Variant report

Variant	nsv826388
Chromosome Location	chr12:58238659-58242397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:974)
CpG islands
(count:917)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:58240358-58241017	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:58240067-58240098	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:58239305-58239663	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:58239365-58239373	K562	blood:	n/a	n/a
5	ATF2	chr12:58239635-58240138	GM12878	blood:	n/a	n/a
6	ATF2	chr12:58240788-58241191	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:58238367-58238894	GM12878	blood:	n/a	n/a
8	ATF2	chr12:58240295-58240887	GM12878	blood:	n/a	n/a
9	ATF3	chr12:58238444-58238762	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr12:58238446-58238872	K562	blood:	n/a	n/a
11	ATF3	chr12:58238385-58238876	A549	lung:	n/a	n/a
12	BACH1	chr12:58238461-58240059	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr12:58240491-58240661	K562	blood:	n/a	n/a
14	BACH1	chr12:58240468-58240577	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr12:58240888-58241206	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr12:58239940-58240779	A549	lung:	n/a	chr12:58240696-58240709 chr12:58240578-58240591 chr12:58240106-58240115 chr12:58240305-58240318
17	BCL3	chr12:58238219-58238848	A549	lung:	n/a	n/a
18	BCLAF1	chr12:58240259-58240754	GM12878	blood:	n/a	chr12:58240696-58240709 chr12:58240578-58240591 chr12:58240305-58240318
19	BHLHE40	chr12:58240376-58241248	K562	blood:	n/a	chr12:58240448-58240464
20	BHLHE40	chr12:58242211-58242263	K562	blood:	n/a	n/a
21	BHLHE40	chr12:58239209-58241199	GM12878	blood:	n/a	chr12:58239416-58239432 chr12:58240448-58240464 chr12:58239788-58239804 chr12:58239277-58239293
22	BHLHE40	chr12:58240628-58241161	A549	lung:	n/a	n/a
23	BHLHE40	chr12:58239215-58241214	HepG2	liver:	n/a	chr12:58239416-58239432 chr12:58240448-58240464 chr12:58239788-58239804 chr12:58239277-58239293
24	BHLHE40	chr12:58239262-58240176	K562	blood:	n/a	chr12:58239416-58239432 chr12:58239788-58239804 chr12:58239277-58239293
25	BHLHE40	chr12:58240870-58241142	HepG2	liver:	n/a	n/a
26	BHLHE40	chr12:58238493-58238857	K562	blood:	n/a	n/a
27	BRCA1	chr12:58240448-58240523	HepG2	liver:	n/a	n/a
28	BRCA1	chr12:58239965-58240385	GM12878	blood:	n/a	n/a
29	BRCA1	chr12:58238531-58238911	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr12:58240816-58241011	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr12:58240625-58240701	GM12878	blood:	n/a	n/a
32	CBX3	chr12:58240728-58241151	K562	blood:	n/a	chr12:58240970-58240981
33	CBX3	chr12:58238394-58238978	K562	blood:	n/a	n/a
34	CBX3	chr12:58240328-58240713	K562	blood:	n/a	n/a
35	CBX3	chr12:58239346-58239988	K562	blood:	n/a	n/a
36	CCNT2	chr12:58238859-58241078	K562	blood:	n/a	chr12:58239594-58239603 chr12:58240758-58240767 chr12:58239823-58239832 chr12:58239902-58239911 chr12:58240547-58240556
37	CEBPB	chr12:58239224-58239448	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:58239216-58239504	A549	lung:	n/a	n/a
39	CEBPB	chr12:58238387-58238848	K562	blood:	n/a	chr12:58238652-58238663
40	CEBPB	chr12:58238421-58239009	ECC-1	luminal epithelium:	n/a	chr12:58238652-58238663
41	CEBPB	chr12:58238374-58238857	ECC-1	luminal epithelium:	n/a	chr12:58238652-58238663
42	CEBPB	chr12:58240848-58241068	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr12:58239129-58239838	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:58239085-58239619	MCF-7	breast:	n/a	n/a
45	CEBPB	chr12:58239190-58239548	HepG2	liver:	n/a	n/a
46	CEBPB	chr12:58239207-58239445	IMR90	lung:	n/a	n/a
47	CEBPB	chr12:58238463-58238846	HepG2	liver:	n/a	chr12:58238652-58238663
48	CEBPB	chr12:58238426-58238826	A549	lung:	n/a	chr12:58238652-58238663
49	CEBPB	chr12:58238457-58238933	H1-hESC	embryonic stem cell:	n/a	chr12:58238652-58238663
50	CEBPB	chr12:58238290-58238819	HepG2	liver:	n/a	chr12:58238652-58238663

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58239324-58239374	HCF	heart:	n/a
2	chr12:58240809-58240859	HCM	heart:	n/a
3	chr12:58239324-58239374	HCF	heart:	n/a
4	chr12:58240809-58240859	HCM	heart:	n/a
5	chr12:58240442-58240492	NHBE	bronchial:	n/a
6	chr12:58239492-58239542	AG09319	gingival:	n/a
7	chr12:58240896-58240946	AG09319	gingival:	n/a
8	chr12:58240843-58240893	ProgFib	skin:	n/a
9	chr12:58240176-58240226	A549	lung:	n/a
10	chr12:58239512-58239562	PrEC	prostate:	n/a
11	chr12:58239512-58239562	HRPEpiC	eye:	n/a
12	chr12:58240843-58240893	NHDF-neo	bronchial:	n/a
13	chr12:58240896-58240946	PFSK-1	brain:	n/a
14	chr12:58239134-58239184	HIPEpiC	eye:	n/a
15	chr12:58241215-58241265	NB4	blood:	n/a
16	chr12:58240176-58240226	SKMC	muscle:	n/a
17	chr12:58240843-58240893	HIPEpiC	eye:	n/a
18	chr12:58240896-58240946	LNCaP	prostate:	n/a
19	chr12:58240896-58240946	AoSMC	blood vessel:	n/a
20	chr12:58239952-58240002	BJ	skin:	n/a
21	chr12:58239512-58239562	K562	blood:	n/a
22	chr12:58240896-58240946	A549	lung:	n/a
23	chr12:58240817-58240867	MCF-7	breast:	n/a
24	chr12:58241200-58241250	AG04449	skin:	fetal
25	chr12:58241039-58241089	HCT-116	colon:	n/a
26	chr12:58240809-58240859	HL-60	blood:	n/a
27	chr12:58240176-58240226	HNPCEpiC	eye:	n/a
28	chr12:58240809-58240859	Hela-S3	cervix:	n/a
29	chr12:58240843-58240893	SK-N-MC	brain:	n/a
30	chr12:58239512-58239562	SK-N-SH_RA	brain:	n/a
31	chr12:58239134-58239184	A549	lung:	n/a
32	chr12:58240896-58240946	NH-A	brain:	n/a
33	chr12:58239492-58239542	GM12878	blood:	n/a
34	chr12:58240442-58240492	SKMC	muscle:	n/a
35	chr12:58239324-58239374	NB4	blood:	n/a
36	chr12:58239134-58239184	ProgFib	skin:	n/a
37	chr12:58240442-58240492	GM12878	blood:	n/a
38	chr12:58240896-58240946	Hepatocyte	liver:	n/a
39	chr12:58240817-58240867	MCF10A-Er-Src	breast:	n/a
40	chr12:58240809-58240859	ovcar-3	ovarian:	n/a
41	chr12:58239492-58239542	NB4	blood:	n/a
42	chr12:58241200-58241250	Caco-2	colon:	n/a
43	chr12:58239134-58239184	AG09319	gingival:	n/a
44	chr12:58240176-58240226	HepG2	liver:	n/a
45	chr12:58241215-58241265	NT2-D1	testis:	n/a
46	chr12:58240896-58240946	HCT-116	colon:	n/a
47	chr12:58240442-58240492	Hepatocyte	liver:	n/a
48	chr12:58240843-58240893	HEK293	kidney:	embryo
49	chr12:58241039-58241089	HRE	kidney:	n/a
50	chr12:58241200-58241250	AG09319	gingival:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58175629..58177696-chr12:58241089..58243038,2	MCF-7	breast:
2	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
3	chr12:58238634..58240343-chr12:58334223..58336659,2	MCF-7	breast:
4	chr12:58156406..58160029-chr12:58238044..58241191,3	MCF-7	breast:
5	chr12:58164678..58167264-chr12:58237471..58241552,5	MCF-7	breast:
6	chr12:58175489..58177867-chr12:58239241..58240765,2	MCF-7	breast:
7	chr12:58239271..58242314-chr12:58333147..58337015,4	K562	blood:
8	chr12:58212086..58214984-chr12:58238632..58241452,2	K562	blood:
9	chr12:58242304..58245616-chr12:58249700..58252095,4	MCF-7	breast:
10	chr12:58238851..58241260-chr12:58332365..58335429,3	K562	blood:
11	chr12:58240989..58243602-chr12:58264748..58266255,2	MCF-7	breast:
12	chr12:58233944..58243826-chr12:58273095..58290464,46	MCF-7	breast:
13	chr12:58219013..58221062-chr12:58238426..58242369,4	K562	blood:
14	chr12:58165655..58167905-chr12:58237563..58240125,2	K562	blood:
15	chr12:58175049..58178042-chr12:58240093..58242141,3	K562	blood:
16	chr12:58240648..58242325-chr12:58268163..58269824,2	MCF-7	breast:
17	chr12:58164479..58167905-chr12:58237563..58242209,7	K562	blood:
18	chr12:58163238..58167741-chr12:58238267..58242135,5	MCF-7	breast:
19	chr12:58176542..58178155-chr12:58239377..58241593,2	K562	blood:
20	chr12:56509109..56511870-chr12:58238772..58240512,2	MCF-7	breast:
21	chr12:58240080..58240744-chr3:33138447..33138977,2	NB4	blood:
22	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
23	chr12:58236777..58241883-chr12:58327592..58331955,7	K562	blood:
24	chr12:58236689..58239049-chr12:58299056..58300765,2	K562	blood:
25	chr12:58216404..58218669-chr12:58237617..58240211,2	MCF-7	breast:
26	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
27	chr12:58133058..58135797-chr12:58239105..58241667,3	MCF-7	breast:
28	chr12:58240625..58241157-chr5:55007828..55008469,2	HCT-116	colon:
29	chr12:58238134..58241883-chr12:58327269..58331955,5	K562	blood:
30	chr12:58162243..58164732-chr12:58237977..58240961,2	K562	blood:
31	chr12:58208382..58211794-chr12:58238834..58242089,3	K562	blood:
32	chr12:58135922..58138105-chr12:58238206..58241573,3	MCF-7	breast:
33	chr12:58238802..58241111-chr12:58289482..58291156,2	K562	blood:
34	chr12:31477188..31479124-chr12:58238397..58240521,2	MCF-7	breast:
35	chr12:58219695..58221744-chr12:58239321..58241689,2	MCF-7	breast:
36	chr12:57997608..58000545-chr12:58238111..58240464,2	MCF-7	breast:
37	chr12:58237402..58238978-chr12:58333823..58335875,2	K562	blood:

No data

Variant related genes	Relation type
CTDSP2	TF binding region
CTDSP2	CpG island
ENSG00000207789	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000135439	chromatin interactions
ENSG00000177058	chromatin interactions
ENSG00000135452	chromatin interactions
ENSG00000257921	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000166896	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000111012	chromatin interactions
ENSG00000123297	chromatin interactions
ENSG00000257698	chromatin interactions
ENSG00000245651	chromatin interactions
ENSG00000135407	chromatin interactions
ENSG00000139146	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000177340	chromatin interactions
ENSG00000037897	chromatin interactions
ENSG00000175215	chromatin interactions
ENSG00000170266	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553139054	chr12:58238694-58238695	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs574510530	chr12:58238738-58238739	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs536772839	chr12:58238815-58238816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs568533104	chr12:58238825-58238826	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs554743280	chr12:58238833-58238834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs576061058	chr12:58238847-58238848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs543401541	chr12:58238850-58238851	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs570046275	chr12:58238902-58238903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs577130168	chr12:58238929-58238930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs541329678	chr12:58238941-58238942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs149286879	chr12:58238986-58238987	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs559920682	chr12:58239000-58239001	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs530213959	chr12:58239069-58239070	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs377394737	chr12:58239074-58239075	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs548302337	chr12:58239076-58239077	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs563365974	chr12:58239092-58239093	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs537414061	chr12:58239115-58239116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs143726716	chr12:58239122-58239123	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs552203445	chr12:58239124-58239125	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs570418621	chr12:58239137-58239138	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs534930555	chr12:58239155-58239156	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs546548885	chr12:58239192-58239193	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs375714626	chr12:58239280-58239281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs568274632	chr12:58239327-58239328	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs79256481	chr12:58239407-58239408	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs369111694	chr12:58239421-58239422	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs78449756	chr12:58239476-58239477	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs577141616	chr12:58239513-58239514	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs4760335	chr12:58239548-58239549	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs559783968	chr12:58239641-58239642	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs188107230	chr12:58239706-58239707	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs542056963	chr12:58239747-58239748	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs11611841	chr12:58239765-58239766	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs563824344	chr12:58239829-58239830	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs530630828	chr12:58239842-58239843	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs552264754	chr12:58239846-58239847	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs564090739	chr12:58239926-58239927	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs528053446	chr12:58239989-58239990	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs546907916	chr12:58240022-58240023	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs375610893	chr12:58240027-58240028	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs568254716	chr12:58240035-58240036	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs535685930	chr12:58240089-58240090	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs550372333	chr12:58240117-58240118	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs112505351	chr12:58240177-58240178	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs112054763	chr12:58240199-58240200	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs368703478	chr12:58240207-58240208	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs74554628	chr12:58240210-58240211	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs568677682	chr12:58240243-58240244	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs537169993	chr12:58240259-58240260	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs558608060	chr12:58240286-58240287	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	21293372	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	chr12:58235200-58239000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr12:58235800-58238800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:58236200-58238800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:58236200-58238800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:58236200-58239000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
6	chr12:58236200-58239400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:58236200-58239400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:58236400-58239200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:58236600-58239200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:58237000-58239000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:58237000-58241000	Active TSS	Aorta	Aorta
12	chr12:58237200-58241200	Active TSS	Ovary	ovary
13	chr12:58237400-58239000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:58237400-58239400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:58237400-58241200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:58237600-58238800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:58237600-58239200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:58237600-58241000	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:58237600-58241400	Active TSS	Brain Substantia Nigra	brain
20	chr12:58237600-58241400	Active TSS	Fetal Kidney	kidney
21	chr12:58237800-58241000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:58237800-58241200	Active TSS	Colon Smooth Muscle	Colon
23	chr12:58238000-58238800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:58238000-58238800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:58238000-58238800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr12:58238000-58238800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:58238000-58238800	Flanking Active TSS	A549	lung
28	chr12:58238000-58238800	Flanking Active TSS	GM12878-XiMat	blood
29	chr12:58238000-58238800	Flanking Active TSS	NHEK	skin
30	chr12:58238000-58239000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:58238000-58239400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:58238000-58239600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:58238000-58240200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:58238000-58241000	Active TSS	Brain Anterior Caudate	brain
35	chr12:58238000-58241000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:58238000-58241000	Active TSS	HSMMtube	muscle
37	chr12:58238000-58241200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:58238200-58239000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr12:58238200-58239000	Flanking Active TSS	HUVEC	blood vessel
40	chr12:58238200-58239000	Flanking Active TSS	K562	blood
41	chr12:58238200-58239200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:58238200-58239200	Flanking Active TSS	Dnd41	blood
43	chr12:58238200-58241000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:58238400-58240400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:58238400-58240800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:58238400-58240800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:58238400-58240800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:58238400-58240800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:58238400-58240800	Active TSS	Small Intestine	intestine
50	chr12:58238400-58241000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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