Variant report

Variant	rs17010099
Chromosome Location	chr1:221651945-221651946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221651148..221651987-chr1:222182537..222183210,2	MCF-7	breast:
2	chr1:221644700..221647006-chr1:221650503..221652903,2	MCF-7	breast:
3	chr1:221651383..221651959-chr1:221811085..221811756,3	MCF-7	breast:
4	chr1:221651337..221652127-chr1:222628247..222629064,2	MCF-7	breast:
5	chr1:221649117..221652436-chr1:221913208..221916145,3	MCF-7	breast:
6	chr1:221651246..221652054-chr1:222340121..222340653,3	MCF-7	breast:
7	chr1:221651204..221652055-chr1:222065020..222066030,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12144266	1.00[AMR][1000 genomes]
rs9727396	1.00[AMR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221650600-221652600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:221651000-221652200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:221651000-221652600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:221651000-221652800	Enhancers	Hela-S3	cervix
5	chr1:221651200-221652000	Enhancers	NHEK	skin
6	chr1:221651200-221652000	Enhancers	NHLF	lung
7	chr1:221651200-221652200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:221651200-221652200	Enhancers	HMEC	breast
9	chr1:221651200-221652200	Enhancers	HSMM	muscle
10	chr1:221651200-221652200	Enhancers	NHDF-Ad	bronchial
11	chr1:221651200-221652400	Enhancers	A549	lung
12	chr1:221651200-221652800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:221651400-221652000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:221651400-221652000	Enhancers	Brain Hippocampus Middle	brain
15	chr1:221651400-221652000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:221651400-221652000	Enhancers	NH-A	brain
17	chr1:221651400-221652200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:221651400-221652200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:221651400-221652200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:221651400-221652200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:221651400-221652200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:221651400-221652600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:221651600-221652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:221651600-221652000	Active TSS	Brain Angular Gyrus	brain
25	chr1:221651600-221652000	Enhancers	HSMMtube	muscle
26	chr1:221651600-221652400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:221651600-221652600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:221651600-221652800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:221651800-221652200	Enhancers	Osteobl	bone
30	chr1:221651800-221653000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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