Variant report

Variant	rs1416978
Chromosome Location	chr1:193303902-193303903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10158488	0.87[AFR][1000 genomes]
rs2000033	1.00[AFR][1000 genomes]
rs2000034	1.00[AFR][1000 genomes]
rs28877141	0.87[AFR][1000 genomes]
rs6666665	1.00[AFR][1000 genomes]
rs6681616	1.00[AFR][1000 genomes]
rs6684226	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6696831	1.00[AFR][1000 genomes]
rs7555784	0.80[AFR][1000 genomes]
rs9804124	0.96[AFR][1000 genomes]
rs9970143	1.00[AFR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193302800-193304400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:193303200-193305200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:193303400-193304400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:193303600-193304400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:193303600-193304400	Enhancers	HSMMtube	muscle
6	chr1:193303600-193305200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:193303800-193306200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:193303800-193306200	Enhancers	NHDF-Ad	bronchial
9	chr1:193303800-193308000	Enhancers	HSMM	muscle

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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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