Variant report

Variant	rs10494678
Chromosome Location	chr1:192882100-192882101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192880021..192882711-chr1:192883019..192884910,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10801160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801161	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801162	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921285	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921286	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921287	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11580954	0.82[EUR][1000 genomes]
rs11582728	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12024623	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027058	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12039885	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12040715	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402172	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402616	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12403507	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12722757	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12743558	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1417417	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16834964	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370025	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34166327	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4578198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6428142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6671680	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682908	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67192583	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67296011	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514366	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7527185	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538172	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549165	0.99[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv945401	chr1:192878498-192882992	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv519451	chr1:192880701-192888345	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
2	chr1:192877800-192884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:192877800-192884000	Weak transcription	Small Intestine	intestine
4	chr1:192878000-192883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:192878400-192883000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:192878400-192883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192878800-192883000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:192881400-192884400	Enhancers	HSMMtube	muscle
9	chr1:192881800-192883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:192882000-192883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:192882000-192884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:192882000-192884400	Enhancers	Stomach Mucosa	stomach

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