Variant report

Variant	rs28435924
Chromosome Location	chr1:224856951-224856952
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224855793..224857580-chr1:224861693..224864223,2	K562	blood:
2	chr1:224855725..224858424-chr1:224861693..224865201,3	K562	blood:
3	chr1:224854862..224857310-chr1:224877505..224879706,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55838462	1.00[AMR][1000 genomes]
rs55987727	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56310058	1.00[AMR][1000 genomes]
rs74146222	1.00[AMR][1000 genomes]
rs74146246	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224832800-224869000	Weak transcription	Dnd41	blood
3	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:224840800-224858000	Weak transcription	NH-A	brain
5	chr1:224851400-224863000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224853600-224857400	Enhancers	Fetal Brain Male	brain
7	chr1:224855200-224857800	Weak transcription	NHLF	lung
8	chr1:224856200-224857000	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:224856200-224857400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:224856200-224858600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224856200-224858600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224856200-224858600	Enhancers	NHDF-Ad	bronchial
13	chr1:224856400-224857400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:224856400-224857800	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:224856600-224857000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:224856600-224857000	Enhancers	Lung	lung
17	chr1:224856600-224857200	Enhancers	Brain Hippocampus Middle	brain
18	chr1:224856600-224857200	Enhancers	Left Ventricle	heart
19	chr1:224856600-224857200	Enhancers	Ovary	ovary
20	chr1:224856600-224857400	Enhancers	Fetal Stomach	stomach
21	chr1:224856600-224857400	Enhancers	Pancreas	Pancrea
22	chr1:224856600-224857600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:224856600-224857600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:224856600-224857800	Enhancers	Brain Substantia Nigra	brain
25	chr1:224856600-224858400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:224856600-224858600	Enhancers	Fetal Muscle Leg	muscle
27	chr1:224856800-224857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:224856800-224857200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:224856800-224857200	Enhancers	Brain Angular Gyrus	brain
30	chr1:224856800-224857400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:224856800-224857400	Enhancers	HMEC	breast

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