Variant report

Variant	rs7295016
Chromosome Location	chr12:56040859-56040860
allele	C/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	E2F6	chr12:56039938-56040879	H1-hESC	embryonic stem cell:	n/a	chr12:56040133-56040142 chr12:56040595-56040607

No.	Distal block	Cell Line	Cell type
1	chr12:56040086..56042095-chr12:56114770..56116489,2	MCF-7	breast:
2	chr12:55552029..55554252-chr12:56038940..56041614,2	MCF-7	breast:
3	chr12:55561734..55564390-chr12:56040616..56042476,2	K562	blood:

Variant related genes	Relation type
OR10AE3P	TF binding region
ENSG00000224622	Chromatin interaction
ENSG00000135437	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10783764	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474447	0.97[ASN][1000 genomes]
rs2555034	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2555035	0.87[ASN][1000 genomes]
rs2694014	0.97[ASN][1000 genomes]
rs3953273	0.97[ASN][1000 genomes]
rs4387385	0.82[ASN][1000 genomes]
rs4759183	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6581075	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133382	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7307979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965259	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:56039200-56041200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:56039800-56041200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:56040200-56041000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56040200-56041000	Enhancers	Gastric	stomach
6	chr12:56040200-56041200	Enhancers	Lung	lung
7	chr12:56040400-56041000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:56040400-56041000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:56040400-56041000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr12:56040400-56041200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:56040400-56048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:56040600-56041000	Enhancers	Adipose Nuclei	Adipose
13	chr12:56040600-56041000	Enhancers	Left Ventricle	heart
14	chr12:56040600-56041000	Enhancers	Pancreas	Pancrea
15	chr12:56040600-56041200	Enhancers	Right Atrium	heart
16	chr12:56040600-56041400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:56040600-56041600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:56040600-56041800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:56040600-56042600	Weak transcription	Fetal Intestine Small	intestine
20	chr12:56040600-56043000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:56040800-56041000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:56040800-56041200	Enhancers	K562	blood
23	chr12:56040800-56042600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:56040800-56046000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:56040800-56046800	Weak transcription	Stomach Mucosa	stomach

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