Variant report

Variant	rs6681856
Chromosome Location	chr1:193308000-193308001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16835301	1.00[AMR][1000 genomes]
rs56238040	1.00[AMR][1000 genomes]
rs57648443	1.00[AMR][1000 genomes]
rs57963089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60899083	1.00[AMR][1000 genomes]
rs61090037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428164	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662220	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701516	1.00[AMR][1000 genomes]
rs74130949	1.00[AMR][1000 genomes]
rs74130951	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130953	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130959	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130961	1.00[AMR][1000 genomes]
rs74130962	1.00[AMR][1000 genomes]
rs74130963	1.00[AMR][1000 genomes]
rs74130965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130966	1.00[AMR][1000 genomes]
rs74130967	1.00[AMR][1000 genomes]
rs74130968	1.00[AMR][1000 genomes]
rs74130969	1.00[AMR][1000 genomes]
rs74130970	1.00[AMR][1000 genomes]
rs74130971	1.00[AMR][1000 genomes]
rs74130972	1.00[AMR][1000 genomes]
rs7534326	1.00[AMR][1000 genomes]
rs7538857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541789	1.00[AMR][1000 genomes]
rs7542274	1.00[AMR][1000 genomes]
rs7542285	1.00[AMR][1000 genomes]
rs7542739	1.00[AMR][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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193303800-193308000	Enhancers	HSMM	muscle
2	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:193306600-193308000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:193306600-193308200	Enhancers	NHDF-Ad	bronchial
5	chr1:193306800-193308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:193306800-193309000	Enhancers	Osteobl	bone
7	chr1:193307000-193308200	Enhancers	NHLF	lung
8	chr1:193307200-193308000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:193307200-193308400	Weak transcription	Fetal Intestine Large	intestine
10	chr1:193307400-193308000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:193307400-193308400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:193307400-193308400	Weak transcription	HSMMtube	muscle
13	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:193307800-193308000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:193308000-193308200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:193308000-193317400	Weak transcription	HSMM	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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