Variant report

Variant	rs57117653
Chromosome Location	chr18:8401469-8401470
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	POLR2A	chr18:8401465-8401540	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000265413	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3786364	0.97[ASN][1000 genomes]
rs9955719	0.99[ASN][1000 genomes]
rs9966297	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
8	chr18:8381000-8405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:8382400-8409400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:8382600-8406400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:8382600-8407200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:8387200-8409200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:8388000-8406200	Weak transcription	Fetal Brain Male	brain
14	chr18:8388000-8408000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr18:8388200-8403800	Weak transcription	Brain Hippocampus Middle	brain
16	chr18:8388200-8405800	Weak transcription	Fetal Brain Female	brain
17	chr18:8388200-8408200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:8388400-8409200	Weak transcription	Fetal Heart	heart
19	chr18:8388400-8410800	Weak transcription	Brain Anterior Caudate	brain
20	chr18:8388600-8406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:8388600-8407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:8388600-8410600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:8391800-8410600	Weak transcription	A549	lung
24	chr18:8392200-8409600	Weak transcription	Osteobl	bone
25	chr18:8392800-8402200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:8393000-8402400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8393200-8402200	Strong transcription	Lung	lung
28	chr18:8393200-8408800	Strong transcription	Left Ventricle	heart
29	chr18:8393400-8402000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:8393800-8402400	Strong transcription	Ovary	ovary
31	chr18:8393800-8411200	Weak transcription	Fetal Kidney	kidney
32	chr18:8394000-8402400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr18:8394000-8409200	Strong transcription	Fetal Stomach	stomach
34	chr18:8394600-8402000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr18:8394600-8407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:8394600-8411600	Weak transcription	Placenta	Placenta
37	chr18:8394800-8403600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:8395000-8402000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:8395000-8402200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr18:8395400-8402400	Strong transcription	Adipose Nuclei	Adipose
41	chr18:8395600-8407000	Weak transcription	Brain Substantia Nigra	brain
42	chr18:8396600-8404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:8396800-8405800	Weak transcription	Liver	Liver
44	chr18:8397600-8409000	Strong transcription	Fetal Muscle Leg	muscle
45	chr18:8398000-8410000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:8398200-8401600	Weak transcription	Aorta	Aorta
47	chr18:8399200-8401800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:8399400-8401600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr18:8399600-8402400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:8399600-8403200	Strong transcription	Fetal Thymus	thymus

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