Variant report

Variant	esv3357843
Chromosome Location	chr12:48212735-48214833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:906)
CpG islands
(count:489)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:48213720-48213906	K562	blood:	n/a	n/a
2	ARID3A	chr12:48214437-48214766	HepG2	liver:	n/a	n/a
3	ATF2	chr12:48213893-48214318	GM12878	blood:	n/a	n/a
4	ATF3	chr12:48214441-48214654	K562	blood:	n/a	n/a
5	ATF3	chr12:48213924-48214846	A549	lung:	n/a	n/a
6	ATF3	chr12:48214333-48214700	K562	blood:	n/a	n/a
7	ATF3	chr12:48214245-48214840	A549	lung:	n/a	n/a
8	BACH1	chr12:48213982-48214032	K562	blood:	n/a	n/a
9	BACH1	chr12:48212898-48213139	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:48213857-48214468	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:48213964-48214805	A549	lung:	n/a	n/a
12	BCL3	chr12:48212620-48213290	A549	lung:	n/a	n/a
13	BCL3	chr12:48213626-48214788	A549	lung:	n/a	chr12:48213960-48213973
14	BCLAF1	chr12:48213613-48214234	GM12878	blood:	n/a	chr12:48213960-48213973
15	BHLHE40	chr12:48214739-48214746	K562	blood:	n/a	n/a
16	BHLHE40	chr12:48213712-48214416	K562	blood:	n/a	n/a
17	BHLHE40	chr12:48213708-48214269	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:48212566-48213218	K562	blood:	n/a	chr12:48213158-48213174
19	BRCA1	chr12:48212873-48213140	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr12:48214082-48214791	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr12:48213621-48214249	K562	blood:	n/a	n/a
22	CBX3	chr12:48212873-48213191	K562	blood:	n/a	n/a
23	CCNT2	chr12:48212793-48214705	K562	blood:	n/a	chr12:48213572-48213581 chr12:48212833-48212842 chr12:48213783-48213792
24	CEBPB	chr12:48213707-48215065	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr12:48213522-48214990	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPD	chr12:48214444-48214734	HepG2	liver:	n/a	n/a
27	CEBPD	chr12:48212963-48213391	HepG2	liver:	n/a	n/a
28	CHD1	chr12:48213968-48214877	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr12:48213802-48214158	GM12878	blood:	n/a	n/a
30	CHD1	chr12:48212967-48213201	GM12878	blood:	n/a	n/a
31	CHD2	chr12:48214622-48214762	K562	blood:	n/a	n/a
32	CHD2	chr12:48214258-48214785	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:48213745-48214045	K562	blood:	n/a	n/a
34	CHD2	chr12:48213712-48213912	GM12878	blood:	n/a	n/a
35	CHD2	chr12:48212579-48213255	HepG2	liver:	n/a	n/a
36	CHD2	chr12:48212473-48213220	GM12878	blood:	n/a	n/a
37	CHD2	chr12:48214024-48214198	HepG2	liver:	n/a	n/a
38	CHD2	chr12:48212553-48212852	K562	blood:	n/a	n/a
39	CHD2	chr12:48212424-48215089	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr12:48214260-48214296	K562	blood:	n/a	n/a
41	CHD2	chr12:48212949-48213212	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:48214476-48214892	A549	lung:	n/a	n/a
43	CREB1	chr12:48213489-48214435	A549	lung:	n/a	n/a
44	CREB1	chr12:48212967-48213467	A549	lung:	n/a	n/a
45	CTBP2	chr12:48214033-48215222	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:48212680-48212830	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:48213884-48213890	GM10248	blood:	n/a	n/a
48	CTCF	chr12:48213000-48213150	GM12864	blood:	n/a	n/a
49	CTCF	chr12:48213840-48213990	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr12:48212966-48213104	Pancreas_OC	pancreas:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48213605-48213655	AG04449	skin:	fetal
2	chr12:48213605-48213655	AG04449	skin:	fetal
3	chr12:48213813-48213863	AG10803	skin:	n/a
4	chr12:48214523-48214573	NHDF-neo	bronchial:	n/a
5	chr12:48213110-48213160	AG09309	skin:	n/a
6	chr12:48213040-48213090	SAEC	small airway:	n/a
7	chr12:48213725-48213775	NHDF-neo	bronchial:	n/a
8	chr12:48214523-48214573	AG09319	gingival:	n/a
9	chr12:48213725-48213775	HCPEpiC	choroid plexus:	n/a
10	chr12:48213813-48213863	U87	brain:	n/a
11	chr12:48214108-48214158	NHDF-neo	bronchial:	n/a
12	chr12:48214187-48214237	HCPEpiC	choroid plexus:	n/a
13	chr12:48214108-48214158	GM12891	blood:	n/a
14	chr12:48213040-48213090	NHBE	bronchial:	n/a
15	chr12:48214108-48214158	IMR90	lung:	fetal
16	chr12:48214108-48214158	NB4	blood:	n/a
17	chr12:48213110-48213160	IMR90	lung:	fetal
18	chr12:48213040-48213090	HCPEpiC	choroid plexus:	n/a
19	chr12:48214187-48214237	AG09309	skin:	n/a
20	chr12:48214523-48214573	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:48214108-48214158	ProgFib	skin:	n/a
22	chr12:48214187-48214237	MCF-7	breast:	n/a
23	chr12:48213605-48213655	PFSK-1	brain:	n/a
24	chr12:48213725-48213775	H1-hESC	embryonic stem cell:	embryo
25	chr12:48214523-48214573	SK-N-SH	brain:	n/a
26	chr12:48214187-48214237	SK-N-MC	brain:	n/a
27	chr12:48213813-48213863	PFSK-1	brain:	n/a
28	chr12:48213725-48213775	SAEC	small airway:	n/a
29	chr12:48214187-48214237	HCM	heart:	n/a
30	chr12:48213605-48213655	Jurkat	blood:	n/a
31	chr12:48214523-48214573	GM12891	blood:	n/a
32	chr12:48214523-48214573	Caco-2	colon:	n/a
33	chr12:48213605-48213655	SK-N-MC	brain:	n/a
34	chr12:48213040-48213090	SKMC	muscle:	n/a
35	chr12:48213040-48213090	A549	lung:	n/a
36	chr12:48213813-48213863	AG09309	skin:	n/a
37	chr12:48214523-48214573	PANC-1	pancreas:	n/a
38	chr12:48213110-48213160	Jurkat	blood:	n/a
39	chr12:48213725-48213775	BJ	skin:	n/a
40	chr12:48213110-48213160	HCF	heart:	n/a
41	chr12:48214108-48214158	HMEC	breast:	n/a
42	chr12:48213605-48213655	U87	brain:	n/a
43	chr12:48214108-48214158	HCM	heart:	n/a
44	chr12:48213110-48213160	NHBE	bronchial:	n/a
45	chr12:48214523-48214573	BE2_C	brain:	n/a
46	chr12:48213605-48213655	HPAEpiC	pulmonary alveolar:	n/a
47	chr12:48213813-48213863	HRE	kidney:	n/a
48	chr12:48213605-48213655	Hepatocyte	liver:	n/a
49	chr12:48213813-48213863	HCF	heart:	n/a
50	chr12:48214523-48214573	IMR90	lung:	fetal

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
2	chr12:48213711..48214326-chr3:170587750..170588493,2	Hela-S3	cervix:
3	chr12:48214553..48215217-chr4:71704540..71705239,2	Hela-S3	cervix:
4	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
5	chr12:48214604..48217518-chr12:48297846..48300533,2	MCF-7	breast:
6	chr12:6643615..6644394-chr12:48214539..48215281,2	Hela-S3	cervix:
7	chr11:61582882..61583588-chr12:48213238..48213807,2	Hela-S3	cervix:
8	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
9	chr12:48165941..48169073-chr12:48212869..48214658,5	MCF-7	breast:
10	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
11	chr12:48213573..48214228-chr7:56119167..56120010,2	Hela-S3	cervix:
12	chr12:48214550..48215216-chr12:48232260..48232928,2	K562	blood:
13	chr12:48170860..48172762-chr12:48213398..48215365,3	MCF-7	breast:
14	chr12:48213161..48214075-chr19:17516053..17516566,2	Hela-S3	cervix:
15	chr12:48141723..48143940-chr12:48213579..48216155,2	MCF-7	breast:
16	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
17	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:
18	chr12:48166096..48168794-chr12:48212793..48215345,3	K562	blood:
19	chr12:48214165..48215059-chr3:14219720..14220575,2	Hela-S3	cervix:
20	chr12:48212892..48213761-chr5:148205735..148206239,2	NB4	blood:
21	chr12:48213696..48214315-chr6:160148175..160149055,2	Hela-S3	cervix:
22	chr12:48184371..48186432-chr12:48213381..48215555,2	MCF-7	breast:
23	chr12:48213645..48214318-chr15:91497979..91498519,2	Hela-S3	cervix:
24	chr12:48213628..48214497-chr12:48222488..48223365,3	Hela-S3	cervix:
25	chr12:48214094..48214594-chr12:90102471..90102972,2	Hela-S3	cervix:
26	chr12:48211668..48213938-chr12:48298192..48300037,2	MCF-7	breast:
27	chr1:53662219..53662719-chr12:48213339..48213840,2	NB4	blood:
28	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
29	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
30	chr12:48214570..48215265-chrX:73834061..73834603,2	Hela-S3	cervix:
31	chr12:48213886..48214566-chr14:53173485..53174188,2	Hela-S3	cervix:
32	chr12:48165387..48167380-chr12:48211794..48213722,3	MCF-7	breast:
33	chr12:48214051..48215050-chr16:88729320..88730007,2	Hela-S3	cervix:
34	chr12:48213827..48214395-chr6:27114575..27115465,2	Hela-S3	cervix:
35	chr12:48166096..48168794-chr12:48212793..48215345,4	K562	blood:
36	chr12:48180097..48182896-chr12:48212671..48214919,5	MCF-7	breast:
37	chr10:104154767..104155540-chr12:48213534..48214363,2	Hela-S3	cervix:
38	chr12:48214779..48215373-chr12:48231061..48231841,2	MCF-7	breast:
39	chr12:48214340..48214979-chr12:115121754..115122514,2	Hela-S3	cervix:
40	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
41	chr1:110880426..110881383-chr12:48213458..48214119,2	Hela-S3	cervix:
42	chr1:145382599..145383425-chr12:48213442..48214824,3	Hela-S3	cervix:
43	chr12:48213261..48213880-chr6:33256853..33257420,2	Hela-S3	cervix:
44	chr12:48213520..48214107-chr15:50978876..50979508,2	Hela-S3	cervix:
45	chr12:48212890..48213816-chr17:5094659..5095485,2	Hela-S3	cervix:
46	chr12:48213554..48216263-chr17:57923656..57925341,2	MCF-7	breast:
47	chr12:48213487..48214096-chr12:51441793..51442565,2	Hela-S3	cervix:
48	chr12:48171729..48173429-chr12:48213188..48215174,2	K562	blood:
49	chr12:48213022..48213958-chr5:34007842..34008625,2	Hela-S3	cervix:
50	chr12:48212981..48215317-chr3:161089373..161090906,2	MCF-7	breast:

No data

Variant related genes	Relation type
HDAC7	TF binding region
HDAC7	CpG island
ENSG00000154767	chromatin interactions
ENSG00000227057	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000140836	chromatin interactions
ENSG00000261879	chromatin interactions
ENSG00000146457	chromatin interactions
ENSG00000131263	chromatin interactions
ENSG00000204220	chromatin interactions
ENSG00000257433	chromatin interactions
ENSG00000269640	chromatin interactions
ENSG00000169252	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000211584	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000271614	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000005175	chromatin interactions
ENSG00000111640	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000079337	chromatin interactions
ENSG00000170860	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000092439	chromatin interactions
ENSG00000157184	chromatin interactions
ENSG00000100519	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000141971	chromatin interactions
ENSG00000260630	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000132463	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000111405	chromatin interactions
ENSG00000180626	chromatin interactions
ENSG00000257488	chromatin interactions
ENSG00000146733	chromatin interactions
ENSG00000146731	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000167508	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000135111	chromatin interactions
ENSG00000111424	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000070961	chromatin interactions
ENSG00000166965	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186162057	chr12:48212737-48212738	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs563626215	chr12:48212777-48212778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs529573267	chr12:48212780-48212781	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs542938072	chr12:48212803-48212804	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs559291843	chr12:48212827-48212828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs369860964	chr12:48212831-48212832	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs528467853	chr12:48212834-48212835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs149907452	chr12:48212859-48212860	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs371418983	chr12:48212894-48212895	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs117473279	chr12:48212937-48212938	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs114141839	chr12:48212945-48212946	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs79887006	chr12:48212946-48212947	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs4760624	chr12:48212947-48212948	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535712152	chr12:48212954-48212955	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs367795812	chr12:48212966-48212967	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs563420822	chr12:48213164-48213165	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs539539164	chr12:48213180-48213181	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs565632597	chr12:48213199-48213200	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs144969799	chr12:48213235-48213236	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs557825578	chr12:48213263-48213264	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs577699924	chr12:48213278-48213279	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs537634730	chr12:48213311-48213312	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs557097042	chr12:48213316-48213317	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
24	rs573915007	chr12:48213333-48213334	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
25	rs148637595	chr12:48213386-48213387	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs563412223	chr12:48213415-48213416	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs559663143	chr12:48213426-48213427	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs573189302	chr12:48213435-48213436	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs545102600	chr12:48213493-48213494	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs565366558	chr12:48213702-48213703	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
31	rs113736796	chr12:48213720-48213721	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
32	rs551077050	chr12:48213729-48213730	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
33	rs563426743	chr12:48213819-48213820	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
34	rs566864150	chr12:48213899-48213900	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
35	rs549289173	chr12:48213909-48213910	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
36	rs11168254	chr12:48213942-48213943	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
37	rs191081329	chr12:48213953-48213954	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
38	rs534588619	chr12:48213962-48213963	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs574227388	chr12:48213967-48213968	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
40	rs80325942	chr12:48213991-48213992	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
41	rs12809651	chr12:48214015-48214016	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
42	rs536717393	chr12:48214062-48214063	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
43	rs556639157	chr12:48214083-48214084	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
44	rs573889753	chr12:48214128-48214129	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
45	rs369681346	chr12:48214138-48214139	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
46	rs115806248	chr12:48214140-48214141	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
47	rs539316462	chr12:48214159-48214160	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs116339043	chr12:48214205-48214206	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
49	rs183418860	chr12:48214212-48214213	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
50	rs565106893	chr12:48214233-48214234	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48210000-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:48210200-48213000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:48210200-48213200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:48210600-48212800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:48210600-48212800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr12:48210600-48212800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr12:48210600-48212800	Flanking Active TSS	NH-A	brain
8	chr12:48210600-48213000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:48210600-48213000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr12:48210600-48213000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:48210600-48213000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:48210600-48213000	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:48210600-48213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:48210600-48213000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:48210600-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:48210600-48213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr12:48210600-48213400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:48210800-48212800	Enhancers	Stomach Mucosa	stomach
19	chr12:48210800-48212800	Flanking Active TSS	Osteobl	bone
20	chr12:48210800-48213000	Flanking Active TSS	HMEC	breast
21	chr12:48210800-48213200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:48210800-48213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48210800-48213200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr12:48211000-48213200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:48211200-48213000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:48211200-48213000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:48211200-48213200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:48211200-48213200	Flanking Active TSS	Colonic Mucosa	Colon
29	chr12:48211400-48213000	Transcr. at gene 5' and 3'	NHLF	lung
30	chr12:48211400-48213200	Enhancers	Fetal Brain Male	brain
31	chr12:48211600-48213000	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:48211600-48214400	Active TSS	Aorta	Aorta
33	chr12:48211600-48214600	Active TSS	Psoas Muscle	Psoas
34	chr12:48211800-48212800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:48211800-48212800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr12:48211800-48212800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:48211800-48212800	Transcr. at gene 5' and 3'	Right Ventricle	heart
38	chr12:48211800-48213000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:48212000-48213000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:48212000-48213000	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr12:48212000-48213000	Flanking Active TSS	Placenta	Placenta
42	chr12:48212000-48214800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr12:48212200-48212800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:48212200-48212800	Flanking Active TSS	Dnd41	blood
45	chr12:48212200-48213000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:48212200-48213000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:48212200-48213000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:48212200-48213000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr12:48212200-48213000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr12:48212200-48213000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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