Variant report

Variant	rs11588378
Chromosome Location	chr1:223054687-223054688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223054000..223057329-chr1:223060373..223063547,4	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10495202	0.86[AMR][1000 genomes]
rs1132369	0.86[AMR][1000 genomes]
rs1132371	0.86[AMR][1000 genomes]
rs12734196	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17475753	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17475774	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17477752	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17534704	0.86[AMR][1000 genomes]
rs17534774	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17535004	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17535032	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17535137	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17536056	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17536209	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536299	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536396	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536522	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34080450	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34151467	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34194482	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34225287	0.86[AMR][1000 genomes]
rs34232799	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34277924	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34299243	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34355153	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34503525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596963	1.00[ASN][1000 genomes]
rs34643369	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34690779	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34701716	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34713681	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34755094	0.86[AMR][1000 genomes]
rs34761499	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34774807	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34791822	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34804073	0.86[AMR][1000 genomes]
rs34893395	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34962524	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35131473	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35217299	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35270996	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35283922	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35319605	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35356885	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35399857	0.86[AMR][1000 genomes]
rs35506390	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35538644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35551242	0.95[EUR][1000 genomes]
rs35578837	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35597626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35597790	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35689138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35756512	0.82[AMR][1000 genomes]
rs35773347	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35898924	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35912520	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35947021	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36032255	0.82[AMR][1000 genomes]
rs36066427	0.82[AMR][1000 genomes]
rs36090356	0.86[AMR][1000 genomes]
rs36113407	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4298738	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838119	0.86[AMR][1000 genomes]
rs61839587	0.86[AMR][1000 genomes]
rs61839588	0.86[AMR][1000 genomes]
rs61839600	0.86[AMR][1000 genomes]
rs61839601	0.86[AMR][1000 genomes]
rs61839602	0.86[AMR][1000 genomes]
rs61840263	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61840271	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71644708	0.86[AMR][1000 genomes]
rs71644709	0.90[EUR][1000 genomes]
rs71644714	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71644716	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71644718	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	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
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223029800-223066800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223046600-223064200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:223051600-223070600	Weak transcription	Small Intestine	intestine
4	chr1:223051800-223066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:223051800-223070000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:223052600-223055600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:223052800-223060000	Weak transcription	Fetal Lung	lung
9	chr1:223052800-223065600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:223052800-223070200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:223054000-223059800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:223054200-223057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:223054400-223066800	Weak transcription	Fetal Intestine Small	intestine

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