Variant report

Variant	rs6683308
Chromosome Location	chr1:184336331-184336332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16823065	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap]
rs16823118	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[MEX][hapmap]
rs16823145	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2207524	1.00[CHB][hapmap]
rs2378842	1.00[CHB][hapmap]
rs3814334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4387139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57590305	0.88[AFR][1000 genomes]
rs6659461	0.80[AFR][1000 genomes]
rs6695258	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6698504	0.88[CHD][hapmap]
rs6699949	0.94[ASN][1000 genomes]
rs73061691	0.84[AFR][1000 genomes]
rs7525041	0.88[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap]
rs7540074	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes]
rs7550032	0.84[AFR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184332800-184336400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:184333800-184336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:184335800-184336800	Enhancers	Osteobl	bone
4	chr1:184336000-184336600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:184336000-184337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:184336200-184336400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184336200-184336400	Enhancers	Psoas Muscle	Psoas
8	chr1:184336200-184337600	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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