Variant report

Variant	rs72750025
Chromosome Location	chr1:228833066-228833067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12024625	0.83[AMR][1000 genomes]
rs12030852	0.83[AMR][1000 genomes]
rs12036237	0.83[AMR][1000 genomes]
rs57678178	0.83[ASN][1000 genomes]
rs72750023	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72751913	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009511	chr1:228791784-228853665	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2762224	chr1:228791784-228867656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228831000-228833600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:228831200-228833600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:228831400-228833200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:228832200-228833600	Enhancers	HepG2	liver
5	chr1:228832200-228833800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:228832400-228833400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:228832400-228833800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:228832600-228833600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:228832600-228833600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:228832600-228833600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:228832800-228833200	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:228832800-228833200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:228832800-228833400	Enhancers	Hela-S3	cervix
14	chr1:228832800-228833600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:228832800-228833600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:228832800-228833600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:228832800-228833600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:228832800-228833600	Enhancers	Adipose Nuclei	Adipose
19	chr1:228832800-228833600	Enhancers	Liver	Liver
20	chr1:228832800-228833600	Enhancers	Brain Germinal Matrix	brain
21	chr1:228832800-228833600	Enhancers	Brain Substantia Nigra	brain
22	chr1:228832800-228833600	Enhancers	Fetal Lung	lung
23	chr1:228833000-228833200	Enhancers	Fetal Thymus	thymus
24	chr1:228833000-228833400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:228833000-228833400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:228833000-228833400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:228833000-228833400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr1:228833000-228833800	Enhancers	Brain Hippocampus Middle	brain

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