Variant report

Variant	rs12304848
Chromosome Location	chr12:117348353-117348354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:117348272-117349519	HCT-116	colon:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
2	TCF12	chr12:117348243-117349092	A549	lung:	n/a	chr12:117348617-117348627
3	POLR2A	chr12:117348332-117349049	PFSK-1	brain:	n/a	n/a
4	SIN3AK20	chr12:117348312-117349090	HCT-116	colon:	n/a	n/a
5	GABPA	chr12:117348191-117349198	HL-60	blood:	n/a	n/a
6	SIN3AK20	chr12:117348274-117348902	A549	lung:	n/a	n/a
7	BCL3	chr12:117348327-117348988	A549	lung:	n/a	chr12:117348737-117348750 chr12:117348744-117348757 chr12:117348736-117348745 chr12:117348758-117348767 chr12:117348738-117348751
8	MYC	chr12:117348122-117349210	A549	lung:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
9	POLR2A	chr12:117348223-117349084	MCF10A-Er-Src	breast:	n/a	n/a
10	SREBP2	chr12:117348298-117349046	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr12:117348160-117349116	HCT-116	colon:	n/a	n/a
12	POLR2A	chr12:117348344-117349347	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:117348347-117349217	PFSK-1	brain:	n/a	n/a
14	MXI1	chr12:117348069-117349735	IMR90	lung:	n/a	n/a
15	MAX	chr12:117348324-117349309	MCF-7	breast:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
16	MAX	chr12:117348331-117349469	Hela-S3	cervix:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
17	MAX	chr12:117348214-117349199	HCT-116	colon:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
18	POLR2A	chr12:117348344-117349402	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr12:117348317-117348942	K562	blood:	n/a	n/a
20	MXI1	chr12:117348045-117349824	SK-N-SH	brain:	n/a	n/a
21	MAX	chr12:117348282-117348948	SK-N-SH	brain:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
22	MAX	chr12:117348156-117349361	A549	lung:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
23	E2F6	chr12:117348258-117349074	A549	lung:	n/a	chr12:117348641-117348652 chr12:117348638-117348655 chr12:117348641-117348652 chr12:117348641-117348652 chr12:117348641-117348652 chr12:117348739-117348749 chr12:117348736-117348746
24	RCOR1	chr12:117348216-117348914	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr12:117348169-117349106	A549	lung:	n/a	n/a
26	USF1	chr12:117348333-117348977	HCT-116	colon:	n/a	n/a
27	GATA3	chr12:117348320-117349080	A549	lung:	n/a	n/a
28	GABPA	chr12:117348346-117349108	SK-N-SH	brain:	n/a	n/a
29	FOSL2	chr12:117348345-117348870	A549	lung:	n/a	n/a
30	MAZ	chr12:117348128-117349520	IMR90	lung:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
31	MAX	chr12:117348341-117349045	SK-N-SH	brain:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
32	HCFC1	chr12:117348215-117349652	Hela-S3	cervix:	n/a	n/a
33	MYC	chr12:117348318-117349397	K562	blood:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
34	MAX	chr12:117348205-117349083	ECC-1	luminal epithelium:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
35	SIX5	chr12:117348237-117349028	A549	lung:	n/a	n/a
36	GABPA	chr12:117348285-117349155	SK-N-SH	brain:	n/a	n/a
37	MAX	chr12:117348303-117348967	MCF-7	breast:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
38	GABPA	chr12:117348198-117349114	A549	lung:	n/a	n/a
39	REST	chr12:117348345-117348984	A549	lung:	n/a	chr12:117348827-117348837
40	EP300	chr12:117348313-117349030	A549	lung:	n/a	chr12:117348737-117348746 chr12:117348748-117348764
41	MAX	chr12:117348309-117349014	H1-hESC	embryonic stem cell:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
42	MAX	chr12:117348314-117349332	ECC-1	luminal epithelium:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
43	MXI1	chr12:117348344-117348988	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr12:117348159-117349410	K562	blood:	n/a	n/a
45	EP300	chr12:117348255-117348989	A549	lung:	n/a	chr12:117348737-117348746 chr12:117348748-117348764
46	MYC	chr12:117348268-117348862	MCF10A-Er-Src	breast:	n/a	chr12:117348669-117348678 chr12:117348700-117348710 chr12:117348669-117348679 chr12:117348670-117348677
47	BCL3	chr12:117348285-117349095	A549	lung:	n/a	chr12:117348737-117348750 chr12:117348744-117348757 chr12:117348736-117348745 chr12:117348758-117348767 chr12:117348738-117348751
48	TCF12	chr12:117348329-117348911	A549	lung:	n/a	chr12:117348617-117348627
49	RUNX3	chr12:117348343-117348931	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:117348322-117349180	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:117344357..117346215-chr12:117348073..117350254,2	K562	blood:
2	chr12:117317029..117319301-chr12:117346996..117349580,2	MCF-7	breast:
3	chr12:117174912..117176575-chr12:117346883..117348986,2	MCF-7	breast:
4	chr12:117314859..117317028-chr12:117347500..117350151,4	MCF-7	breast:
5	chr12:117343212..117346799-chr12:117346816..117349796,3	MCF-7	breast:

Variant related genes	Relation type
FBXW8	TF binding region
ENSG00000135119	Chromatin interaction
ENSG00000240100	Chromatin interaction
ENSG00000135116	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AMR][1000 genomes]
rs11068291	1.00[AMR][1000 genomes]
rs12296579	1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AMR][1000 genomes]
rs12299208	1.00[AMR][1000 genomes]
rs12303371	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[AMR][1000 genomes]
rs12308160	1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[AMR][1000 genomes]
rs12309993	1.00[AMR][1000 genomes]
rs12310473	1.00[AMR][1000 genomes]
rs12311443	1.00[AMR][1000 genomes]
rs12313091	1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AMR][1000 genomes]
rs12322115	1.00[AMR][1000 genomes]
rs61193113	1.00[AMR][1000 genomes]
rs7300401	1.00[AMR][1000 genomes]
rs7309550	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117345000-117348400	Weak transcription	Right Atrium	heart
2	chr12:117348000-117349200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:117348000-117349600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:117348200-117348400	Active TSS	Fetal Brain Male	brain
5	chr12:117348200-117348400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:117348200-117348400	Flanking Active TSS	A549	lung
7	chr12:117348200-117348400	Flanking Active TSS	HepG2	liver
8	chr12:117348200-117348400	Active TSS	HMEC	breast
9	chr12:117348200-117348400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
10	chr12:117348200-117348400	Active TSS	NH-A	brain
11	chr12:117348200-117348600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:117348200-117348800	Flanking Active TSS	Dnd41	blood
13	chr12:117348200-117349200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:117348200-117349200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:117348200-117349200	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:117348200-117349200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr12:117348200-117349200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr12:117348200-117349200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:117348200-117349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:117348200-117349200	Active TSS	Adipose Nuclei	Adipose
21	chr12:117348200-117349200	Active TSS	Duodenum Mucosa	Duodenum
22	chr12:117348200-117349200	Active TSS	GM12878-XiMat	blood
23	chr12:117348200-117349400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:117348200-117349400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:117348200-117349400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:117348200-117349400	Active TSS	Primary T cells from cord blood	blood
27	chr12:117348200-117349400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:117348200-117349400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:117348200-117349400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:117348200-117349400	Active TSS	Fetal Brain Female	brain
31	chr12:117348200-117349400	Active TSS	Fetal Muscle Leg	muscle
32	chr12:117348200-117349400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:117348200-117349400	Active TSS	HUVEC	blood vessel
34	chr12:117348200-117349400	Active TSS	NHEK	skin
35	chr12:117348200-117349400	Active TSS	Osteobl	bone
36	chr12:117348200-117349600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr12:117348200-117349600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:117348200-117349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:117348200-117349600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:117348200-117349600	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:117348200-117349600	Active TSS	Fetal Lung	lung
42	chr12:117348200-117349600	Active TSS	Fetal Stomach	stomach
43	chr12:117348200-117349800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:117348200-117349800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:117348200-117349800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:117348200-117349800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:117348200-117349800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:117348200-117349800	Active TSS	Colon Smooth Muscle	Colon
49	chr12:117348200-117349800	Active TSS	NHDF-Ad	bronchial
50	chr12:117348200-117350000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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