Variant report

Variant	rs1464055
Chromosome Location	chr12:64613438-64613439
allele	C/T
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	MAFK	chr12:64612594-64613493	K562	blood:	n/a	chr12:64613111-64613127 chr12:64613116-64613127 chr12:64613116-64613127 chr12:64613111-64613126 chr12:64613114-64613128 chr12:64613115-64613126 chr12:64613113-64613122
2	CEBPB	chr12:64613347-64613546	K562	blood:	n/a	chr12:64613485-64613496
3	IRF1	chr12:64612025-64613453	K562	blood:	n/a	chr12:64613168-64613182 chr12:64612612-64612626 chr12:64612616-64612627 chr12:64612792-64612802 chr12:64612613-64612626 chr12:64612609-64612630 chr12:64612614-64612626
4	IRF1	chr12:64611974-64614146	K562	blood:	n/a	chr12:64613168-64613182 chr12:64612612-64612626 chr12:64612616-64612627 chr12:64612792-64612802 chr12:64612613-64612626 chr12:64612609-64612630 chr12:64612614-64612626

No.	Distal block	Cell Line	Cell type
1	chr12:64233673..64240233-chr12:64613167..64618011,13	MCF-7	breast:
2	chr12:64612025..64613727-chr12:64614276..64617456,3	K562	blood:
3	chr12:64234247..64239748-chr12:64612699..64616990,14	MCF-7	breast:
4	chr12:64611943..64613525-chr12:64614250..64616027,2	K562	blood:
5	chr12:64604646..64607427-chr12:64613216..64615906,2	K562	blood:
6	chr12:64612135..64614728-chr12:64618417..64620771,2	K562	blood:
7	chr12:64607493..64609309-chr12:64613110..64614641,2	K562	blood:

Variant related genes	Relation type
RPS11P6	TF binding region
ENSG00000243024	Chromatin interaction
ENSG00000196935	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10878126	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1162975	0.96[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12304767	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1657048	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1695105	0.86[YRI][hapmap]
rs2575289	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4491343	0.85[EUR][1000 genomes]
rs699633	0.83[YRI][hapmap]
rs789711	0.89[YRI][hapmap]
rs789721	0.96[YRI][hapmap]
rs789749	0.80[YRI][hapmap]
rs790018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790020	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
2	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
4	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64581400-64614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:64581800-64615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:64582600-64614600	Weak transcription	Hela-S3	cervix
8	chr12:64582600-64614600	Weak transcription	NHDF-Ad	bronchial
9	chr12:64583200-64615400	Weak transcription	Placenta	Placenta
10	chr12:64584800-64615200	Weak transcription	Thymus	Thymus
11	chr12:64586200-64615200	Weak transcription	Right Ventricle	heart
12	chr12:64588400-64614000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:64588400-64614600	Weak transcription	HMEC	breast
14	chr12:64588400-64614800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:64588400-64615000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:64588400-64615000	Weak transcription	HSMM	muscle
17	chr12:64588400-64615200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:64588400-64615400	Weak transcription	Spleen	Spleen
19	chr12:64589000-64613800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:64589000-64614800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:64589000-64614800	Weak transcription	Fetal Thymus	thymus
22	chr12:64589000-64615200	Weak transcription	Fetal Intestine Large	intestine
23	chr12:64589000-64615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:64589400-64614600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:64594600-64615000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:64597400-64615200	Weak transcription	HSMMtube	muscle
27	chr12:64597400-64615400	Weak transcription	Left Ventricle	heart
28	chr12:64598000-64614000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:64598000-64614000	Weak transcription	Brain Substantia Nigra	brain
30	chr12:64598000-64615400	Weak transcription	Aorta	Aorta
31	chr12:64598600-64613800	Weak transcription	Pancreas	Pancrea
32	chr12:64598600-64615000	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:64600200-64615200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:64601600-64615400	Weak transcription	Lung	lung
35	chr12:64601800-64614000	Weak transcription	HepG2	liver
36	chr12:64602000-64614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:64602400-64614800	Weak transcription	Osteobl	bone
38	chr12:64603400-64614600	Weak transcription	NHLF	lung
39	chr12:64604400-64615000	Weak transcription	Adipose Nuclei	Adipose
40	chr12:64604400-64615200	Weak transcription	Fetal Lung	lung
41	chr12:64604800-64615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:64605800-64614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:64606400-64614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:64606400-64615000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:64606400-64615000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:64606600-64615000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:64607000-64615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr12:64607800-64614800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:64608000-64614000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:64608000-64614600	Weak transcription	Brain Inferior Temporal Lobe	brain

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