Variant report

Variant	rs2938027
Chromosome Location	chr14:79479704-79479705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs154430	1.00[AMR][1000 genomes]
rs1871487	1.00[YRI][hapmap]
rs2170048	1.00[YRI][hapmap]
rs2199795	1.00[YRI][hapmap]
rs2370932	1.00[YRI][hapmap]
rs257203	1.00[AMR][1000 genomes]
rs257204	1.00[AMR][1000 genomes]
rs257205	1.00[AMR][1000 genomes]
rs2653552	1.00[YRI][hapmap]
rs2938025	1.00[AMR][1000 genomes]
rs2938026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938028	1.00[AMR][1000 genomes]
rs2964899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2964901	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs31402	1.00[AMR][1000 genomes]
rs31403	1.00[YRI][hapmap]
rs7157541	1.00[YRI][hapmap]
rs8007547	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1041198	chr14:79452019-79482977	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79477400-79483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:79477400-79483200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:79477600-79483600	Weak transcription	NHDF-Ad	bronchial
4	chr14:79478200-79482400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:79478200-79482400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:79478200-79483000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:79478200-79485400	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:79478400-79483000	Weak transcription	NH-A	brain
9	chr14:79478400-79485200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:79479000-79482400	Weak transcription	Osteobl	bone
11	chr14:79479000-79482600	Weak transcription	NHLF	lung
12	chr14:79479000-79482800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:79479200-79482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:79479400-79479800	Weak transcription	HMEC	breast
15	chr14:79479400-79482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:79479600-79479800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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