Variant report

Variant	rs57719973
Chromosome Location	chr1:224918303-224918304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224909051..224911037-chr1:224918154..224920108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251933	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6702972	1.00[AMR][1000 genomes]
rs74146264	1.00[AMR][1000 genomes]
rs74146265	1.00[AFR][1000 genomes];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	nsv524125	chr1:224902054-225021860	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers 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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224885000-224920200	Weak transcription	Right Atrium	heart
2	chr1:224907000-224920200	Weak transcription	Gastric	stomach
3	chr1:224909200-224920200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:224910400-224920200	Weak transcription	Fetal Thymus	thymus
5	chr1:224911200-224920200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:224914400-224920200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:224914800-224924400	Weak transcription	Ovary	ovary
8	chr1:224915000-224924400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:224915400-224920800	Weak transcription	Spleen	Spleen
10	chr1:224915400-224921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:224915600-224920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:224915600-224920200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:224915600-224920400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:224915600-224921200	Weak transcription	Dnd41	blood
15	chr1:224915800-224919800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:224915800-224921000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:224916000-224921000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:224916000-224921000	Weak transcription	NH-A	brain
19	chr1:224916200-224918400	Weak transcription	Osteobl	bone
20	chr1:224916200-224920000	Weak transcription	HMEC	breast
21	chr1:224916200-224921400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:224916200-224924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:224916400-224920400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:224917200-224918800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:224917400-224921600	Enhancers	NHDF-Ad	bronchial
26	chr1:224917600-224918600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:224917600-224918800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:224917800-224918400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:224917800-224919000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:224918000-224918400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:224918000-224918400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:224918000-224919400	Enhancers	NHLF	lung
33	chr1:224918200-224919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:224918200-224921800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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