Variant report

Variant	esv7028
Chromosome Location	chr12:123874023-123879670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:297)
CpG islands
(count:367)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr12:123872168-123874833	K562	blood:	n/a	n/a
2	CEBPB	chr12:123877654-123878019	H1-hESC	embryonic stem cell:	n/a	chr12:123877827-123877838
3	CEBPB	chr12:123877660-123877916	A549	lung:	n/a	chr12:123877827-123877838
4	CEBPB	chr12:123877633-123878112	K562	blood:	n/a	chr12:123877827-123877838
5	CEBPB	chr12:123877730-123878023	HepG2	liver:	n/a	chr12:123877827-123877838
6	CEBPB	chr12:123877729-123877871	HepG2	liver:	n/a	chr12:123877827-123877838
7	CEBPB	chr12:123877739-123877999	Hela-S3	cervix:	n/a	chr12:123877827-123877838
8	CEBPB	chr12:123877694-123878015	K562	blood:	n/a	chr12:123877827-123877838
9	CEBPB	chr12:123877639-123878048	K562	blood:	n/a	chr12:123877827-123877838
10	CEBPB	chr12:123877645-123878022	A549	lung:	n/a	chr12:123877827-123877838
11	CEBPB	chr12:123877645-123878021	IMR90	lung:	n/a	chr12:123877827-123877838
12	CEBPD	chr12:123877582-123878081	K562	blood:	n/a	n/a
13	CHD2	chr12:123874289-123874302	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr12:123874352-123874413	GM12878	blood:	n/a	n/a
15	CREB1	chr12:123873952-123874248	A549	lung:	n/a	n/a
16	CTCF	chr12:123874120-123874270	GM12873	blood:	n/a	n/a
17	CTCF	chr12:123874160-123874310	HMEC	breast:	n/a	n/a
18	CTCF	chr12:123874180-123874330	HRE	kidney:	n/a	n/a
19	CTCF	chr12:123875020-123875170	HAc	cerebellar:	n/a	n/a
20	CTCF	chr12:123875220-123875370	HRE	kidney:	n/a	n/a
21	CTCF	chr12:123874228-123874242	GM13976	blood:	n/a	n/a
22	CTCF	chr12:123875160-123875310	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr12:123875000-123875150	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr12:123874260-123874410	GM12866	blood:	n/a	n/a
25	CTCF	chr12:123874060-123874210	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr12:123874160-123874310	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr12:123875200-123875350	AG04449	skin:	n/a	n/a
28	CTCF	chr12:123874300-123874450	GM12874	blood:	n/a	n/a
29	CTCF	chr12:123875240-123875390	NB4	blood:	n/a	n/a
30	CTCF	chr12:123874600-123874750	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:123875120-123875270	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr12:123874300-123874450	BJ	skin:	n/a	n/a
33	CTCF	chr12:123874860-123875010	HMEC	breast:	n/a	n/a
34	CTCF	chr12:123877922-123878024	GM13976	blood:	n/a	n/a
35	CTCF	chr12:123874820-123874970	SAEC	small airway:	n/a	n/a
36	CTCF	chr12:123875300-123875450	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr12:123874180-123874330	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:123874238-123874310	GM10248	blood:	n/a	n/a
39	CTCF	chr12:123874260-123874410	GM12873	blood:	n/a	n/a
40	CTCF	chr12:123874140-123874290	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr12:123874180-123874330	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr12:123875120-123875270	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr12:123875120-123875270	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr12:123874240-123874390	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr12:123875120-123875270	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr12:123875120-123875270	HRE	kidney:	n/a	n/a
47	CTCF	chr12:123874140-123874290	HFF	foreskin:	n/a	n/a
48	CTCF	chr12:123874140-123874290	AG04449	skin:	n/a	n/a
49	CTCF	chr12:123874100-123874250	AG04449	skin:	n/a	n/a
50	CTCF	chr12:123874200-123874350	GM12872	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123874298-123874348	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:123874298-123874348	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:123874298-123874348	GM19239	blood:	n/a
4	chr12:123874466-123874516	AG04450	lung:	fetal
5	chr12:123877320-123877370	AG09309	skin:	n/a
6	chr12:123874456-123874506	CMK	blood:	n/a
7	chr12:123874243-123874293	HMEC	breast:	n/a
8	chr12:123874707-123874757	AG09309	skin:	n/a
9	chr12:123877320-123877370	SK-N-MC	brain:	n/a
10	chr12:123877320-123877370	BE2_C	brain:	n/a
11	chr12:123874466-123874516	K562	blood:	n/a
12	chr12:123874298-123874348	HRCEpiC	kidney:	n/a
13	chr12:123874707-123874757	IMR90	lung:	fetal
14	chr12:123874243-123874293	SK-N-SH_RA	brain:	n/a
15	chr12:123874466-123874516	HEEpiC	esophagus:	n/a
16	chr12:123874456-123874506	AG10803	skin:	n/a
17	chr12:123874707-123874757	BE2_C	brain:	n/a
18	chr12:123877320-123877370	HRPEpiC	eye:	n/a
19	chr12:123874707-123874757	HCM	heart:	n/a
20	chr12:123874707-123874757	GM12878	blood:	n/a
21	chr12:123874298-123874348	NH-A	brain:	n/a
22	chr12:123877320-123877370	HCF	heart:	n/a
23	chr12:123874466-123874516	GM19239	blood:	n/a
24	chr12:123874298-123874348	SAEC	small airway:	n/a
25	chr12:123874243-123874293	AG04450	lung:	fetal
26	chr12:123874243-123874293	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:123874466-123874516	ProgFib	skin:	n/a
28	chr12:123874707-123874757	HRCEpiC	kidney:	n/a
29	chr12:123874466-123874516	HUVEC	blood vessel:	n/a
30	chr12:123874707-123874757	BJ	skin:	n/a
31	chr12:123874466-123874516	Hela-S3	cervix:	n/a
32	chr12:123874456-123874506	HRE	kidney:	n/a
33	chr12:123874466-123874516	SK-N-SH	brain:	n/a
34	chr12:123877320-123877370	NHDF-neo	bronchial:	n/a
35	chr12:123877320-123877370	HNPCEpiC	eye:	n/a
36	chr12:123874466-123874516	BJ	skin:	n/a
37	chr12:123874466-123874516	PFSK-1	brain:	n/a
38	chr12:123877320-123877370	HCPEpiC	choroid plexus:	n/a
39	chr12:123874243-123874293	HAEpiC	amniotic membrane:	n/a
40	chr12:123874707-123874757	AG04450	lung:	fetal
41	chr12:123874298-123874348	PANC-1	pancreas:	n/a
42	chr12:123877320-123877370	NHBE	bronchial:	n/a
43	chr12:123874707-123874757	HRPEpiC	eye:	n/a
44	chr12:123874243-123874293	ProgFib	skin:	n/a
45	chr12:123874456-123874506	U87	brain:	n/a
46	chr12:123877320-123877370	HEK293	kidney:	embryo
47	chr12:123874466-123874516	PANC-1	pancreas:	n/a
48	chr12:123874466-123874516	MCF-7	breast:	n/a
49	chr12:123874243-123874293	ovcar-3	ovarian:	n/a
50	chr12:123874298-123874348	PFSK-1	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:
2	chr12:123866827..123868502-chr12:123879213..123881097,2	K562	blood:
3	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
4	chr12:123753572..123756952-chr12:123872035..123874712,3	MCF-7	breast:
5	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
6	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
7	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
8	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
9	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
10	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
11	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
12	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
13	chr12:123870366..123875219-chr12:124064500..124069174,6	K562	blood:
14	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
15	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
16	chr12:123876121..123878212-chr12:124088472..124090706,2	MCF-7	breast:
17	chr12:123872056..123874942-chr12:124085224..124088307,3	MCF-7	breast:
18	chr12:123872765..123874584-chr2:91935567..91938569,3	MCF-7	breast:
19	chr12:123753478..123757222-chr12:123871925..123875006,5	K562	blood:
20	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
21	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
22	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
23	chr12:123873357..123876856-chr12:123879238..123882589,5	K562	blood:
24	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
25	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
26	chr12:123753349..123756927-chr12:123873006..123875020,4	MCF-7	breast:
27	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
28	chr12:123879282..123881067-chr12:123885695..123887495,2	MCF-7	breast:
29	chr12:123876805..123878620-chr12:123900011..123901536,2	MCF-7	breast:
30	chr12:123876515..123878162-chr12:123919319..123921782,2	MCF-7	breast:
31	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:

No data

Variant related genes	Relation type
SETD8	TF binding region
SETD8	CpG island
ENSG00000121068	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000111328	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186822980	chr12:123874034-123874035	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs528826116	chr12:123874271-123874272	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs546878122	chr12:123874272-123874273	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs553628309	chr12:123874288-123874289	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs538629612	chr12:123874361-123874362	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs377314405	chr12:123874371-123874372	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs191388726	chr12:123874407-123874408	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs370931623	chr12:123874410-123874411	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs28438946	chr12:123874423-123874424	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs374749850	chr12:123874430-123874431	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs536310553	chr12:123874469-123874470	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs555542202	chr12:123874480-123874481	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs117885828	chr12:123874585-123874586	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs370023264	chr12:123874657-123874658	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs545510428	chr12:123874680-123874681	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs541356142	chr12:123874700-123874701	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs183149628	chr12:123874713-123874714	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs577977465	chr12:123874746-123874747	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs188580281	chr12:123874818-123874819	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs563233776	chr12:123874860-123874861	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs140782374	chr12:123874899-123874900	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs76801833	chr12:123874937-123874938	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs561567780	chr12:123875015-123875016	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs192853976	chr12:123875037-123875038	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs546919382	chr12:123875038-123875039	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs201708111	chr12:123875107-123875108	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs532633882	chr12:123875110-123875111	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs550573271	chr12:123875112-123875113	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs200055909	chr12:123875146-123875147	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs371538177	chr12:123875155-123875156	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs202048118	chr12:123875223-123875224	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs536801776	chr12:123875246-123875247	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs146638825	chr12:123875251-123875252	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs567488801	chr12:123875266-123875267	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs534833970	chr12:123875268-123875269	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs116106163	chr12:123875270-123875271	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs187714652	chr12:123875281-123875282	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs538887430	chr12:123875295-123875296	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs74356260	chr12:123875311-123875312	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs373776406	chr12:123875320-123875321	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs116638108	chr12:123875330-123875331	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs374479813	chr12:123875339-123875340	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs368402370	chr12:123875348-123875349	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs371873771	chr12:123875371-123875372	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs192520202	chr12:123875372-123875373	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs201980614	chr12:123875373-123875374	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs368011076	chr12:123875374-123875375	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs183765259	chr12:123875380-123875381	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs572869728	chr12:123875389-123875390	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs28660993	chr12:123875394-123875395	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123872800-123874400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:123872800-123874400	Active TSS	Fetal Brain Female	brain
3	chr12:123872800-123874800	Active TSS	Right Atrium	heart
4	chr12:123872800-123875000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:123872800-123875000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:123873000-123874200	Active TSS	Thymus	Thymus
7	chr12:123873000-123874200	Active TSS	Spleen	Spleen
8	chr12:123873000-123874200	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:123873000-123874400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:123873000-123874400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:123873000-123874400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:123873000-123874400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:123873000-123874400	Active TSS	Brain Germinal Matrix	brain
14	chr12:123873000-123874400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:123873000-123874400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123873000-123874400	Active TSS	Fetal Stomach	stomach
17	chr12:123873000-123874600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123873000-123874600	Active TSS	Brain Angular Gyrus	brain
19	chr12:123873000-123874600	Weak transcription	Fetal Heart	heart
20	chr12:123873000-123874600	Active TSS	Psoas Muscle	Psoas
21	chr12:123873000-123874600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:123873000-123874600	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:123873000-123874600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr12:123873000-123874600	Active TSS	A549	lung
25	chr12:123873000-123874600	Active TSS	HepG2	liver
26	chr12:123873000-123874800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:123873000-123874800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:123873000-123874800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:123873000-123874800	Active TSS	Osteobl	bone
30	chr12:123873000-123875000	Active TSS	Brain Hippocampus Middle	brain
31	chr12:123873000-123875000	Active TSS	Gastric	stomach
32	chr12:123873000-123875000	Active TSS	Lung	lung
33	chr12:123873000-123875000	Active TSS	Small Intestine	intestine
34	chr12:123873000-123875000	Active TSS	HSMM	muscle
35	chr12:123873000-123875200	Active TSS	Left Ventricle	heart
36	chr12:123873000-123875200	Active TSS	HSMMtube	muscle
37	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
38	chr12:123873200-123874200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:123873200-123874200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:123873200-123874200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:123873200-123874200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:123873200-123874200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:123873200-123874200	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr12:123873200-123874200	Active TSS	Primary B cells from cord blood	blood
45	chr12:123873200-123874200	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:123873200-123874200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:123873200-123874200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:123873200-123874200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:123873200-123874200	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:123873200-123874200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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