr12:64845979-64845992 chr12:64845897-64845906 chr12:64845792-64845801 chr12:64846090-64846099
27	BHLHE40	chr12:64845674-64845960	HepG2	liver:	n/a	chr12:64845844-64845860
28	BHLHE40	chr12:64845374-64847052	GM12878	blood:	n/a	chr12:64845844-64845860 chr12:64845978-64845994 chr12:64846235-64846251
29	BHLHE40	chr12:64845466-64846261	HepG2	liver:	n/a	chr12:64845844-64845860 chr12:64845978-64845994 chr12:64846235-64846251
30	BHLHE40	chr12:64846628-64847262	K562	blood:	n/a	n/a
31	BHLHE40	chr12:64845412-64846372	K562	blood:	n/a	chr12:64845844-64845860 chr12:64845978-64845994 chr12:64846235-64846251
32	BRCA1	chr12:64845050-64845242	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr12:64844998-64845043	GM12878	blood:	n/a	n/a
34	BRCA1	chr12:64845597-64845936	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr12:64845452-64846322	K562	blood:	n/a	n/a
36	CCNT2	chr12:64844899-64845203	K562	blood:	n/a	n/a
37	CCNT2	chr12:64845449-64847066	K562	blood:	n/a	chr12:64846089-64846098
38	CEBPB	chr12:64845725-64845932	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:64845326-64846224	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr12:64845447-64846068	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr12:64846502-64846899	A549	lung:	n/a	chr12:64846653-64846664
42	CEBPB	chr12:64846464-64846981	MCF-7	breast:	n/a	chr12:64846653-64846664
43	CEBPB	chr12:64846428-64846970	Hela-S3	cervix:	n/a	chr12:64846653-64846664
44	CEBPB	chr12:64845413-64846079	A549	lung:	n/a	n/a
45	CEBPB	chr12:64845075-64845275	K562	blood:	n/a	n/a
46	CEBPB	chr12:64846497-64847047	IMR90	lung:	n/a	chr12:64846653-64846664
47	CEBPB	chr12:64846512-64846907	HepG2	liver:	n/a	chr12:64846653-64846664
48	CEBPD	chr12:64845497-64846256	HepG2	liver:	n/a	n/a
49	CHD1	chr12:64845448-64846832	GM12878	blood:	n/a	chr12:64846003-64846013
50	CHD2	chr12:64845486-64846271	HepG2	liver:	n/a	chr12:64846003-64846013

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64845926-64845976	HNPCEpiC	eye:	n/a
2	chr12:64845926-64845976	NH-A	brain:	n/a
3	chr12:64845926-64845976	HNPCEpiC	eye:	n/a
4	chr12:64845926-64845976	NH-A	brain:	n/a
5	chr12:64845717-64845767	NB4	blood:	n/a
6	chr12:64845451-64845501	HNPCEpiC	eye:	n/a
7	chr12:64847188-64847238	ovcar-3	ovarian:	n/a
8	chr12:64845451-64845501	SK-N-SH	brain:	n/a
9	chr12:64847188-64847238	GM12892	blood:	n/a
10	chr12:64845451-64845501	Jurkat	blood:	n/a
11	chr12:64845769-64845819	AG10803	skin:	n/a
12	chr12:64846210-64846260	LNCaP	prostate:	n/a
13	chr12:64846210-64846260	A549	lung:	n/a
14	chr12:64845769-64845819	HEK293	kidney:	embryo
15	chr12:64845769-64845819	GM06990	blood:	n/a
16	chr12:64845769-64845819	RPTEC	kidney:	n/a
17	chr12:64845936-64845986	GM06990	blood:	n/a
18	chr12:64847188-64847238	U87	brain:	n/a
19	chr12:64845556-64845606	HEK293	kidney:	embryo
20	chr12:64845717-64845767	GM12878	blood:	n/a
21	chr12:64845717-64845767	HNPCEpiC	eye:	n/a
22	chr12:64845717-64845767	AG09319	gingival:	n/a
23	chr12:64845556-64845606	Hepatocyte	liver:	n/a
24	chr12:64845451-64845501	HepG2	liver:	n/a
25	chr12:64845926-64845976	HRPEpiC	eye:	n/a
26	chr12:64845926-64845976	NT2-D1	testis:	n/a
27	chr12:64846210-64846260	BJ	skin:	n/a
28	chr12:64845451-64845501	SK-N-MC	brain:	n/a
29	chr12:64845717-64845767	NHDF-neo	bronchial:	n/a
30	chr12:64845926-64845976	BJ	skin:	n/a
31	chr12:64846210-64846260	T-47D	breast:	n/a
32	chr12:64845769-64845819	CMK	blood:	n/a
33	chr12:64846210-64846260	HRPEpiC	eye:	n/a
34	chr12:64845926-64845976	H1-hESC	embryonic stem cell:	embryo
35	chr12:64845926-64845976	SK-N-SH_RA	brain:	n/a
36	chr12:64845556-64845606	SK-N-SH_RA	brain:	n/a
37	chr12:64845451-64845501	NB4	blood:	n/a
38	chr12:64845769-64845819	GM12891	blood:	n/a
39	chr12:64846210-64846260	PFSK-1	brain:	n/a
40	chr12:64845556-64845606	AG04450	lung:	fetal
41	chr12:64845926-64845976	ProgFib	skin:	n/a
42	chr12:64845556-64845606	K562	blood:	n/a
43	chr12:64845451-64845501	GM12891	blood:	n/a
44	chr12:64845451-64845501	AG09309	skin:	n/a
45	chr12:64847188-64847238	AG09319	gingival:	n/a
46	chr12:64845451-64845501	Hepatocyte	liver:	n/a
47	chr12:64845556-64845606	NHBE	bronchial:	n/a
48	chr12:64845769-64845819	GM12892	blood:	n/a
49	chr12:64845926-64845976	GM06990	blood:	n/a
50	chr12:64845451-64845501	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64846342..64846989-chr2:54342443..54343020,2	Hela-S3	cervix:
2	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
3	chr12:64817684..64820353-chr12:64842113..64845910,3	K562	blood:
4	chr12:64845475..64846067-chr16:2204811..2205751,2	Hela-S3	cervix:
5	chr1:93913672..93914514-chr12:64845363..64846235,2	Hela-S3	cervix:
6	chr12:64845703..64848434-chr12:64888861..64891415,2	MCF-7	breast:
7	chr12:64845382..64847224-chr12:120729437..120730977,2	MCF-7	breast:
8	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
9	chr12:64805977..64807878-chr12:64843024..64845293,2	K562	blood:
10	chr12:64845658..64846400-chr19:39897421..39898419,2	Hela-S3	cervix:
11	chr12:64797372..64804702-chr12:64843540..64848189,12	MCF-7	breast:
12	chr12:64796894..64803590-chr12:64839858..64848176,19	K562	blood:
13	chr12:64846291..64847089-chr17:43225468..43226034,2	Hela-S3	cervix:
14	chr12:64794953..64800786-chr12:64842676..64849530,27	K562	blood:
15	chr12:64845005..64845840-chr5:90678787..90679555,2	Hela-S3	cervix:
16	chr12:64818650..64820353-chr12:64842113..64844792,2	K562	blood:
17	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
18	chr12:53835173..53836169-chr12:64845339..64846089,2	Hela-S3	cervix:
19	chr12:64801684..64804391-chr12:64845532..64847782,2	MCF-7	breast:
20	chr11:18415715..18416570-chr12:64845567..64846239,2	Hela-S3	cervix:
21	chr12:64846496..64847094-chr6:30711660..30712484,2	Hela-S3	cervix:
22	chr12:64845589..64846177-chr3:15643223..15643908,2	Hela-S3	cervix:
23	chr12:64845394..64847984-chr12:65173239..65175891,2	MCF-7	breast:
24	chr12:64845761..64846333-chr5:180618194..180618954,2	Hela-S3	cervix:
25	chr12:64614514..64616589-chr12:64845108..64847445,2	K562	blood:
26	chr12:64796556..64799872-chr12:64845124..64847065,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf56-3	chr12:64845371-64846681	NONHSAT029147

Variant related genes	Relation type
TBK1	TF binding region
TBK1	CpG island
ENSG00000169814	chromatin interactions
ENSG00000134333	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000205352	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000183735	chromatin interactions
ENSG00000153179	chromatin interactions
ENSG00000111490	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000256670	chromatin interactions
ENSG00000197111	chromatin interactions
ENSG00000255566	chromatin interactions
ENSG00000248473	chromatin interactions
ENSG00000131373	chromatin interactions
ENSG00000250222	chromatin interactions
ENSG00000184575	chromatin interactions
ENSG00000174206	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000137942	chromatin interactions
ENSG00000206630	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12367640	chr12:64844712-64844713	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs370359795	chr12:64844774-64844775	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs545939691	chr12:64844798-64844799	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570881560	chr12:64844843-64844844	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs559702501	chr12:64844859-64844860	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs374369286	chr12:64844863-64844864	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs56308954	chr12:64844876-64844877	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs539810131	chr12:64844884-64844885	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs371735474	chr12:64844907-64844908	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs573153305	chr12:64844966-64844967	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs190782591	chr12:64844967-64844968	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs183887182	chr12:64844995-64844996	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs188829917	chr12:64845177-64845178	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs550777488	chr12:64845235-64845236	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs192079975	chr12:64845338-64845339	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs533049679	chr12:64845426-64845427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
17	rs546374778	chr12:64845429-64845430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
18	rs566501040	chr12:64845437-64845438	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
19	rs34762212	chr12:64845475-64845476	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
20	rs574140141	chr12:64845498-64845499	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
21	rs184673073	chr12:64845533-64845534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
22	rs138402172	chr12:64845560-64845561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
23	rs142420370	chr12:64845585-64845586	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
24	rs187132164	chr12:64845639-64845640	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
25	rs146861571	chr12:64845640-64845641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
26	rs531763424	chr12:64845641-64845642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
27	rs553530592	chr12:64845645-64845646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
28	rs557994298	chr12:64845653-64845654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
29	rs571310362	chr12:64845707-64845708	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
30	rs61933190	chr12:64845715-64845716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553183020	chr12:64845800-64845801	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
32	rs573225756	chr12:64845810-64845811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
33	rs541800152	chr12:64845844-64845845	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
34	rs555307118	chr12:64845847-64845848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
35	rs61933191	chr12:64845867-64845868	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544456975	chr12:64845898-64845899	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
37	rs141593283	chr12:64845918-64845919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
38	rs371081661	chr12:64845934-64845935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
39	rs540354758	chr12:64845938-64845939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
40	rs559968556	chr12:64845960-64845961	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
41	rs528966361	chr12:64845961-64845962	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
42	rs374489443	chr12:64845963-64845964	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
43	rs568831919	chr12:64845981-64845982	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
44	rs554477692	chr12:64846021-64846022	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
45	rs556474051	chr12:64846086-64846087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
46	rs551386165	chr12:64846089-64846090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
47	rs375840576	chr12:64846128-64846129	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
48	rs571460129	chr12:64846169-64846170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
49	rs61933192	chr12:64846225-64846226	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536965478	chr12:64846244-64846245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64803800-64844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:64821600-64845000	Weak transcription	Stomach Mucosa	stomach
3	chr12:64828600-64845000	Weak transcription	Colonic Mucosa	Colon
4	chr12:64828800-64844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:64830800-64845000	Weak transcription	Spleen	Spleen
6	chr12:64831000-64845000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:64831000-64845400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:64831000-64845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:64831000-64845400	Weak transcription	Small Intestine	intestine
10	chr12:64833600-64844800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:64834200-64844800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:64835400-64844800	Weak transcription	Fetal Brain Male	brain
13	chr12:64836800-64844800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:64837400-64845000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:64837400-64845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:64837400-64845000	Weak transcription	Aorta	Aorta
17	chr12:64837400-64845000	Weak transcription	Gastric	stomach
18	chr12:64837400-64845000	Weak transcription	Pancreas	Pancrea
19	chr12:64837400-64845000	Weak transcription	Thymus	Thymus
20	chr12:64837600-64845000	Weak transcription	Ovary	ovary
21	chr12:64837600-64845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:64840600-64844800	Weak transcription	Primary B cells from cord blood	blood
23	chr12:64840800-64844800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:64841000-64845000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:64841200-64844800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:64841200-64845000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:64841200-64845200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:64841600-64845000	Weak transcription	Esophagus	oesophagus
29	chr12:64841600-64845000	Weak transcription	Fetal Stomach	stomach
30	chr12:64841600-64845400	Weak transcription	Lung	lung
31	chr12:64842000-64844800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:64842000-64844800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:64842000-64844800	Weak transcription	Fetal Brain Female	brain
34	chr12:64842000-64844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:64842000-64844800	Weak transcription	NHLF	lung
36	chr12:64842000-64845000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:64842000-64845000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:64842000-64845000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:64842000-64845000	Weak transcription	Left Ventricle	heart
40	chr12:64842000-64845000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:64842000-64845000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:64842000-64845000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:64842000-64845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:64842000-64845000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:64842200-64844800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:64842200-64844800	Weak transcription	Fetal Lung	lung
47	chr12:64842200-64845000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:64842200-64845000	Weak transcription	Fetal Thymus	thymus
49	chr12:64842400-64844800	Weak transcription	Adipose Nuclei	Adipose
50	chr12:64842400-64845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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