Variant report

Variant	rs57257659
Chromosome Location	chr1:224838745-224838746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224838583..224840769-chr1:224842090..224844375,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56331910	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803202	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes]
rs59093574	1.00[AMR][1000 genomes]
rs60017318	1.00[AMR][1000 genomes]
rs60031851	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61674651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6680134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146215	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146216	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146220	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224827000-224839800	Weak transcription	HSMM	muscle
4	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:224832200-224839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:224832800-224869000	Weak transcription	Dnd41	blood
8	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:224833400-224840600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:224835600-224839800	Weak transcription	Pancreas	Pancrea
11	chr1:224836000-224840200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:224836800-224838800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:224837600-224840000	Weak transcription	Spleen	Spleen
14	chr1:224837600-224840200	Enhancers	Fetal Brain Male	brain
15	chr1:224837800-224838800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224837800-224838800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:224837800-224838800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:224837800-224838800	Enhancers	Fetal Lung	lung
19	chr1:224838200-224839000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:224838200-224839800	Weak transcription	NH-A	brain
21	chr1:224838400-224839400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:224838400-224839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
24	chr1:224838600-224838800	Enhancers	Lung	lung
25	chr1:224838600-224838800	Flanking Active TSS	Ovary	ovary
26	chr1:224838600-224838800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:224838600-224839000	Weak transcription	NHDF-Ad	bronchial
28	chr1:224838600-224839800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:224838600-224839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:224838600-224839800	Weak transcription	NHLF	lung

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