Variant report

Variant	rs2160152
Chromosome Location	chr1:223392038-223392039
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	chr1:223390971..223394178-chr1:223394511..223397786,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11485986	0.91[ASN][1000 genomes]
rs11485988	0.87[EUR][1000 genomes]
rs11488551	0.87[EUR][1000 genomes]
rs1612521	0.89[ASN][1000 genomes]
rs1773719	0.89[ASN][1000 genomes]
rs1773722	0.89[ASN][1000 genomes]
rs1773723	0.89[ASN][1000 genomes]
rs1773753	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2430407	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2430408	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2430409	0.86[EUR][1000 genomes]
rs2430410	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3121256	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34071437	0.86[EUR][1000 genomes]
rs34218350	0.86[EUR][1000 genomes]
rs35169648	0.87[EUR][1000 genomes]
rs35227692	0.86[EUR][1000 genomes]
rs35551279	0.86[EUR][1000 genomes]
rs35644560	0.87[EUR][1000 genomes]
rs35778136	0.86[EUR][1000 genomes]
rs35797130	0.89[ASN][1000 genomes]
rs3768284	0.93[ASN][1000 genomes]
rs4661283	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4661284	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712862	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712863	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712865	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs725972	0.89[ASN][1000 genomes]
rs73118176	0.87[EUR][1000 genomes]
rs73118177	0.87[EUR][1000 genomes]
rs73118181	0.87[EUR][1000 genomes]
rs73118186	0.87[EUR][1000 genomes]
rs73118187	0.87[EUR][1000 genomes]
rs73118190	0.87[EUR][1000 genomes]
rs73118193	0.87[EUR][1000 genomes]
rs73118194	0.87[EUR][1000 genomes]
rs73118198	0.87[EUR][1000 genomes]
rs73118201	0.87[EUR][1000 genomes]
rs73118202	0.87[EUR][1000 genomes]
rs73120203	0.87[EUR][1000 genomes]
rs73120204	0.87[EUR][1000 genomes]
rs73120207	0.87[EUR][1000 genomes]
rs73120219	0.87[EUR][1000 genomes]
rs73120224	0.87[EUR][1000 genomes]
rs73120229	0.87[EUR][1000 genomes]
rs73120232	0.87[EUR][1000 genomes]
rs73120236	0.86[EUR][1000 genomes]
rs73120250	0.86[EUR][1000 genomes]
rs73120253	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73120257	0.86[EUR][1000 genomes]
rs73120261	0.86[EUR][1000 genomes]
rs73120265	0.86[EUR][1000 genomes]
rs73120267	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73120269	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73120297	0.86[EUR][1000 genomes]
rs851140	1.00[EUR][1000 genomes]
rs851144	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs851145	0.86[EUR][1000 genomes]
rs851146	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs851147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851148	0.86[EUR][1000 genomes]
rs851150	0.86[EUR][1000 genomes]
rs851151	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs851152	0.86[EUR][1000 genomes]
rs851154	0.86[EUR][1000 genomes]
rs851155	0.86[EUR][1000 genomes]
rs851156	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs851158	0.86[EUR][1000 genomes]
rs851160	0.89[ASN][1000 genomes]
rs851163	0.87[EUR][1000 genomes];0.89[ASN][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:223387800-223392400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:223387800-223392400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223390200-223394600	Weak transcription	Fetal Brain Male	brain
5	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:223390400-223406400	Weak transcription	Gastric	stomach
7	chr1:223390800-223395000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:223391200-223393200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:223391800-223393000	ZNF genes & repeats	Ovary	ovary
10	chr1:223392000-223393000	ZNF genes & repeats	Fetal Muscle Leg	muscle

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