Variant report

Variant	rs1240835
Chromosome Location	chr6:16843107-16843108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10949386	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961262	0.88[ASN][1000 genomes]
rs12204538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1240839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529203	0.86[ASN][1000 genomes]
rs2797805	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57489962	0.88[ASN][1000 genomes]
rs6459487	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73725256	0.88[ASN][1000 genomes]
rs770931	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs770935	0.83[ASN][1000 genomes]
rs770937	0.83[ASN][1000 genomes]
rs770938	0.81[ASN][1000 genomes]
rs9464950	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464951	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464952	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9477235	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1015992	chr6:16469059-16846847	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv538148	chr6:16469059-16846847	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:16837400-16849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:16837800-16849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:16838600-16843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:16838600-16849600	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:16838800-16849600	Weak transcription	Brain Germinal Matrix	brain
6	chr6:16840000-16843600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:16841600-16849000	Weak transcription	NH-A	brain
8	chr6:16841800-16849800	Weak transcription	Fetal Brain Female	brain
9	chr6:16842000-16846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:16842200-16844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:16842400-16849600	Weak transcription	NHEK	skin
12	chr6:16842600-16843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:16842600-16844200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:16842600-16849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:16843000-16844800	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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