Variant report

Variant	esv3375615
Chromosome Location	chr12:31742710-31745258
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	chr12:31744447-31744647	K562	blood:	n/a	n/a
5	ATF1	chr12:31743345-31743636	K562	blood:	n/a	n/a
6	ATF1	chr12:31742666-31742971	K562	blood:	n/a	n/a
7	ATF2	chr12:31744189-31744801	GM12878	blood:	n/a	n/a
8	ATF2	chr12:31742352-31742873	GM12878	blood:	n/a	n/a
9	ATF3	chr12:31743094-31743344	HepG2	liver:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
10	ATF3	chr12:31743379-31743631	K562	blood:	n/a	chr12:31743593-31743602
11	ATF3	chr12:31743094-31743329	K562	blood:	n/a	chr12:31743300-31743309 chr12:31743111-31743120
12	BACH1	chr12:31743002-31743307	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL3	chr12:31744072-31744796	A549	lung:	n/a	chr12:31744265-31744278
14	BCLAF1	chr12:31744256-31744877	GM12878	blood:	n/a	chr12:31744265-31744278
15	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
16	BHLHE40	chr12:31742679-31743687	K562	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
17	BHLHE40	chr12:31742707-31743593	GM12878	blood:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
18	BHLHE40	chr12:31743014-31743621	A549	lung:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229
19	BHLHE40	chr12:31744028-31744155	K562	blood:	n/a	chr12:31744029-31744045
20	BHLHE40	chr12:31742555-31744782	HepG2	liver:	n/a	chr12:31743218-31743231 chr12:31743220-31743229 chr12:31743219-31743228 chr12:31743220-31743229 chr12:31744029-31744045
21	BHLHE40	chr12:31743956-31744258	GM12878	blood:	n/a	chr12:31744029-31744045
22	BRCA1	chr12:31744321-31744442	HepG2	liver:	n/a	n/a
23	BRCA1	chr12:31743983-31744080	GM12878	blood:	n/a	n/a
24	BRCA1	chr12:31742584-31743212	HepG2	liver:	n/a	n/a
25	BRCA1	chr12:31742708-31743103	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:31743911-31744094	HepG2	liver:	n/a	n/a
27	CCNT2	chr12:31742878-31744401	K562	blood:	n/a	chr12:31744156-31744165
28	CEBPB	chr12:31743003-31743041	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:31743920-31743953	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr12:31742164-31743126	Hela-S3	cervix:	n/a	chr12:31742272-31742283
31	CEBPD	chr12:31743823-31744195	HepG2	liver:	n/a	n/a
32	CEBPD	chr12:31742711-31743255	HepG2	liver:	n/a	n/a
33	CHD1	chr12:31743874-31743925	GM12878	blood:	n/a	n/a
34	CHD1	chr12:31742929-31743758	H1-hESC	embryonic stem cell:	n/a	chr12:31743165-31743175
35	CHD1	chr12:31743199-31743215	GM12878	blood:	n/a	n/a
36	CHD2	chr12:31742588-31744661	Hela-S3	cervix:	n/a	chr12:31743165-31743175
37	CHD2	chr12:31742726-31742839	K562	blood:	n/a	n/a
38	CHD2	chr12:31743873-31744683	K562	blood:	n/a	n/a
39	CHD2	chr12:31743820-31744189	GM12878	blood:	n/a	n/a
40	CHD2	chr12:31742689-31743042	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr12:31742748-31743543	HepG2	liver:	n/a	chr12:31743165-31743175
42	CHD2	chr12:31743849-31744542	HepG2	liver:	n/a	n/a
43	CREB1	chr12:31742487-31743280	HepG2	liver:	n/a	n/a
44	CREB1	chr12:31742669-31744279	A549	lung:	n/a	n/a
45	CREB1	chr12:31742591-31743102	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr12:31742538-31744807	HepG2	liver:	n/a	n/a
47	CREB1	chr12:31742576-31743752	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr12:31743274-31743810	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr12:31742467-31743757	GM12878	blood:	n/a	n/a
50	CREB1	chr12:31743784-31744935	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31743449-31743499	U87	brain:	n/a
2	chr12:31743882-31743932	NT2-D1	testis:	n/a
3	chr12:31743449-31743499	U87	brain:	n/a
4	chr12:31743882-31743932	NT2-D1	testis:	n/a
5	chr12:31742801-31742851	BJ	skin:	n/a
6	chr12:31743367-31743417	NHDF-neo	bronchial:	n/a
7	chr12:31743449-31743499	HCPEpiC	choroid plexus:	n/a
8	chr12:31743367-31743417	HAEpiC	amniotic membrane:	n/a
9	chr12:31743857-31743907	A549	lung:	n/a
10	chr12:31744129-31744179	AG09319	gingival:	n/a
11	chr12:31743882-31743932	BE2_C	brain:	n/a
12	chr12:31742801-31742851	GM12891	blood:	n/a
13	chr12:31743882-31743932	Jurkat	blood:	n/a
14	chr12:31742979-31743029	BJ	skin:	n/a
15	chr12:31743449-31743499	HAEpiC	amniotic membrane:	n/a
16	chr12:31743367-31743417	U87	brain:	n/a
17	chr12:31744695-31744745	AG10803	skin:	n/a
18	chr12:31743449-31743499	SK-N-MC	brain:	n/a
19	chr12:31744310-31744360	NH-A	brain:	n/a
20	chr12:31744129-31744179	SK-N-SH_RA	brain:	n/a
21	chr12:31744310-31744360	HAEpiC	amniotic membrane:	n/a
22	chr12:31744310-31744360	HepG2	liver:	n/a
23	chr12:31743882-31743932	Hela-S3	cervix:	n/a
24	chr12:31744043-31744093	BE2_C	brain:	n/a
25	chr12:31743857-31743907	NT2-D1	testis:	n/a
26	chr12:31744695-31744745	LNCaP	prostate:	n/a
27	chr12:31744043-31744093	HMEC	breast:	n/a
28	chr12:31743857-31743907	Caco-2	colon:	n/a
29	chr12:31742801-31742851	IMR90	lung:	fetal
30	chr12:31743367-31743417	Hela-S3	cervix:	n/a
31	chr12:31742801-31742851	Hepatocyte	liver:	n/a
32	chr12:31744695-31744745	NT2-D1	testis:	n/a
33	chr12:31743857-31743907	PANC-1	pancreas:	n/a
34	chr12:31744436-31744486	NB4	blood:	n/a
35	chr12:31744043-31744093	H1-hESC	embryonic stem cell:	embryo
36	chr12:31742801-31742851	BE2_C	brain:	n/a
37	chr12:31743449-31743499	HMEC	breast:	n/a
38	chr12:31743367-31743417	HCM	heart:	n/a
39	chr12:31744310-31744360	SK-N-SH	brain:	n/a
40	chr12:31744310-31744360	BE2_C	brain:	n/a
41	chr12:31743882-31743932	SK-N-SH_RA	brain:	n/a
42	chr12:31742801-31742851	HAEpiC	amniotic membrane:	n/a
43	chr12:31744310-31744360	GM12892	blood:	n/a
44	chr12:31743367-31743417	SK-N-MC	brain:	n/a
45	chr12:31744043-31744093	PFSK-1	brain:	n/a
46	chr12:31744310-31744360	HEK293	kidney:	embryo
47	chr12:31743857-31743907	PFSK-1	brain:	n/a
48	chr12:31744043-31744093	GM12878	blood:	n/a
49	chr12:31744310-31744360	Jurkat	blood:	n/a
50	chr12:31743857-31743907	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr12:31477521..31479099-chr12:31743621..31745412,2	K562	blood:
2	chr12:31645308..31649621-chr12:31742506..31745309,6	MCF-7	breast:
3	chr12:31743215..31744081-chr19:1875675..1876438,2	Hela-S3	cervix:
4	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:
5	chr12:31477472..31480749-chr12:31741860..31744200,4	MCF-7	breast:
6	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-1	chr12:31744246-31744674	ENSG00000255867.1
2	lnc-METTL20-1	chr12:31742857-31743053	ENSG00000255867.1

Variant related genes	Relation type
DENND5B-AS1	TF binding region
DENND5B	TF binding region
DENND5B-AS1	CpG island
DENND5B	CpG island
ENSG00000139146	chromatin interactions
ENSG00000170456	chromatin interactions
ENSG00000231788	chromatin interactions
ENSG00000252390	chromatin interactions
ENSG00000261526	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555334463	chr12:31742716-31742717	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs187117203	chr12:31742735-31742736	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs565938538	chr12:31742769-31742770	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs141259287	chr12:31742795-31742796	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs372434216	chr12:31742801-31742802	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs527973044	chr12:31742838-31742839	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs539868390	chr12:31742883-31742884	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs191597813	chr12:31742915-31742916	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs150656458	chr12:31742919-31742920	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs528997398	chr12:31742948-31742949	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs562455949	chr12:31742969-31742970	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs183607711	chr12:31742970-31742971	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs149356460	chr12:31743024-31743025	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 CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs190672721	chr12:31743060-31743061	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	5 gene(s)	Overlapped CNVs	n/a
15	rs531492510	chr12:31743177-31743178	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)	Overlapped CNVs	n/a
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:369 , 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	chr12:31741800-31742800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:31741800-31742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:31741800-31743000	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:31741800-31743600	Active TSS	Right Atrium	heart
9	chr12:31741800-31744400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:31741800-31744400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:31741800-31744400	Active TSS	GM12878-XiMat	blood
12	chr12:31741800-31744800	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:31741800-31745000	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:31742000-31742800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:31742000-31742800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:31742000-31742800	Flanking Active TSS	NH-A	brain
17	chr12:31742000-31744200	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:31742000-31744200	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr12:31742000-31744400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:31742000-31744400	Active TSS	Fetal Intestine Small	intestine
21	chr12:31742000-31744400	Active TSS	HSMM	muscle
22	chr12:31742000-31744400	Active TSS	HSMMtube	muscle
23	chr12:31742000-31744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:31742000-31744600	Active TSS	Brain Anterior Caudate	brain
25	chr12:31742000-31744600	Active TSS	Brain Germinal Matrix	brain
26	chr12:31742000-31744600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:31742000-31744600	Active TSS	Fetal Intestine Large	intestine
28	chr12:31742000-31744800	Active TSS	NHDF-Ad	bronchial
29	chr12:31742000-31745000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:31742000-31745000	Active TSS	Right Ventricle	heart
31	chr12:31742200-31742800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:31742200-31742800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr12:31742200-31742800	Active TSS	Primary T cells from cord blood	blood
34	chr12:31742200-31742800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr12:31742200-31743200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:31742200-31743200	Active TSS	Fetal Heart	heart
37	chr12:31742200-31744200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:31742200-31744200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:31742200-31744200	Active TSS	NHLF	lung
40	chr12:31742200-31744400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:31742200-31744400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:31742200-31744400	Active TSS	Brain Angular Gyrus	brain
43	chr12:31742200-31744400	Active TSS	Brain Hippocampus Middle	brain
44	chr12:31742200-31744400	Active TSS	Duodenum Mucosa	Duodenum
45	chr12:31742200-31744400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr12:31742200-31744400	Active TSS	HepG2	liver
47	chr12:31742200-31744600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:31742200-31744600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:31742200-31744800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr12:31742200-31744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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