Variant report

Variant	esv3404223
Chromosome Location	chr12:48212210-48215058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:946)
CpG islands
(count:490)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:946 , 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	chr12:48214245-48214840	A549	lung:	n/a	n/a
6	ATF3	chr12:48213924-48214846	A549	lung:	n/a	n/a
7	ATF3	chr12:48214333-48214700	K562	blood:	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	chr12:48213626-48214788	A549	lung:	n/a	chr12:48213960-48213973
13	BCL3	chr12:48212620-48213290	A549	lung:	n/a	n/a
14	BCLAF1	chr12:48213613-48214234	GM12878	blood:	n/a	chr12:48213960-48213973
15	BHLHE40	chr12:48212566-48213218	K562	blood:	n/a	chr12:48213158-48213174
16	BHLHE40	chr12:48213708-48214269	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:48214739-48214746	K562	blood:	n/a	n/a
18	BHLHE40	chr12:48213712-48214416	K562	blood:	n/a	n/a
19	BRCA1	chr12:48214082-48214791	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr12:48212873-48213140	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr12:48211719-48212241	K562	blood:	n/a	n/a
22	CBX3	chr12:48213621-48214249	K562	blood:	n/a	n/a
23	CBX3	chr12:48212873-48213191	K562	blood:	n/a	n/a
24	CCNT2	chr12:48212793-48214705	K562	blood:	n/a	chr12:48213572-48213581 chr12:48212833-48212842 chr12:48213783-48213792
25	CEBPB	chr12:48213522-48214990	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr12:48213707-48215065	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr12:48212963-48213391	HepG2	liver:	n/a	n/a
28	CEBPD	chr12:48214444-48214734	HepG2	liver:	n/a	n/a
29	CHD1	chr12:48213802-48214158	GM12878	blood:	n/a	n/a
30	CHD1	chr12:48213968-48214877	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr12:48212967-48213201	GM12878	blood:	n/a	n/a
32	CHD2	chr12:48214024-48214198	HepG2	liver:	n/a	n/a
33	CHD2	chr12:48214622-48214762	K562	blood:	n/a	n/a
34	CHD2	chr12:48212553-48212852	K562	blood:	n/a	n/a
35	CHD2	chr12:48212424-48215089	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr12:48214260-48214296	K562	blood:	n/a	n/a
37	CHD2	chr12:48213745-48214045	K562	blood:	n/a	n/a
38	CHD2	chr12:48213712-48213912	GM12878	blood:	n/a	n/a
39	CHD2	chr12:48212579-48213255	HepG2	liver:	n/a	n/a
40	CHD2	chr12:48212473-48213220	GM12878	blood:	n/a	n/a
41	CHD2	chr12:48212949-48213212	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr12:48214258-48214785	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr12:48214476-48214892	A549	lung:	n/a	n/a
44	CREB1	chr12:48213489-48214435	A549	lung:	n/a	n/a
45	CREB1	chr12:48212967-48213467	A549	lung:	n/a	n/a
46	CTBP2	chr12:48214033-48215222	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr12:48212992-48213073	LNCaP	prostate:	n/a	n/a
48	CTCF	chr12:48212940-48213090	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr12:48212940-48213090	HCFaa	heart:	n/a	n/a
50	CTCF	chr12:48213893-48213902	GM10248	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48213725-48213775	SK-N-SH_RA	brain:	n/a
2	chr12:48214187-48214237	BJ	skin:	n/a
3	chr12:48213725-48213775	SK-N-SH_RA	brain:	n/a
4	chr12:48214187-48214237	BJ	skin:	n/a
5	chr12:48214108-48214158	MCF10A-Er-Src	breast:	n/a
6	chr12:48214523-48214573	MCF10A-Er-Src	breast:	n/a
7	chr12:48213813-48213863	GM06990	blood:	n/a
8	chr12:48213040-48213090	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:48214108-48214158	AoSMC	blood vessel:	n/a
10	chr12:48213725-48213775	HCT-116	colon:	n/a
11	chr12:48214523-48214573	BJ	skin:	n/a
12	chr12:48213040-48213090	H1-hESC	embryonic stem cell:	embryo
13	chr12:48214187-48214237	SAEC	small airway:	n/a
14	chr12:48214187-48214237	HIPEpiC	eye:	n/a
15	chr12:48214187-48214237	AG09319	gingival:	n/a
16	chr12:48213605-48213655	GM12891	blood:	n/a
17	chr12:48214108-48214158	HAEpiC	amniotic membrane:	n/a
18	chr12:48213040-48213090	Jurkat	blood:	n/a
19	chr12:48214108-48214158	NT2-D1	testis:	n/a
20	chr12:48213725-48213775	HEK293	kidney:	embryo
21	chr12:48214187-48214237	HNPCEpiC	eye:	n/a
22	chr12:48214187-48214237	PFSK-1	brain:	n/a
23	chr12:48213040-48213090	NHDF-neo	bronchial:	n/a
24	chr12:48213110-48213160	ECC-1	luminal epithelium:	n/a
25	chr12:48214523-48214573	HL-60	blood:	n/a
26	chr12:48214108-48214158	GM19239	blood:	n/a
27	chr12:48214108-48214158	LNCaP	prostate:	n/a
28	chr12:48213110-48213160	AG09309	skin:	n/a
29	chr12:48213605-48213655	AG04450	lung:	fetal
30	chr12:48213040-48213090	ovcar-3	ovarian:	n/a
31	chr12:48213725-48213775	SAEC	small airway:	n/a
32	chr12:48214108-48214158	BE2_C	brain:	n/a
33	chr12:48213605-48213655	ECC-1	luminal epithelium:	n/a
34	chr12:48214523-48214573	Jurkat	blood:	n/a
35	chr12:48213110-48213160	Hepatocyte	liver:	n/a
36	chr12:48213040-48213090	HL-60	blood:	n/a
37	chr12:48214523-48214573	ovcar-3	ovarian:	n/a
38	chr12:48213813-48213863	RPTEC	kidney:	n/a
39	chr12:48213725-48213775	AG09319	gingival:	n/a
40	chr12:48213605-48213655	HRE	kidney:	n/a
41	chr12:48214523-48214573	AG04450	lung:	fetal
42	chr12:48213725-48213775	PrEC	prostate:	n/a
43	chr12:48213110-48213160	A549	lung:	n/a
44	chr12:48213605-48213655	HL-60	blood:	n/a
45	chr12:48214523-48214573	Hela-S3	cervix:	n/a
46	chr12:48214187-48214237	Jurkat	blood:	n/a
47	chr12:48213605-48213655	HCPEpiC	choroid plexus:	n/a
48	chr12:48214523-48214573	HAEpiC	amniotic membrane:	n/a
49	chr12:48213813-48213863	HRPEpiC	eye:	n/a
50	chr12:48213040-48213090	GM12878	blood:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:48165387..48167380-chr12:48211794..48213722,3	MCF-7	breast:
2	chr12:48165941..48169073-chr12:48212869..48214658,5	MCF-7	breast:
3	chr12:48213261..48213880-chr6:33256853..33257420,2	Hela-S3	cervix:
4	chr12:48186144..48189155-chr12:48210267..48212702,3	MCF-7	breast:
5	chr12:48214570..48215265-chrX:73834061..73834603,2	Hela-S3	cervix:
6	chr12:48213645..48214318-chr15:91497979..91498519,2	Hela-S3	cervix:
7	chr10:104154767..104155540-chr12:48213534..48214363,2	Hela-S3	cervix:
8	chr12:48214051..48215050-chr16:88729320..88730007,2	Hela-S3	cervix:
9	chr12:48185713..48187235-chr12:48211636..48214598,2	K562	blood:
10	chr12:48166096..48168794-chr12:48212793..48215345,4	K562	blood:
11	chr12:48100260..48102598-chr12:48215002..48217225,2	K562	blood:
12	chr12:48180097..48182896-chr12:48212671..48214919,5	MCF-7	breast:
13	chr12:48212890..48213816-chr17:5094659..5095485,2	Hela-S3	cervix:
14	chr12:6643615..6644394-chr12:48214539..48215281,2	Hela-S3	cervix:
15	chr12:48214165..48215059-chr3:14219720..14220575,2	Hela-S3	cervix:
16	chr12:48213554..48216263-chr17:57923656..57925341,2	MCF-7	breast:
17	chr12:48214094..48214594-chr12:90102471..90102972,2	Hela-S3	cervix:
18	chr1:110880426..110881383-chr12:48213458..48214119,2	Hela-S3	cervix:
19	chr12:46662257..46664463-chr12:48212247..48214266,2	MCF-7	breast:
20	chr12:48135112..48136657-chr12:48212167..48214385,2	K562	blood:
21	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
22	chr1:145382599..145383425-chr12:48213442..48214824,3	Hela-S3	cervix:
23	chr12:48213487..48214096-chr12:51441793..51442565,2	Hela-S3	cervix:
24	chr12:48213628..48214497-chr12:48222488..48223365,3	Hela-S3	cervix:
25	chr12:48214779..48215373-chr12:48231061..48231841,2	MCF-7	breast:
26	chr12:48214553..48215217-chr4:71704540..71705239,2	Hela-S3	cervix:
27	chr12:48181077..48183243-chr12:48212679..48214821,2	K562	blood:
28	chr12:48098678..48101690-chr12:48212441..48216325,5	MCF-7	breast:
29	chr11:61582882..61583588-chr12:48213238..48213807,2	Hela-S3	cervix:
30	chr12:48213161..48214075-chr19:17516053..17516566,2	Hela-S3	cervix:
31	chr12:48214604..48217518-chr12:48297846..48300533,2	MCF-7	breast:
32	chr12:48141723..48143940-chr12:48213579..48216155,2	MCF-7	breast:
33	chr12:48213150..48213906-chr3:150125788..150126772,2	Hela-S3	cervix:
34	chr12:48214340..48214979-chr12:115121754..115122514,2	Hela-S3	cervix:
35	chr12:48213696..48214315-chr6:160148175..160149055,2	Hela-S3	cervix:
36	chr12:48213022..48213958-chr5:34007842..34008625,2	Hela-S3	cervix:
37	chr12:48213886..48214566-chr14:53173485..53174188,2	Hela-S3	cervix:
38	chr12:48118580..48122371-chr12:48212442..48215354,3	MCF-7	breast:
39	chr12:48214550..48215216-chr12:48232260..48232928,2	K562	blood:
40	chr12:48212892..48213761-chr5:148205735..148206239,2	NB4	blood:
41	chr12:48144391..48147829-chr12:48212557..48216683,4	MCF-7	breast:
42	chr12:48171729..48173429-chr12:48213188..48215174,2	K562	blood:
43	chr12:48212981..48215317-chr3:161089373..161090906,2	MCF-7	breast:
44	chr12:48213573..48214228-chr7:56119167..56120010,2	Hela-S3	cervix:
45	chr12:48166096..48168794-chr12:48212793..48215345,3	K562	blood:
46	chr1:53662219..53662719-chr12:48213339..48213840,2	NB4	blood:
47	chr12:48184371..48186432-chr12:48213381..48215555,2	MCF-7	breast:
48	chr12:48213520..48214107-chr15:50978876..50979508,2	Hela-S3	cervix:
49	chr12:48213827..48214395-chr6:27114575..27115465,2	Hela-S3	cervix:
50	chr12:48213711..48214326-chr3:170587750..170588493,2	Hela-S3	cervix:

No data

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

Extended variants
information (count: 85 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373947829	chr12:48212250-48212251	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs377553359	chr12:48212252-48212253	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs373936414	chr12:48212280-48212281	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570576155	chr12:48212307-48212308	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs78079190	chr12:48212382-48212383	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs556411200	chr12:48212413-48212414	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs146129913	chr12:48212466-48212467	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs572012377	chr12:48212515-48212516	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs55713656	chr12:48212532-48212533	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs180730186	chr12:48212583-48212584	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs572086387	chr12:48212594-48212595	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs539468752	chr12:48212601-48212602	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
13	rs368958404	chr12:48212603-48212604	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
14	rs541080498	chr12:48212659-48212660	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
15	rs557571798	chr12:48212670-48212671	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
16	rs527482960	chr12:48212700-48212701	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
17	rs73109811	chr12:48212719-48212720	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48208600-48212400	Weak transcription	Ovary	ovary
2	chr12:48209800-48212400	Enhancers	Fetal Heart	heart
3	chr12:48209800-48212600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
4	chr12:48210000-48212400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr12:48210000-48212600	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr12:48210000-48212600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr12:48210000-48212600	Transcr. at gene 5' and 3'	Thymus	Thymus
8	chr12:48210000-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:48210200-48212400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr12:48210200-48212400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48210200-48212400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:48210200-48212400	Enhancers	Fetal Lung	lung
13	chr12:48210200-48212600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:48210200-48212600	Transcr. at gene 5' and 3'	Hela-S3	cervix
15	chr12:48210200-48213000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:48210200-48213200	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr12:48210400-48212400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:48210400-48212600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:48210600-48212400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:48210600-48212400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:48210600-48212400	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr12:48210600-48212400	Enhancers	Gastric	stomach
23	chr12:48210600-48212400	Flanking Active TSS	HSMM	muscle
24	chr12:48210600-48212600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:48210600-48212600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr12:48210600-48212600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:48210600-48212600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr12:48210600-48212600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:48210600-48212600	Flanking Active TSS	Left Ventricle	heart
30	chr12:48210600-48212800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:48210600-48212800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48210600-48212800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr12:48210600-48212800	Flanking Active TSS	NH-A	brain
34	chr12:48210600-48213000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr12:48210600-48213000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr12:48210600-48213000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr12:48210600-48213000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:48210600-48213000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr12:48210600-48213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr12:48210600-48213000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:48210600-48213200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:48210600-48213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr12:48210600-48213400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:48210800-48212400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48210800-48212400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
46	chr12:48210800-48212600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:48210800-48212600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:48210800-48212800	Enhancers	Stomach Mucosa	stomach
49	chr12:48210800-48212800	Flanking Active TSS	Osteobl	bone
50	chr12:48210800-48213000	Flanking Active TSS	HMEC	breast

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