Variant report

Variant	rs2226092
Chromosome Location	chr1:221339777-221339778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10779426	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10863583	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10863590	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11118643	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs11581606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026738	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12125058	0.83[EUR][1000 genomes]
rs1417922	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1442459	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1442460	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1539138	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2039958	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4484929	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6541174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6657013	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6657966	0.92[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap]
rs6670400	0.89[AFR][1000 genomes]
rs6686093	1.00[CEU][hapmap]
rs6693820	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7515181	0.83[AFR][1000 genomes]
rs9431425	0.81[AFR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221329400-221342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221334400-221339800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:221334400-221339800	Enhancers	HUVEC	blood vessel
4	chr1:221334400-221340800	Enhancers	NHDF-Ad	bronchial
5	chr1:221336000-221341000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:221336000-221342600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:221336600-221340800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:221336600-221341600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:221336600-221342600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:221336600-221343000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:221336800-221342600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:221337000-221342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:221337200-221340600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:221337400-221340600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:221337400-221342600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:221337600-221339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:221338600-221339800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:221338600-221342000	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:221338600-221342200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:221338800-221341200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:221338800-221341800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:221339000-221339800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221339200-221341600	Enhancers	GM12878-XiMat	blood
24	chr1:221339400-221339800	Enhancers	Primary B cells from cord blood	blood
25	chr1:221339400-221339800	Enhancers	Colon Smooth Muscle	Colon
26	chr1:221339600-221339800	Enhancers	Fetal Lung	lung
27	chr1:221339600-221340000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:221339600-221340000	Enhancers	Liver	Liver
29	chr1:221339600-221340000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:221339600-221341400	Enhancers	Adipose Nuclei	Adipose
31	chr1:221339600-221342600	Enhancers	Primary B cells from peripheral blood	blood

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