Variant report

Variant	rs6686829
Chromosome Location	chr1:78499606-78499607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6694656	0.85[AMR][1000 genomes]
rs74092331	0.83[EUR][1000 genomes]
rs7548467	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7549028	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9661421	0.86[EUR][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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 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	chr1:78485000-78504000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:78485400-78504200	Weak transcription	NH-A	brain
3	chr1:78486400-78509400	Weak transcription	HSMM	muscle
4	chr1:78498600-78500400	Enhancers	NHEK	skin
5	chr1:78498800-78500000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:78498800-78500000	Enhancers	HMEC	breast
7	chr1:78498800-78500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:78498800-78500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:78499400-78500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:78499400-78503600	Weak transcription	Hela-S3	cervix
11	chr1:78499400-78503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:78499400-78509200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:78499600-78500600	Enhancers	K562	blood
14	chr1:78499600-78505000	Weak transcription	Pancreas	Pancrea
15	chr1:78499600-78509200	Weak transcription	Stomach Smooth Muscle	stomach

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Input of quick search could be:

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

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