Variant report

Variant	rs12967886
Chromosome Location	chr18:11909506-11909507
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr18:11909460-11909906	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr18:11909476-11909866	MCF10A-Er-Src	breast:	n/a	n/a
3	MTA3	chr18:11907879-11909796	GM12878	blood:	n/a	n/a
4	MYC	chr18:11909211-11909825	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr18:11909305-11909913	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr18:11908034-11909826	GM18505	blood:	n/a	n/a
7	POLR2A	chr18:11908039-11909690	GM18951	blood:	n/a	n/a
8	UBTF	chr18:11908077-11909523	K562	blood:	n/a	n/a
9	MAZ	chr18:11907971-11910210	IMR90	lung:	n/a	n/a
10	POLR2A	chr18:11908117-11910091	K562	blood:	n/a	n/a
11	POLR2A	chr18:11907894-11909826	PBDE	blood:	n/a	n/a
12	IKZF1	chr18:11909359-11909776	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:11907210-11909877	GM12891	blood:	n/a	n/a
14	POLR2A	chr18:11908051-11909816	GM12892	blood:	n/a	n/a
15	MXI1	chr18:11907911-11909699	SK-N-SH	brain:	n/a	n/a
16	FOS	chr18:11909467-11909827	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr18:11909472-11909814	MCF10A-Er-Src	breast:	n/a	n/a
18	ARID3A	chr18:11909461-11909993	HepG2	liver:	n/a	n/a
19	NFIC	chr18:11909403-11909857	GM12878	blood:	n/a	n/a
20	POLR2A	chr18:11907890-11909865	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr18:11907829-11910060	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA3	chr18:11909455-11909752	SH-SY5Y	brain:	n/a	n/a
23	MXI1	chr18:11907525-11910099	IMR90	lung:	n/a	n/a
24	REST	chr18:11907788-11909564	H1-neurons	neurons:	n/a	chr18:11909007-11909017
25	NFE2	chr18:11909490-11909590	GM12878	blood:	n/a	n/a
26	POLR2A	chr18:11908047-11909625	GM18526	blood:	n/a	n/a
27	BATF	chr18:11909467-11909856	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:11907056-11909867	IMR90	lung:	n/a	n/a
29	RUNX3	chr18:11909247-11909857	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:11908006-11909999	GM12878	blood:	n/a	n/a
31	MAZ	chr18:11909389-11909614	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11908518..11911302-chr18:12009524..12011140,2	MCF-7	breast:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11848894..11852838-chr18:11907232..11909901,3	MCF-7	breast:
4	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:
5	chr12:56550673..56553390-chr18:11908435..11911361,2	MCF-7	breast:
6	chr18:11899627..11904640-chr18:11906955..11910092,5	MCF-7	breast:
7	chr10:75543773..75546549-chr18:11908703..11911397,2	MCF-7	breast:
8	chr18:11899621..11904572-chr18:11905422..11909871,7	K562	blood:
9	chr18:11885563..11889310-chr18:11906331..11909961,4	MCF-7	breast:
10	chr18:11851217..11853122-chr18:11907362..11910210,4	MCF-7	breast:
11	chr18:11901497..11903544-chr18:11908058..11909728,2	MCF-7	breast:

No data

Variant related genes	Relation type
MPPE1	TF binding region
ENSG00000214655	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000154889	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1808930	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1808931	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1822378	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34755275	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505681	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505682	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505683	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506961	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8090869	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8091142	0.80[EUR][1000 genomes]
rs8091990	0.95[ASN][1000 genomes]
rs8093997	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8095656	0.97[ASN][1000 genomes]
rs9965323	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1059775	chr18:11892845-11911143	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv909383	chr18:11904266-11926730	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11907200-11909600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:11907200-11909600	Active TSS	Right Atrium	heart
3	chr18:11907400-11909600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:11907600-11909600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:11907600-11909600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:11907600-11909600	Active TSS	Duodenum Mucosa	Duodenum
7	chr18:11907600-11909600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr18:11907600-11909600	Active TSS	Psoas Muscle	Psoas
9	chr18:11907600-11909800	Active TSS	HSMMtube	muscle
10	chr18:11907600-11910000	Active TSS	Colonic Mucosa	Colon
11	chr18:11907800-11909600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr18:11907800-11909600	Active TSS	Aorta	Aorta
13	chr18:11907800-11909600	Active TSS	Colon Smooth Muscle	Colon
14	chr18:11907800-11909600	Active TSS	Right Ventricle	heart
15	chr18:11907800-11909600	Active TSS	Stomach Smooth Muscle	stomach
16	chr18:11907800-11909600	Active TSS	Thymus	Thymus
17	chr18:11907800-11909600	Active TSS	HepG2	liver
18	chr18:11907800-11909600	Active TSS	NHLF	lung
19	chr18:11907800-11909800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:11907800-11909800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:11907800-11909800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:11907800-11910000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:11908000-11909600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr18:11908600-11909600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr18:11909000-11909600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr18:11909000-11909600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr18:11909000-11909600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:11909000-11909600	Flanking Active TSS	HMEC	breast
29	chr18:11909000-11909800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr18:11909000-11909800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:11909000-11909800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:11909000-11909800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:11909000-11909800	Flanking Active TSS	Dnd41	blood
34	chr18:11909000-11913000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:11909200-11909600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr18:11909200-11909600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr18:11909200-11909600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr18:11909200-11909600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr18:11909200-11909600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr18:11909200-11909600	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr18:11909200-11909600	Active TSS	Fetal Brain Male	brain
42	chr18:11909200-11909600	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr18:11909200-11909600	Flanking Active TSS	Fetal Kidney	kidney
44	chr18:11909200-11909600	Flanking Active TSS	Fetal Lung	lung
45	chr18:11909200-11909600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr18:11909200-11909600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr18:11909200-11909600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr18:11909200-11909600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr18:11909200-11909600	Flanking Active TSS	NH-A	brain
50	chr18:11909200-11909800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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