Variant report

Variant	rs12138394
Chromosome Location	chr1:193648828-193648829
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193644387..193646892-chr1:193648522..193650062,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12060042	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079227	0.81[ASN][1000 genomes]
rs12116751	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131305	0.85[ASN][1000 genomes]
rs12134206	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12135345	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12144307	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726685	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737948	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747654	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12751433	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756397	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339319	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887629	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195829	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597749	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35418296	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657872	0.81[ASN][1000 genomes]
rs4657874	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60581324	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831962	0.85[ASN][1000 genomes]
rs61831963	0.85[ASN][1000 genomes]
rs6428182	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678275	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689774	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6691652	1.00[CHD][hapmap]
rs6695669	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703565	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71642926	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7512670	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541624	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541925	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7550219	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1012595	chr1:193648643-193682630	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193647400-193649600	Weak transcription	Hela-S3	cervix
2	chr1:193647600-193650200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:193647600-193651200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:193647800-193649000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:193648200-193649000	Weak transcription	Fetal Heart	heart
6	chr1:193648600-193650600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:193648800-193650600	Enhancers	Small Intestine	intestine

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