Variant report

Variant	rs1933694
Chromosome Location	chr1:192755492-192755493
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	chr1:192755133..192758594-chr1:192776077..192780199,3	K562	blood:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10737617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737618	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10754031	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10801151	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10801152	0.82[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10801153	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.93[LWK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10801154	0.87[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10921264	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921265	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10921267	0.84[CHB][hapmap];0.91[ASN][1000 genomes]
rs11586572	0.89[ASN][1000 genomes]
rs12565835	0.84[ASN][1000 genomes]
rs1418718	0.86[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap]
rs16834851	0.83[GIH][hapmap];0.83[ASN][1000 genomes]
rs2746071	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs2746072	0.82[ASN][1000 genomes]
rs2746073	0.82[ASN][1000 genomes]
rs3856223	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4128057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6428136	0.87[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.91[ASN][1000 genomes]
rs6670129	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670801	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6670806	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6684156	0.96[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6703040	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7525778	0.91[ASN][1000 genomes]
rs7534336	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7546861	0.91[ASN][1000 genomes]
rs7549721	0.84[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	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192754400-192757400	Weak transcription	HSMMtube	muscle
2	chr1:192754800-192757200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:192755200-192757200	Weak transcription	Osteobl	bone
4	chr1:192755400-192756200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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