Variant report

Variant	rs9431080
Chromosome Location	chr1:221402517-221402518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs7522887	1.00[ASN][1000 genomes]
rs7525103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7536615	1.00[ASN][1000 genomes]
rs9431075	1.00[ASN][1000 genomes]
rs9431077	1.00[ASN][1000 genomes]
rs9431078	1.00[ASN][1000 genomes]
rs9431084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9431442	1.00[ASN][1000 genomes]
rs9431450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221400800-221402600	Enhancers	Left Ventricle	heart
2	chr1:221400800-221402800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:221401000-221402600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:221401000-221402600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:221401000-221402600	Enhancers	Adipose Nuclei	Adipose
6	chr1:221401000-221402600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:221401000-221402600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:221401200-221402600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:221401200-221402600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:221401400-221402600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:221401400-221402600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:221401400-221402600	Enhancers	Fetal Heart	heart
13	chr1:221401400-221404400	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:221401600-221402600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:221401600-221402600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:221401800-221403600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:221402000-221402600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:221402000-221402600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:221402000-221402600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:221402000-221402800	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:221402200-221402600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:221402200-221402600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:221402200-221402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:221402400-221402600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr1:221402400-221402600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr1:221402400-221402600	Enhancers	Fetal Lung	lung
27	chr1:221402400-221402800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr1:221402400-221403600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:221402400-221410600	Weak transcription	Psoas Muscle	Psoas

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