Variant report

Variant	rs4653595
Chromosome Location	chr1:224908541-224908542
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	chr1:224903179..224905151-chr1:224906238..224908958,2	K562	blood:
2	chr1:224890636..224894116-chr1:224907021..224910162,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10915703	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61825970	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6426154	0.83[ASN][1000 genomes]
rs6690131	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72629697	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7553376	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224885000-224920200	Weak transcription	Right Atrium	heart
2	chr1:224896200-224914000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:224896400-224910600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:224896400-224913800	Weak transcription	NHLF	lung
5	chr1:224896400-224914000	Weak transcription	NH-A	brain
6	chr1:224903000-224914000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:224904600-224908600	Enhancers	Fetal Thymus	thymus
8	chr1:224905000-224909400	Weak transcription	NHDF-Ad	bronchial
9	chr1:224906400-224911000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:224906800-224910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:224906800-224910800	Enhancers	Dnd41	blood
12	chr1:224906800-224911000	Enhancers	Psoas Muscle	Psoas
13	chr1:224907000-224912400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:224907000-224920200	Weak transcription	Gastric	stomach
15	chr1:224907400-224911400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:224907800-224908600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:224908000-224908800	Enhancers	Lung	lung
18	chr1:224908000-224909000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:224908000-224909200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:224908000-224913200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224908200-224909400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:224908400-224909200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:224908400-224909400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:224908400-224909400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:224908400-224910600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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