Variant report

Variant	rs56218802
Chromosome Location	chr12:58237127-58237128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58165546..58167388-chr12:58236479..58238079,2	MCF-7	breast:
2	chr12:58236689..58239049-chr12:58299056..58300765,2	K562	blood:
3	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
4	chr12:58234916..58238373-chr12:58245193..58248613,3	K562	blood:
5	chr12:58236777..58241883-chr12:58327592..58331955,7	K562	blood:
6	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
7	chr12:58233944..58243826-chr12:58273095..58290464,46	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSFM-1	chr12:58236351-58237544	NONHSAT028987

No data

Variant related genes	Relation type
ENSG00000245651	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000135446	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28704571	1.00[AMR][1000 genomes]
rs4760331	1.00[AMR][1000 genomes]
rs73338256	1.00[AMR][1000 genomes]
rs73340215	1.00[AMR][1000 genomes]
rs73340232	1.00[AMR][1000 genomes]
rs73340240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340266	1.00[AMR][1000 genomes]
rs73340267	1.00[AMR][1000 genomes]
rs73342234	1.00[AMR][1000 genomes]
rs73344379	1.00[AMR][1000 genomes]
rs73344382	1.00[AMR][1000 genomes]
rs73344386	1.00[AMR][1000 genomes]
rs73344388	1.00[AMR][1000 genomes]
rs73346380	1.00[AMR][1000 genomes]
rs73348214	1.00[AMR][1000 genomes]
rs73348217	1.00[AMR][1000 genomes]
rs7956170	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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58224200-58238200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:58224400-58238000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:58224400-58238200	Enhancers	Spleen	Spleen
4	chr12:58225600-58238200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:58226800-58237800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:58227200-58238200	Enhancers	Small Intestine	intestine
7	chr12:58229200-58238400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr12:58231000-58237600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:58231800-58237400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:58232600-58238200	Enhancers	HUVEC	blood vessel
11	chr12:58233200-58238000	Enhancers	NHEK	skin
12	chr12:58233400-58238600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:58233600-58237400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:58233800-58237400	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr12:58233800-58237400	Enhancers	A549	lung
16	chr12:58233800-58238200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:58233800-58238200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:58234000-58238200	Enhancers	K562	blood
19	chr12:58234000-58238600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr12:58234200-58237200	Flanking Active TSS	Fetal Brain Female	brain
21	chr12:58234400-58238600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:58234400-58238600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr12:58234600-58237400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:58234600-58238000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:58234800-58237400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:58234800-58237600	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:58234800-58238200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:58235200-58239000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:58235400-58237400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:58235400-58238000	Enhancers	Placenta	Placenta
31	chr12:58235600-58237200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:58235800-58237400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr12:58235800-58237400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:58235800-58238600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:58235800-58238800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:58236000-58237200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:58236000-58237200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr12:58236000-58237200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:58236000-58237200	Flanking Active TSS	Right Atrium	heart
40	chr12:58236000-58237600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:58236000-58237600	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr12:58236000-58237600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr12:58236000-58238000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:58236000-58238000	Enhancers	HMEC	breast
45	chr12:58236000-58238200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:58236000-58238200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr12:58236000-58238600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:58236200-58237200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:58236200-58237200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr12:58236200-58237200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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