Variant report

Variant	esv3414733
Chromosome Location	chr12:123875275-123879643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:123877694-123878015	K562	blood:	n/a	chr12:123877827-123877838
2	CEBPB	chr12:123877729-123877871	HepG2	liver:	n/a	chr12:123877827-123877838
3	CEBPB	chr12:123877739-123877999	Hela-S3	cervix:	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	chr12:123877660-123877916	A549	lung:	n/a	chr12:123877827-123877838
7	CEBPB	chr12:123877639-123878048	K562	blood:	n/a	chr12:123877827-123877838
8	CEBPB	chr12:123877645-123878022	A549	lung:	n/a	chr12:123877827-123877838
9	CEBPB	chr12:123877654-123878019	H1-hESC	embryonic stem cell:	n/a	chr12:123877827-123877838
10	CEBPB	chr12:123877645-123878021	IMR90	lung:	n/a	chr12:123877827-123877838
11	CEBPD	chr12:123877582-123878081	K562	blood:	n/a	n/a
12	CTCF	chr12:123875220-123875370	HAc	cerebellar:	n/a	n/a
13	CTCF	chr12:123875140-123875290	AG10803	skin:	n/a	n/a
14	CTCF	chr12:123875180-123875330	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr12:123875300-123875450	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr12:123875160-123875310	AG10803	skin:	n/a	n/a
17	CTCF	chr12:123877922-123878024	GM13976	blood:	n/a	n/a
18	CTCF	chr12:123875160-123875310	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr12:123875200-123875350	AG04449	skin:	n/a	n/a
20	CTCF	chr12:123875180-123875330	BJ	skin:	n/a	n/a
21	CTCF	chr12:123875220-123875370	HRE	kidney:	n/a	n/a
22	CTCF	chr12:123875240-123875390	NB4	blood:	n/a	n/a
23	CTCF	chr12:123875180-123875330	AG04449	skin:	n/a	n/a
24	FOS	chr12:123877739-123877938	MCF10A-Er-Src	breast:	n/a	n/a
25	MAFK	chr12:123875489-123875639	K562	blood:	n/a	n/a
26	MAFK	chr12:123875518-123875653	HepG2	liver:	n/a	n/a
27	MAFK	chr12:123878953-123879005	HepG2	liver:	n/a	n/a
28	MYC	chr12:123875198-123875293	HUVEC	blood vessel:	n/a	n/a
29	MYC	chr12:123875697-123875753	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr12:123879578-123879583	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:123876461-123876492	K562	blood:	n/a	n/a
32	POLR2A	chr12:123876226-123876735	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:123877311-123877422	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:123874824-123875875	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr12:123877640-123877688	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:123879210-123879213	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:123875290-123875377	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:123875389-123875558	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr12:123876296-123876341	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:123876118-123876962	K562	blood:	n/a	n/a
43	POLR2A	chr12:123876819-123877375	K562	blood:	n/a	n/a
44	POLR2A	chr12:123877556-123877576	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:123876268-123877431	K562	blood:	n/a	n/a
46	POLR2A	chr12:123879197-123879580	GM12891	blood:	n/a	n/a
47	POLR2A	chr12:123878968-123880081	K562	blood:	n/a	n/a
48	POLR2A	chr12:123879057-123879719	K562	blood:	n/a	n/a
49	POLR2A	chr12:123875379-123875450	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:123878314-123878341	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123877320-123877370	K562	blood:	n/a
2	chr12:123877320-123877370	HRE	kidney:	n/a
3	chr12:123877320-123877370	GM06990	blood:	n/a
4	chr12:123877320-123877370	GM12878	blood:	n/a
5	chr12:123877320-123877370	Caco-2	colon:	n/a
6	chr12:123877320-123877370	IMR90	lung:	fetal
7	chr12:123877320-123877370	MCF-7	breast:	n/a
8	chr12:123877320-123877370	ProgFib	skin:	n/a
9	chr12:123877320-123877370	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:123877320-123877370	HCT-116	colon:	n/a
11	chr12:123877320-123877370	HEK293	kidney:	embryo
12	chr12:123877320-123877370	HepG2	liver:	n/a
13	chr12:123877320-123877370	SKMC	muscle:	n/a
14	chr12:123877320-123877370	HCPEpiC	choroid plexus:	n/a
15	chr12:123877320-123877370	NHDF-neo	bronchial:	n/a
16	chr12:123877320-123877370	AG09309	skin:	n/a
17	chr12:123877320-123877370	NHBE	bronchial:	n/a
18	chr12:123877320-123877370	RPTEC	kidney:	n/a
19	chr12:123877320-123877370	SAEC	small airway:	n/a
20	chr12:123877320-123877370	BE2_C	brain:	n/a
21	chr12:123877320-123877370	MCF10A-Er-Src	breast:	n/a
22	chr12:123877320-123877370	HRCEpiC	kidney:	n/a
23	chr12:123877320-123877370	AoSMC	blood vessel:	n/a
24	chr12:123877320-123877370	HRPEpiC	eye:	n/a
25	chr12:123877320-123877370	HUVEC	blood vessel:	n/a
26	chr12:123877320-123877370	Hepatocyte	liver:	n/a
27	chr12:123877320-123877370	GM12891	blood:	n/a
28	chr12:123877320-123877370	SK-N-MC	brain:	n/a
29	chr12:123877320-123877370	AG10803	skin:	n/a
30	chr12:123877320-123877370	SK-N-SH_RA	brain:	n/a
31	chr12:123877320-123877370	PFSK-1	brain:	n/a
32	chr12:123877320-123877370	NT2-D1	testis:	n/a
33	chr12:123877320-123877370	CMK	blood:	n/a
34	chr12:123877320-123877370	HIPEpiC	eye:	n/a
35	chr12:123877320-123877370	HL-60	blood:	n/a
36	chr12:123877320-123877370	Jurkat	blood:	n/a
37	chr12:123877320-123877370	HMEC	breast:	n/a
38	chr12:123877320-123877370	Hela-S3	cervix:	n/a
39	chr12:123877320-123877370	BJ	skin:	n/a
40	chr12:123877320-123877370	HAEpiC	amniotic membrane:	n/a
41	chr12:123877320-123877370	NH-A	brain:	n/a
42	chr12:123877320-123877370	T-47D	breast:	n/a
43	chr12:123877320-123877370	GM12892	blood:	n/a
44	chr12:123877320-123877370	HCM	heart:	n/a
45	chr12:123877320-123877370	ovcar-3	ovarian:	n/a
46	chr12:123877320-123877370	AG09319	gingival:	n/a
47	chr12:123877320-123877370	ECC-1	luminal epithelium:	n/a
48	chr12:123877320-123877370	PrEC	prostate:	n/a
49	chr12:123877320-123877370	H1-hESC	embryonic stem cell:	embryo
50	chr12:123877320-123877370	HCF	heart:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
2	chr12:123876805..123878620-chr12:123900011..123901536,2	MCF-7	breast:
3	chr12:123871392..123873266-chr12:123879118..123880787,2	K562	blood:
4	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:
5	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
6	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
7	chr12:123876121..123878212-chr12:124088472..124090706,2	MCF-7	breast:
8	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
9	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
10	chr12:123872355..123875545-chr12:123919640..123922793,3	MCF-7	breast:
11	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
12	chr12:123873357..123876856-chr12:123879238..123882589,5	K562	blood:
13	chr12:123866827..123868502-chr12:123879213..123881097,2	K562	blood:
14	chr12:123876515..123878162-chr12:123919319..123921782,2	MCF-7	breast:
15	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
16	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
17	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
18	chr12:123871385..123875741-chr12:124017374..124019532,6	MCF-7	breast:
19	chr12:123879282..123881067-chr12:123885695..123887495,2	MCF-7	breast:
20	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
21	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:

No data

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

Extended variants
information (count: 168 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	rs565098773	chr12:123875410-123875411	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs201507402	chr12:123875417-123875418	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs550861359	chr12:123875488-123875489	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs188435244	chr12:123875498-123875499	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs149272071	chr12:123875500-123875501	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs372731610	chr12:123875512-123875513	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs28681105	chr12:123875525-123875526	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79073955	chr12:123875538-123875539	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs551918742	chr12:123875595-123875596	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs116855657	chr12:123875601-123875602	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs143532446	chr12:123875637-123875638	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs28573826	chr12:123875650-123875651	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556957714	chr12:123875716-123875717	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs181237310	chr12:123875730-123875731	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs76909472	chr12:123875743-123875744	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs184883228	chr12:123875750-123875751	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs572615632	chr12:123875763-123875764	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs189932586	chr12:123875786-123875787	Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs148040059	chr12:123875815-123875816	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs577014945	chr12:123875827-123875828	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs113020905	chr12:123875828-123875829	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs563018446	chr12:123875842-123875843	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs530384269	chr12:123875844-123875845	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs548301120	chr12:123875848-123875849	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs527528992	chr12:123875858-123875859	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs181520230	chr12:123875890-123875891	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs527834145	chr12:123875916-123875917	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs552692934	chr12:123875931-123875932	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs571499730	chr12:123875947-123875948	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs149494728	chr12:123875961-123875962	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs532321461	chr12:123875983-123875984	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs550720948	chr12:123875986-123875987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs569075195	chr12:123876017-123876018	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs532513193	chr12:123876032-123876033	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs141749604	chr12:123876034-123876035	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs185881243	chr12:123876052-123876053	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

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:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123873000-123875400	Active TSS	Esophagus	oesophagus
2	chr12:123873200-123875400	Active TSS	Aorta	Aorta
3	chr12:123874000-123875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:123874200-123875400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:123874200-123875400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:123874200-123875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:123874200-123875600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:123874200-123876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:123874200-123876800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:123874400-123875400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:123874400-123875400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:123874400-123875400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr12:123874400-123875600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:123874400-123875600	Transcr. at gene 5' and 3'	NHEK	skin
16	chr12:123874400-123875800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:123874400-123875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:123874600-123875400	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr12:123874600-123875400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr12:123874600-123875400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:123874600-123875400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:123874600-123875400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:123874600-123875400	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr12:123874600-123875400	Flanking Active TSS	HUVEC	blood vessel
25	chr12:123874600-123875600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:123874600-123875600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:123874600-123875600	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
29	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
30	chr12:123874600-123875600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr12:123874600-123875600	Transcr. at gene 5' and 3'	NHLF	lung
32	chr12:123874800-123875400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:123874800-123875400	Enhancers	Spleen	Spleen
34	chr12:123874800-123875400	Flanking Active TSS	NH-A	brain
35	chr12:123874800-123875400	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr12:123874800-123875600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:123874800-123875600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr12:123874800-123875600	Genic enhancers	Fetal Thymus	thymus
39	chr12:123874800-123875600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr12:123874800-123875800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:123874800-123876400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:123875000-123875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:123875000-123875400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:123875000-123875400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:123875000-123875400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:123875000-123875400	Enhancers	Colonic Mucosa	Colon
47	chr12:123875000-123875400	Weak transcription	Lung	lung
48	chr12:123875000-123875400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:123875000-123875400	Genic enhancers	Hela-S3	cervix
50	chr12:123875000-123875600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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