Variant report

Variant	rs4512595
Chromosome Location	chr1:78757219-78757220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1156032	0.85[YRI][hapmap]
rs1538765	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2149276	0.86[AFR][1000 genomes]
rs2352036	1.00[YRI][hapmap]
rs4650347	0.85[YRI][hapmap]
rs494131	0.85[YRI][hapmap]
rs645528	0.85[YRI][hapmap]

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	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
2	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
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78751400-78758200	Weak transcription	Liver	Liver
2	chr1:78752800-78758000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:78752800-78758000	Weak transcription	Osteobl	bone
4	chr1:78753000-78768800	Weak transcription	NHLF	lung
5	chr1:78753200-78758000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:78754400-78759000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78755200-78757600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:78755400-78758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:78756200-78757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:78756800-78757800	Enhancers	NHDF-Ad	bronchial
11	chr1:78757200-78758600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:78757200-78758600	Enhancers	HSMMtube	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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