Variant report

Variant	esv3354947
Chromosome Location	chr12:121974194-121976742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:520)
CpG islands
(count:428)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:121976612-121976646	HepG2	liver:	n/a	n/a
2	ATF2	chr12:121975040-121975373	GM12878	blood:	n/a	n/a
3	ATF2	chr12:121974863-121975618	GM12878	blood:	n/a	n/a
4	ATF2	chr12:121974089-121974803	GM12878	blood:	n/a	n/a
5	ATF2	chr12:121973852-121974853	GM12878	blood:	n/a	n/a
6	ATF3	chr12:121975110-121975357	K562	blood:	n/a	n/a
7	BCL11A	chr12:121974990-121975357	GM12878	blood:	n/a	chr12:121975132-121975145
8	BCL3	chr12:121974913-121975499	A549	lung:	n/a	chr12:121975132-121975145
9	BCL3	chr12:121974904-121975392	GM12878	blood:	n/a	chr12:121975132-121975145
10	BCLAF1	chr12:121974679-121976171	GM12878	blood:	n/a	chr12:121975821-121975834 chr12:121975820-121975833 chr12:121975825-121975834 chr12:121975132-121975145 chr12:121975822-121975831 chr12:121975941-121975954 chr12:121976076-121976089
11	BCLAF1	chr12:121974050-121975635	GM12878	blood:	n/a	chr12:121974662-121974671 chr12:121975132-121975145 chr12:121974244-121974257
12	BHLHE40	chr12:121974605-121975395	HepG2	liver:	n/a	chr12:121975134-121975150
13	BHLHE40	chr12:121973838-121975409	K562	blood:	n/a	chr12:121975134-121975150
14	BHLHE40	chr12:121973771-121975966	GM12878	blood:	n/a	chr12:121975134-121975150 chr12:121975818-121975834
15	BHLHE40	chr12:121976742-121976868	K562	blood:	n/a	n/a
16	BRCA1	chr12:121975051-121975248	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr12:121975379-121975388	HepG2	liver:	n/a	n/a
18	BRCA1	chr12:121976367-121976531	GM12878	blood:	n/a	n/a
19	CBX3	chr12:121975005-121975356	K562	blood:	n/a	n/a
20	CCNT2	chr12:121974908-121975725	K562	blood:	n/a	chr12:121974955-121974964
21	CEBPB	chr12:121975067-121975634	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:121973791-121975435	GM12878	blood:	n/a	n/a
23	CEBPD	chr12:121974738-121975165	HepG2	liver:	n/a	n/a
24	CHD1	chr12:121975898-121976937	GM12878	blood:	n/a	chr12:121976126-121976136
25	CHD1	chr12:121973917-121975652	GM12878	blood:	n/a	n/a
26	CHD2	chr12:121974366-121974539	K562	blood:	n/a	n/a
27	CHD2	chr12:121976304-121976891	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr12:121976054-121976598	GM12878	blood:	n/a	chr12:121976126-121976136
29	CHD2	chr12:121974826-121974856	K562	blood:	n/a	n/a
30	CHD2	chr12:121973564-121975651	GM12878	blood:	n/a	n/a
31	CHD2	chr12:121974710-121975720	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr12:121974907-121975433	HepG2	liver:	n/a	n/a
33	CREB1	chr12:121973803-121975810	GM12878	blood:	n/a	n/a
34	CREB1	chr12:121974820-121975381	A549	lung:	n/a	n/a
35	CTBP2	chr12:121973869-121974694	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr12:121975216-121975245	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr12:121975063-121975219	GM12878	blood:	n/a	chr12:121975108-121975121
38	CTCF	chr12:121975180-121975330	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr12:121975180-121975330	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr12:121974344-121974544	GM12878	blood:	n/a	n/a
41	CTCF	chr12:121975129-121975236	GM19239	blood:	n/a	n/a
42	CTCF	chr12:121975167-121975196	GM12891	blood:	n/a	n/a
43	CTCF	chr12:121976000-121976150	GM12874	blood:	n/a	n/a
44	CTCF	chr12:121975600-121975750	GM12864	blood:	n/a	n/a
45	CTCF	chr12:121976720-121976870	Caco-2	colon:	n/a	n/a
46	CTCF	chr12:121975162-121975253	GM12892	blood:	n/a	n/a
47	CTCF	chr12:121975197-121975234	GM12891	blood:	n/a	n/a
48	CTCF	chr12:121976200-121976350	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:121975572-121975593	GM13976	blood:	n/a	chr12:121975578-121975587
50	CTCF	chr12:121975636-121975686	GM10266	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121975533-121975583	H1-hESC	embryonic stem cell:	embryo
2	chr12:121975533-121975583	H1-hESC	embryonic stem cell:	embryo
3	chr12:121974305-121974355	GM12891	blood:	n/a
4	chr12:121975344-121975394	GM12892	blood:	n/a
5	chr12:121975243-121975293	CMK	blood:	n/a
6	chr12:121974146-121974196	HUVEC	blood vessel:	n/a
7	chr12:121975344-121975394	SKMC	muscle:	n/a
8	chr12:121975121-121975171	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:121975344-121975394	MCF-7	breast:	n/a
10	chr12:121975533-121975583	BJ	skin:	n/a
11	chr12:121975669-121975719	PFSK-1	brain:	n/a
12	chr12:121974146-121974196	Caco-2	colon:	n/a
13	chr12:121975243-121975293	NH-A	brain:	n/a
14	chr12:121975121-121975171	AG09309	skin:	n/a
15	chr12:121975243-121975293	PANC-1	pancreas:	n/a
16	chr12:121975533-121975583	A549	lung:	n/a
17	chr12:121975669-121975719	ECC-1	luminal epithelium:	n/a
18	chr12:121974146-121974196	AG10803	skin:	n/a
19	chr12:121975533-121975583	HL-60	blood:	n/a
20	chr12:121975344-121975394	MCF10A-Er-Src	breast:	n/a
21	chr12:121975121-121975171	GM19239	blood:	n/a
22	chr12:121974305-121974355	ProgFib	skin:	n/a
23	chr12:121975344-121975394	SAEC	small airway:	n/a
24	chr12:121975121-121975171	Hepatocyte	liver:	n/a
25	chr12:121974305-121974355	HCPEpiC	choroid plexus:	n/a
26	chr12:121974146-121974196	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:121974146-121974196	BE2_C	brain:	n/a
28	chr12:121975669-121975719	A549	lung:	n/a
29	chr12:121974146-121974196	Jurkat	blood:	n/a
30	chr12:121974146-121974196	HIPEpiC	eye:	n/a
31	chr12:121975344-121975394	GM12878	blood:	n/a
32	chr12:121975243-121975293	A549	lung:	n/a
33	chr12:121974146-121974196	GM12891	blood:	n/a
34	chr12:121974146-121974196	MCF10A-Er-Src	breast:	n/a
35	chr12:121975669-121975719	HUVEC	blood vessel:	n/a
36	chr12:121974305-121974355	PFSK-1	brain:	n/a
37	chr12:121974146-121974196	HEEpiC	esophagus:	n/a
38	chr12:121975243-121975293	Jurkat	blood:	n/a
39	chr12:121975669-121975719	BE2_C	brain:	n/a
40	chr12:121975669-121975719	HNPCEpiC	eye:	n/a
41	chr12:121975243-121975293	K562	blood:	n/a
42	chr12:121975533-121975583	RPTEC	kidney:	n/a
43	chr12:121975344-121975394	HIPEpiC	eye:	n/a
44	chr12:121975344-121975394	AG09319	gingival:	n/a
45	chr12:121975533-121975583	ECC-1	luminal epithelium:	n/a
46	chr12:121974146-121974196	ECC-1	luminal epithelium:	n/a
47	chr12:121975533-121975583	HepG2	liver:	n/a
48	chr12:121975533-121975583	GM12891	blood:	n/a
49	chr12:121975669-121975719	HepG2	liver:	n/a
50	chr12:121975344-121975394	Jurkat	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121974810..121976577-chr12:122237441..122239422,3	MCF-7	breast:
2	chr12:121937924..121939615-chr12:121975554..121978350,2	MCF-7	breast:
3	chr12:121966142..121973158-chr12:121973289..121976781,9	MCF-7	breast:
4	chr12:121973342..121977941-chr12:121987524..121992877,7	MCF-7	breast:
5	chr12:121973525..121977245-chr12:122063799..122066216,4	K562	blood:
6	chr12:121973453..121977492-chr12:122016919..122020388,4	K562	blood:
7	chr12:121975126..121978118-chr12:121985924..121988501,3	MCF-7	breast:
8	chr12:121945860..121947775-chr12:121975322..121977515,3	MCF-7	breast:
9	chr12:121974674..121977649-chr12:122063134..122066400,4	MCF-7	breast:
10	chr12:121974857..121978322-chr12:122063131..122066228,6	MCF-7	breast:
11	chr12:121975167..121976771-chr12:122063978..122066637,2	K562	blood:
12	chr12:121975169..121976051-chr12:122240783..122241487,2	NB4	blood:
13	chr12:121974472..121977117-chr12:122150068..122152069,2	MCF-7	breast:
14	chr12:121972742..121976523-chr12:121985100..121990052,4	K562	blood:
15	chr12:121974972..121977558-chr12:122231894..122235040,4	MCF-7	breast:
16	chr12:121974542..121976684-chr12:122017365..122019196,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2B	TF binding region
KDM2B	CpG island
ENSG00000256742	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000139725	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538073860	chr12:121974294-121974295	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs28695935	chr12:121974375-121974376	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs28430317	chr12:121974385-121974386	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs115994852	chr12:121974401-121974402	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535667778	chr12:121974454-121974455	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs542101324	chr12:121974504-121974505	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560547789	chr12:121974559-121974560	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs375929895	chr12:121974566-121974567	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs71079076	chr12:121974580-121974581	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs117358699	chr12:121974581-121974582	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs191192858	chr12:121974611-121974612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs372486790	chr12:121974612-121974613	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs546173589	chr12:121974614-121974615	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs564449330	chr12:121974683-121974684	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs373937087	chr12:121974711-121974712	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs113224558	chr12:121974715-121974716	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs386767047	chr12:121974723-121974724	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs149313595	chr12:121974724-121974725	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs529544722	chr12:121974741-121974742	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs73224282	chr12:121974830-121974831	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs183850260	chr12:121974835-121974836	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs188868432	chr12:121974848-121974849	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs552135443	chr12:121974856-121974857	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs373552432	chr12:121974873-121974874	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs138022204	chr12:121974909-121974910	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs28650000	chr12:121974921-121974922	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs556397787	chr12:121975026-121975027	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs55762520	chr12:121975073-121975074	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs574648342	chr12:121975075-121975076	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs377222770	chr12:121975083-121975084	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs553826126	chr12:121975141-121975142	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs28671138	chr12:121975156-121975157	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545910837	chr12:121975168-121975169	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs117131837	chr12:121975176-121975177	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs576149405	chr12:121975187-121975188	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs142487663	chr12:121975197-121975198	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs561954001	chr12:121975233-121975234	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs529485833	chr12:121975269-121975270	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs151313743	chr12:121975434-121975435	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs547949408	chr12:121975465-121975466	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs559830434	chr12:121975477-121975478	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs192915709	chr12:121975511-121975512	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs551909485	chr12:121975527-121975528	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs116221101	chr12:121975529-121975530	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs537951531	chr12:121975536-121975537	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs549945314	chr12:121975540-121975541	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs570003997	chr12:121975612-121975613	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised 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
48	rs373749425	chr12:121975618-121975619	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised 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
49	rs535315804	chr12:121975626-121975627	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised 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
50	rs553914666	chr12:121975676-121975677	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised 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

Variant related diseases (count:73)

Disease	PMID	Source
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
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121932000-121974400	Weak transcription	NHEK	skin
2	chr12:121968200-121974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:121969200-121974600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:121969400-121974200	Strong transcription	Dnd41	blood
5	chr12:121971600-121974600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:121971600-121974600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:121972000-121974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:121972000-121974600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:121972200-121974200	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:121972200-121974600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:121972200-121974600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121972200-121974600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:121972400-121974200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121972400-121974600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:121972400-121975000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:121972400-121975200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:121972600-121974800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:121972600-121974800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:121972800-121974200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:121972800-121974400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:121972800-121974400	Enhancers	Fetal Heart	heart
22	chr12:121972800-121974600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:121973000-121974800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:121973200-121974400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:121973200-121974800	Enhancers	Thymus	Thymus
26	chr12:121973200-121975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:121973200-121975000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:121973200-121976800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr12:121973400-121974200	Flanking Active TSS	Fetal Brain Male	brain
30	chr12:121973400-121974800	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr12:121973400-121975200	Active TSS	Fetal Kidney	kidney
32	chr12:121973400-121975200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr12:121973400-121976800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:121973600-121974200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:121973600-121974200	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr12:121973600-121974200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:121973600-121974200	Flanking Active TSS	Lung	lung
38	chr12:121973600-121974400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:121973600-121974400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr12:121973600-121974400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr12:121973600-121974400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr12:121973600-121974400	Enhancers	HepG2	liver
43	chr12:121973600-121974600	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:121973600-121974600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:121973600-121974600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr12:121973600-121974800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr12:121973600-121974800	Flanking Active TSS	Fetal Thymus	thymus
48	chr12:121973600-121975000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:121973600-121975000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:121973600-121975000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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