Variant report

Variant	rs11162227
Chromosome Location	chr1:77320014-77320015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77319935..77321770-chr1:77325781..77328772,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10458491	0.88[EUR][1000 genomes]
rs10458495	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873914	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873916	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873921	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162219	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11162221	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11162224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162229	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11162230	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12021695	0.91[EUR][1000 genomes]
rs12073708	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12083190	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316659	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2134460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3902868	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4276957	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61783242	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7534641	0.94[EUR][1000 genomes]
rs7553646	0.94[EUR][1000 genomes]
rs9660120	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9660496	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9661976	0.84[ASN][1000 genomes]
rs9662183	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77319000-77320400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:77319400-77320400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:77319600-77320200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:77319600-77320200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:77319600-77320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:77319800-77320400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:77319800-77321800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:77319800-77333200	Weak transcription	Gastric	stomach
9	chr1:77320000-77320200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:77320000-77320200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:77320000-77320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:77320000-77320400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:77320000-77320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:77320000-77320400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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