Variant report

Variant	esv1840310
Chromosome Location	chr12:31743194-31750986
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	chr12:31744661-31744691	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31743401-31743530	K562	blood:	n/a	n/a
3	ARID3A	chr12:31742573-31743252	HepG2	liver:	n/a	n/a
4	ATF1	chr12:31743345-31743636	K562	blood:	n/a	n/a
5	ATF1	chr12:31744447-31744647	K562	blood:	n/a	n/a
6	ATF2	chr12:31744189-31744801	GM12878	blood:	n/a	n/a
7	ATF3	chr12:31743094-31743329	K562	blood:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
8	ATF3	chr12:31743094-31743344	HepG2	liver:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
9	ATF3	chr12:31743379-31743631	K562	blood:	n/a	chr12:31743593-31743602
10	BACH1	chr12:31743002-31743307	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr12:31744072-31744796	A549	lung:	n/a	chr12:31744265-31744278
12	BCLAF1	chr12:31742479-31743737	GM12878	blood:	n/a	chr12:31743162-31743175 chr12:31743617-31743630 chr12:31743242-31743255 chr12:31743078-31743091 chr12:31742784-31742797 chr12:31743616-31743625
13	BCLAF1	chr12:31744256-31744877	GM12878	blood:	n/a	chr12:31744265-31744278
14	BHLHE40	chr12:31742555-31744782	HepG2	liver:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229 chr12:31744029-31744045
15	BHLHE40	chr12:31743014-31743621	A549	lung:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
16	BHLHE40	chr12:31742707-31743593	GM12878	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
17	BHLHE40	chr12:31744028-31744155	K562	blood:	n/a	chr12:31744029-31744045
18	BHLHE40	chr12:31743956-31744258	GM12878	blood:	n/a	chr12:31744029-31744045
19	BHLHE40	chr12:31742679-31743687	K562	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
20	BRCA1	chr12:31742584-31743212	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:31744321-31744442	HepG2	liver:	n/a	n/a
22	BRCA1	chr12:31743911-31744094	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:31743983-31744080	GM12878	blood:	n/a	n/a
24	CCNT2	chr12:31742878-31744401	K562	blood:	n/a	chr12:31744156-31744165
25	CEBPB	chr12:31747050-31747323	HepG2	liver:	n/a	chr12:31747167-31747180 chr12:31747168-31747179
26	CEBPB	chr12:31747076-31747316	K562	blood:	n/a	chr12:31747167-31747180 chr12:31747168-31747179
27	CEBPB	chr12:31743920-31743953	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr12:31742711-31743255	HepG2	liver:	n/a	n/a
29	CEBPD	chr12:31743823-31744195	HepG2	liver:	n/a	n/a
30	CHD1	chr12:31743874-31743925	GM12878	blood:	n/a	n/a
31	CHD1	chr12:31743199-31743215	GM12878	blood:	n/a	n/a
32	CHD1	chr12:31742929-31743758	H1-hESC	embryonic stem cell:	n/a	chr12:31743165-31743175
33	CHD2	chr12:31743849-31744542	HepG2	liver:	n/a	n/a
34	CHD2	chr12:31742588-31744661	Hela-S3	cervix:	n/a	chr12:31743165-31743175
35	CHD2	chr12:31743873-31744683	K562	blood:	n/a	n/a
36	CHD2	chr12:31742748-31743543	HepG2	liver:	n/a	chr12:31743165-31743175
37	CHD2	chr12:31743820-31744189	GM12878	blood:	n/a	n/a
38	CHD2	chr12:31748751-31748787	K562	blood:	n/a	n/a
39	CREB1	chr12:31742487-31743280	HepG2	liver:	n/a	n/a
40	CREB1	chr12:31742538-31744807	HepG2	liver:	n/a	n/a
41	CREB1	chr12:31742576-31743752	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr12:31743784-31744935	GM12878	blood:	n/a	n/a
43	CREB1	chr12:31742467-31743757	GM12878	blood:	n/a	n/a
44	CREB1	chr12:31743274-31743810	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr12:31742669-31744279	A549	lung:	n/a	n/a
46	CTCF	chr12:31743380-31743530	GM12874	blood:	n/a	n/a
47	CTCF	chr12:31743480-31743630	GM12878	blood:	n/a	n/a
48	CTCF	chr12:31743500-31743650	HCM	heart:	n/a	n/a
49	CTCF	chr12:31743420-31743570	A549	lung:	n/a	n/a
50	CTCF	chr12:31743577-31743580	GM20000	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31743882-31743932	RPTEC	kidney:	n/a
2	chr12:31744436-31744486	HCPEpiC	choroid plexus:	n/a
3	chr12:31748122-31748172	NHBE	bronchial:	n/a
4	chr12:31748122-31748172	SK-N-SH_RA	brain:	n/a
5	chr12:31744129-31744179	HMEC	breast:	n/a
6	chr12:31744436-31744486	HMEC	breast:	n/a
7	chr12:31743367-31743417	HMEC	breast:	n/a
8	chr12:31744129-31744179	HCT-116	colon:	n/a
9	chr12:31743857-31743907	GM06990	blood:	n/a
10	chr12:31744310-31744360	AG04450	lung:	fetal
11	chr12:31743367-31743417	A549	lung:	n/a
12	chr12:31744129-31744179	ovcar-3	ovarian:	n/a
13	chr12:31744436-31744486	RPTEC	kidney:	n/a
14	chr12:31748122-31748172	AG10803	skin:	n/a
15	chr12:31744436-31744486	AoSMC	blood vessel:	n/a
16	chr12:31743857-31743907	CMK	blood:	n/a
17	chr12:31744129-31744179	GM19239	blood:	n/a
18	chr12:31743857-31743907	SK-N-SH	brain:	n/a
19	chr12:31744310-31744360	PANC-1	pancreas:	n/a
20	chr12:31744695-31744745	HCM	heart:	n/a
21	chr12:31743857-31743907	NHBE	bronchial:	n/a
22	chr12:31743449-31743499	HRE	kidney:	n/a
23	chr12:31743367-31743417	Hepatocyte	liver:	n/a
24	chr12:31744436-31744486	PrEC	prostate:	n/a
25	chr12:31744129-31744179	HL-60	blood:	n/a
26	chr12:31748122-31748172	A549	lung:	n/a
27	chr12:31744436-31744486	IMR90	lung:	fetal
28	chr12:31744129-31744179	Hepatocyte	liver:	n/a
29	chr12:31743367-31743417	IMR90	lung:	fetal
30	chr12:31744043-31744093	HCF	heart:	n/a
31	chr12:31743449-31743499	HCT-116	colon:	n/a
32	chr12:31748122-31748172	K562	blood:	n/a
33	chr12:31743367-31743417	HRCEpiC	kidney:	n/a
34	chr12:31743882-31743932	AG10803	skin:	n/a
35	chr12:31743857-31743907	HL-60	blood:	n/a
36	chr12:31744043-31744093	NHDF-neo	bronchial:	n/a
37	chr12:31743857-31743907	Jurkat	blood:	n/a
38	chr12:31743449-31743499	ProgFib	skin:	n/a
39	chr12:31743367-31743417	HCPEpiC	choroid plexus:	n/a
40	chr12:31744436-31744486	Hepatocyte	liver:	n/a
41	chr12:31743882-31743932	PFSK-1	brain:	n/a
42	chr12:31743857-31743907	NHDF-neo	bronchial:	n/a
43	chr12:31744129-31744179	AG10803	skin:	n/a
44	chr12:31748122-31748172	Caco-2	colon:	n/a
45	chr12:31744695-31744745	SK-N-SH_RA	brain:	n/a
46	chr12:31744129-31744179	LNCaP	prostate:	n/a
47	chr12:31743449-31743499	Hepatocyte	liver:	n/a
48	chr12:31743367-31743417	AG10803	skin:	n/a
49	chr12:31744436-31744486	SKMC	muscle:	n/a
50	chr12:31743882-31743932	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:31645308..31649621-chr12:31742506..31745309,6	MCF-7	breast:
2	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
3	chr1:11969320..11970309-chr12:31746577..31747604,7	Hela-S3	cervix:
4	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
5	chr12:31745091..31747743-chr12:31750901..31752442,2	K562	blood:
6	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:
7	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
8	chr12:31743215..31744081-chr19:1875675..1876438,2	Hela-S3	cervix:
9	chr12:31739424..31741927-chr12:31747863..31749994,2	K562	blood:
10	chr12:31477521..31479099-chr12:31743621..31745412,2	K562	blood:
11	chr12:31743328..31745615-chr12:31747440..31749216,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-7	chr12:31750885-31751290	NONHSAT027562
2	lnc-DENND5B-2	chr12:31750048-31750343	NONHSAT027561
3	lnc-METTL20-1	chr12:31744246-31744674	ENSG00000255867.1

Variant related genes	Relation type
DENND5B-AS1	TF binding region
RNU5F-4P	TF binding region
RPL31P50	TF binding region
DENND5B	TF binding region
DENND5B-AS1	CpG island
RNU5F-4P	CpG island
RPL31P50	CpG island
DENND5B	CpG island
ENSG00000255867	chromatin interactions
ENSG00000231788	chromatin interactions
ENSG00000170456	chromatin interactions
ENSG00000261526	chromatin interactions
ENSG00000252390	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000139146	chromatin interactions

Extended variants
information (count: 318 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1259422	chr12:31743194-31743195	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571595223	chr12:31743210-31743211	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs375045171	chr12:31743260-31743261	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534065615	chr12:31743265-31743266	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs547828257	chr12:31743267-31743268	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs567525710	chr12:31743275-31743276	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs1269139	chr12:31743301-31743302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1259423	chr12:31743344-31743345	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12825651	chr12:31743365-31743366	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112357978	chr12:31743382-31743383	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs12825684	chr12:31743416-31743417	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs538895742	chr12:31743423-31743424	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs558701542	chr12:31743459-31743460	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs572436877	chr12:31743520-31743521	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs541291271	chr12:31743577-31743578	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs369687591	chr12:31743592-31743593	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs560114046	chr12:31743594-31743595	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs370134978	chr12:31743596-31743597	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs573509610	chr12:31743600-31743601	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs542715497	chr12:31743755-31743756	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs562484243	chr12:31743774-31743775	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs531413019	chr12:31743803-31743804	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs551636732	chr12:31743908-31743909	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs565039447	chr12:31743923-31743924	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs527606169	chr12:31743965-31743966	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547330530	chr12:31743969-31743970	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs567663004	chr12:31743990-31743991	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs536294217	chr12:31744047-31744048	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs550148221	chr12:31744072-31744073	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs569840651	chr12:31744112-31744113	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs58959031	chr12:31744276-31744277	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs73088584	chr12:31744293-31744294	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs193030626	chr12:31744295-31744296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs531618367	chr12:31744315-31744316	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs572275836	chr12:31744319-31744320	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs550462411	chr12:31744333-31744334	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs534988316	chr12:31744400-31744401	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs76875409	chr12:31744407-31744408	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs149452817	chr12:31744521-31744522	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs113671808	chr12:31744560-31744561	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs542304746	chr12:31744576-31744577	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs77861113	chr12:31744585-31744586	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs111838255	chr12:31744648-31744649	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs145948937	chr12:31744705-31744706	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs565078382	chr12:31744712-31744713	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs549862148	chr12:31744737-31744738	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs549075374	chr12:31744743-31744744	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs532887014	chr12:31744770-31744771	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547562356	chr12:31744835-31744836	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs547997660	chr12:31744864-31744865	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31741400-31745000	Active TSS	Ovary	ovary
2	chr12:31741600-31744200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:31741600-31744800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:31741600-31745000	Active TSS	Fetal Kidney	kidney
5	chr12:31741800-31743600	Active TSS	Right Atrium	heart
6	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
9	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
10	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
11	chr12:31742000-31744200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr12:31742000-31744200	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr12:31742000-31744400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:31742000-31744400	Active TSS	Fetal Intestine Small	intestine
15	chr12:31742000-31744400	Active TSS	HSMM	muscle
16	chr12:31742000-31744400	Active TSS	HSMMtube	muscle
17	chr12:31742000-31744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:31742000-31744600	Active TSS	Brain Anterior Caudate	brain
19	chr12:31742000-31744600	Active TSS	Brain Germinal Matrix	brain
20	chr12:31742000-31744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:31742000-31744600	Active TSS	Fetal Intestine Large	intestine
22	chr12:31742000-31744800	Active TSS	NHDF-Ad	bronchial
23	chr12:31742000-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:31742000-31745000	Active TSS	Right Ventricle	heart
25	chr12:31742200-31743200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:31742200-31743200	Active TSS	Fetal Heart	heart
27	chr12:31742200-31744200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:31742200-31744200	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:31742200-31744200	Active TSS	NHLF	lung
30	chr12:31742200-31744400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:31742200-31744400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:31742200-31744400	Active TSS	Brain Angular Gyrus	brain
33	chr12:31742200-31744400	Active TSS	Brain Hippocampus Middle	brain
34	chr12:31742200-31744400	Active TSS	Duodenum Mucosa	Duodenum
35	chr12:31742200-31744400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr12:31742200-31744400	Active TSS	HepG2	liver
37	chr12:31742200-31744600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr12:31742200-31744600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:31742200-31744800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr12:31742200-31744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:31742200-31744800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr12:31742200-31744800	Active TSS	NHEK	skin
43	chr12:31742200-31745000	Active TSS	Colon Smooth Muscle	Colon
44	chr12:31742200-31745000	Active TSS	Fetal Brain Female	brain
45	chr12:31742400-31744200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:31742400-31744200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:31742400-31744200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:31742400-31744200	Active TSS	Fetal Muscle Trunk	muscle
49	chr12:31742400-31744200	Active TSS	Placenta	Placenta
50	chr12:31742400-31744200	Active TSS	HMEC	breast

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