Variant report

Variant	esv3356835
Chromosome Location	chr12:50100110-50102658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:667)
CpG islands
(count:549)
Chromatin interactive
region (count:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:50101519-50101570	HepG2	liver:	n/a	n/a
2	ATF2	chr12:50100829-50101723	GM12878	blood:	n/a	n/a
3	ATF2	chr12:50099749-50100318	GM12878	blood:	n/a	n/a
4	ATF2	chr12:50101235-50101667	GM12878	blood:	n/a	n/a
5	ATF3	chr12:50101222-50101551	K562	blood:	n/a	n/a
6	BACH1	chr12:50100973-50101688	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr12:50101450-50101759	K562	blood:	n/a	n/a
8	BACH1	chr12:50100305-50100623	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr12:50100920-50101651	GM12878	blood:	n/a	chr12:50101459-50101467 chr12:50101322-50101331
10	BCLAF1	chr12:50100822-50101686	GM12878	blood:	n/a	chr12:50101459-50101467 chr12:50101322-50101331
11	BCLAF1	chr12:50099137-50100731	GM12878	blood:	n/a	chr12:50099841-50099850
12	BCLAF1	chr12:50100901-50101677	GM12878	blood:	n/a	chr12:50101459-50101467 chr12:50101322-50101331
13	BCLAF1	chr12:50098928-50100292	GM12878	blood:	n/a	chr12:50099841-50099850
14	BHLHE40	chr12:50100948-50101685	GM12878	blood:	n/a	chr12:50101115-50101131
15	BHLHE40	chr12:50101390-50101710	A549	lung:	n/a	n/a
16	BHLHE40	chr12:50100472-50100530	K562	blood:	n/a	n/a
17	BHLHE40	chr12:50101311-50101654	HepG2	liver:	n/a	n/a
18	BHLHE40	chr12:50101241-50101711	K562	blood:	n/a	n/a
19	BRCA1	chr12:50101403-50101674	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr12:50101375-50101565	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:50101311-50101700	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr12:50101151-50101750	K562	blood:	n/a	n/a
23	CBX3	chr12:50101094-50101867	HCT-116	colon:	n/a	n/a
24	CBX3	chr12:50101256-50101707	K562	blood:	n/a	n/a
25	CBX3	chr12:50101107-50102006	HCT-116	colon:	n/a	n/a
26	CCNT2	chr12:50100886-50101674	K562	blood:	n/a	n/a
27	CEBPB	chr12:50101419-50101644	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD1	chr12:50099004-50100438	GM12878	blood:	n/a	chr12:50100137-50100147
29	CHD2	chr12:50100460-50100529	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr12:50100791-50101704	Hela-S3	cervix:	n/a	chr12:50101383-50101393 chr12:50101414-50101424 chr12:50101463-50101473
31	CHD2	chr12:50101273-50101661	H1-hESC	embryonic stem cell:	n/a	chr12:50101383-50101393 chr12:50101414-50101424 chr12:50101463-50101473
32	CHD2	chr12:50100815-50101675	GM12878	blood:	n/a	chr12:50101383-50101393 chr12:50101414-50101424 chr12:50101463-50101473
33	CHD2	chr12:50101283-50101581	HepG2	liver:	n/a	chr12:50101383-50101393 chr12:50101414-50101424 chr12:50101463-50101473
34	CHD2	chr12:50101055-50101751	K562	blood:	n/a	chr12:50101383-50101393 chr12:50101414-50101424 chr12:50101463-50101473
35	CHD2	chr12:50099320-50100509	GM12878	blood:	n/a	chr12:50100137-50100147
36	CREB1	chr12:50101004-50101704	HepG2	liver:	n/a	n/a
37	CREB1	chr12:50101253-50101629	A549	lung:	n/a	n/a
38	CREB1	chr12:50100879-50101635	A549	lung:	n/a	n/a
39	CREB1	chr12:50101185-50101719	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr12:50100959-50101676	GM12878	blood:	n/a	n/a
41	CREB1	chr12:50101253-50101776	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr12:50101420-50101570	GM12866	blood:	n/a	chr12:50101498-50101516
43	CTCF	chr12:50101278-50101644	GM13976	blood:	n/a	chr12:50101498-50101516
44	CTCF	chr12:50101256-50101687	Spleen_OC	spleen:	n/a	chr12:50101498-50101516
45	CTCF	chr12:50101440-50101590	HEK293	kidney:	n/a	chr12:50101498-50101516
46	CTCF	chr12:50101440-50101590	HAc	cerebellar:	n/a	chr12:50101498-50101516
47	CTCF	chr12:50101153-50101659	GM12892	blood:	n/a	chr12:50101498-50101516
48	CTCF	chr12:50101740-50101890	GM12873	blood:	n/a	n/a
49	CTCF	chr12:50101460-50101610	AG09319	gingival:	n/a	chr12:50101498-50101516
50	CTCF	chr12:50101440-50101590	A549	lung:	n/a	chr12:50101498-50101516

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50100809-50100859	AG09319	gingival:	n/a
2	chr12:50101359-50101409	SK-N-MC	brain:	n/a
3	chr12:50101027-50101077	BJ	skin:	n/a
4	chr12:50101359-50101409	BJ	skin:	n/a
5	chr12:50102224-50102274	HAEpiC	amniotic membrane:	n/a
6	chr12:50101430-50101480	NT2-D1	testis:	n/a
7	chr12:50101564-50101614	K562	blood:	n/a
8	chr12:50101354-50101404	ECC-1	luminal epithelium:	n/a
9	chr12:50101354-50101404	K562	blood:	n/a
10	chr12:50101363-50101413	BE2_C	brain:	n/a
11	chr12:50101027-50101077	HRE	kidney:	n/a
12	chr12:50101356-50101406	A549	lung:	n/a
13	chr12:50101363-50101413	ProgFib	skin:	n/a
14	chr12:50101359-50101409	AG10803	skin:	n/a
15	chr12:50100809-50100859	HAEpiC	amniotic membrane:	n/a
16	chr12:50101356-50101406	K562	blood:	n/a
17	chr12:50101430-50101480	HEEpiC	esophagus:	n/a
18	chr12:50101027-50101077	NT2-D1	testis:	n/a
19	chr12:50101430-50101480	AG04450	lung:	fetal
20	chr12:50101363-50101413	CMK	blood:	n/a
21	chr12:50101363-50101413	HRCEpiC	kidney:	n/a
22	chr12:50101564-50101614	SK-N-MC	brain:	n/a
23	chr12:50101027-50101077	HCPEpiC	choroid plexus:	n/a
24	chr12:50101430-50101480	A549	lung:	n/a
25	chr12:50101027-50101077	U87	brain:	n/a
26	chr12:50101363-50101413	BJ	skin:	n/a
27	chr12:50101564-50101614	AoSMC	blood vessel:	n/a
28	chr12:50102224-50102274	HepG2	liver:	n/a
29	chr12:50101363-50101413	AG09319	gingival:	n/a
30	chr12:50101354-50101404	HEK293	kidney:	embryo
31	chr12:50101354-50101404	HRCEpiC	kidney:	n/a
32	chr12:50100809-50100859	BJ	skin:	n/a
33	chr12:50101354-50101404	ProgFib	skin:	n/a
34	chr12:50101564-50101614	AG09319	gingival:	n/a
35	chr12:50101564-50101614	AG09309	skin:	n/a
36	chr12:50101430-50101480	HCPEpiC	choroid plexus:	n/a
37	chr12:50102224-50102274	NHBE	bronchial:	n/a
38	chr12:50101354-50101404	HRE	kidney:	n/a
39	chr12:50101354-50101404	LNCaP	prostate:	n/a
40	chr12:50101363-50101413	HEEpiC	esophagus:	n/a
41	chr12:50101564-50101614	ovcar-3	ovarian:	n/a
42	chr12:50101354-50101404	HCF	heart:	n/a
43	chr12:50101356-50101406	GM06990	blood:	n/a
44	chr12:50101430-50101480	HCF	heart:	n/a
45	chr12:50101430-50101480	T-47D	breast:	n/a
46	chr12:50101356-50101406	BJ	skin:	n/a
47	chr12:50101356-50101406	HNPCEpiC	eye:	n/a
48	chr12:50100809-50100859	NHBE	bronchial:	n/a
49	chr12:50101359-50101409	HCT-116	colon:	n/a
50	chr12:50101354-50101404	HEEpiC	esophagus:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
2	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
3	chr12:50030609..50033291-chr12:50101156..50102921,3	K562	blood:
4	chr12:50030397..50032032-chr12:50101308..50102118,8	K562	blood:
5	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:
6	chr12:50035466..50036448-chr12:50101094..50101950,2	K562	blood:
7	chr12:50034899..50039875-chr12:50099580..50104040,10	MCF-7	breast:
8	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
9	chr12:50015348..50017930-chr12:50100590..50103903,3	K562	blood:
10	chr12:50030686..50032288-chr12:50100112..50102042,2	MCF-7	breast:
11	chr12:50033388..50039946-chr12:50098324..50104633,12	K562	blood:
12	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
13	chr12:50099890..50103139-chr12:50133844..50137712,5	MCF-7	breast:
14	chr12:50100220..50104044-chr12:50234202..50236972,3	K562	blood:
15	chr12:50080839..50082348-chr12:50098769..50100766,2	K562	blood:
16	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
17	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
18	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
19	chr12:50035942..50038224-chr12:50100136..50103040,3	MCF-7	breast:
20	chr12:49715364..49717044-chr12:50101181..50102827,2	K562	blood:
21	chr12:50030609..50032918-chr12:50100785..50102656,2	K562	blood:
22	chr12:50030390..50031784-chr12:50101029..50101967,6	MCF-7	breast:
23	chr12:50030096..50031620-chr12:50098053..50100188,2	MCF-7	breast:
24	chr12:50100712..50101488-chrX:47004245..47004840,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRPF40B-2	chr12:50101516-50101622	NONHSAT028131
2	lnc-FMNL3-1	chr12:50101952-50102228	l_640_chr12:50101951-50104817_testes

No data

Variant related genes	Relation type
ENSG00000257570	TF binding region
FMNL3	TF binding region
TMBIM6	TF binding region
ENSG00000257570	CpG island
FMNL3	CpG island
TMBIM6	CpG island
ENSG00000186666	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000161791	chromatin interactions
ENSG00000135451	chromatin interactions
ENSG00000182872	chromatin interactions
ENSG00000110844	chromatin interactions
ENSG00000147123	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527592802	chr12:50100138-50100139	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs546551969	chr12:50100150-50100151	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs563596755	chr12:50100156-50100157	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs566878205	chr12:50100188-50100189	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs532480744	chr12:50100254-50100255	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs574831734	chr12:50100257-50100258	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs549286253	chr12:50100259-50100260	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs114044989	chr12:50100302-50100303	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs112617674	chr12:50100324-50100325	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs569343764	chr12:50100373-50100374	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs538489058	chr12:50100375-50100376	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs555204243	chr12:50100383-50100384	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs568730152	chr12:50100464-50100465	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs534518398	chr12:50100466-50100467	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs114695006	chr12:50100535-50100536	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs183800055	chr12:50100556-50100557	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs140434882	chr12:50100561-50100562	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs188281869	chr12:50100565-50100566	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs191963574	chr12:50100597-50100598	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs372776692	chr12:50100660-50100661	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs377198423	chr12:50100764-50100765	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs561559132	chr12:50100780-50100781	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs183284530	chr12:50100791-50100792	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs370077083	chr12:50100795-50100796	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs374349769	chr12:50100797-50100798	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs369116024	chr12:50100846-50100847	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs374141568	chr12:50100853-50100854	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs187558316	chr12:50100886-50100887	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs377569512	chr12:50100895-50100896	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs370526759	chr12:50100910-50100911	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs569327580	chr12:50100920-50100921	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs200294583	chr12:50100925-50100926	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs568697668	chr12:50100934-50100935	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs35397383	chr12:50100936-50100937	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs534479753	chr12:50100990-50100991	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs150630078	chr12:50100991-50100992	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs554488988	chr12:50101037-50101038	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs570347675	chr12:50101088-50101089	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs539369778	chr12:50101101-50101102	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs555894156	chr12:50101180-50101181	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs575695421	chr12:50101181-50101182	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs191301794	chr12:50101202-50101203	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs202066295	chr12:50101222-50101223	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs555122935	chr12:50101324-50101325	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs571945629	chr12:50101349-50101350	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs138942128	chr12:50101361-50101362	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs564452827	chr12:50101402-50101403	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs529397101	chr12:50101403-50101404	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs530078594	chr12:50101408-50101409	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs577864161	chr12:50101409-50101410	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Lung cancer	18438408	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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50093200-50100200	Weak transcription	Esophagus	oesophagus
2	chr12:50097600-50100400	Weak transcription	Small Intestine	intestine
3	chr12:50098600-50100200	Enhancers	Spleen	Spleen
4	chr12:50098600-50100400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:50098600-50100400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:50098800-50100200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50098800-50100200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:50098800-50100200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr12:50098800-50100200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:50098800-50100400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:50098800-50100400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:50098800-50100400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50098800-50100600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr12:50098800-50101600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:50099000-50100200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:50099000-50100200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:50099000-50100200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:50099000-50100400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:50099000-50100600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:50099000-50101400	Active TSS	Left Ventricle	heart
21	chr12:50099000-50101600	Active TSS	Fetal Kidney	kidney
22	chr12:50099200-50100200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:50099200-50100200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:50099200-50100200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr12:50099200-50100400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr12:50099200-50100400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr12:50099200-50100400	Flanking Active TSS	HMEC	breast
28	chr12:50099200-50100600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr12:50099200-50100600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:50099200-50100600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:50099200-50100600	Flanking Active TSS	Dnd41	blood
32	chr12:50099200-50100800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:50099200-50101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:50099200-50101400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr12:50099400-50100200	Weak transcription	Gastric	stomach
36	chr12:50099400-50100200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr12:50099400-50100400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50099400-50100600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr12:50099400-50100600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:50099400-50100600	Flanking Active TSS	Fetal Thymus	thymus
41	chr12:50099400-50101200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:50099400-50101200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr12:50099400-50101600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:50099600-50100200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
46	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr12:50099600-50100200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr12:50099600-50100200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:50099600-50100200	Enhancers	HepG2	liver
50	chr12:50099600-50100400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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