Variant report

Variant	rs66649041
Chromosome Location	chr1:93274885-93274886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11164814	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11164816	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11164820	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581705	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11583778	1.00[ASN][1000 genomes]
rs11586570	0.85[AMR][1000 genomes]
rs11810111	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738964	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746956	0.82[AMR][1000 genomes]
rs12750269	0.81[AMR][1000 genomes]
rs17614449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893226	0.84[AMR][1000 genomes]
rs34250288	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35031391	0.84[AMR][1000 genomes]
rs35901796	1.00[ASN][1000 genomes]
rs59864761	1.00[ASN][1000 genomes]
rs6687931	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71652507	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 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	chr1:93271000-93276000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93271800-93276800	Weak transcription	K562	blood
3	chr1:93272600-93276000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:93273000-93275000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:93273000-93275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:93273400-93275000	Enhancers	HMEC	breast
7	chr1:93273400-93275000	Enhancers	NHEK	skin
8	chr1:93273600-93275000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:93273600-93275000	Enhancers	Placenta	Placenta
10	chr1:93273600-93275000	Enhancers	Hela-S3	cervix
11	chr1:93274000-93275800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:93274600-93277200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:93274800-93283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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