Variant report

Variant	rs7051320
Chromosome Location	chr1:171079700-171079701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12066527	1.00[MEX][hapmap]
rs12074485	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6608462	1.00[AMR][1000 genomes]
rs6608463	1.00[AMR][1000 genomes]
rs7052352	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs7052575	1.00[AMR][1000 genomes]
rs7060028	1.00[AMR][1000 genomes]
rs7881612	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 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	chr1:171075600-171079800	Weak transcription	Pancreas	Pancrea
2	chr1:171077600-171081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:171077800-171080000	Weak transcription	Small Intestine	intestine
4	chr1:171078400-171079800	Weak transcription	Adipose Nuclei	Adipose
5	chr1:171078600-171079800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171079000-171081000	Enhancers	NHLF	lung
7	chr1:171079400-171080000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:171079400-171080800	Genic enhancers	Liver	Liver
9	chr1:171079400-171080800	Enhancers	Right Atrium	heart
10	chr1:171079400-171081000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:171079600-171079800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:171079600-171079800	Enhancers	Left Ventricle	heart
13	chr1:171079600-171080000	Flanking Active TSS	Fetal Lung	lung
14	chr1:171079600-171080200	Enhancers	Aorta	Aorta
15	chr1:171079600-171080200	Enhancers	Esophagus	oesophagus
16	chr1:171079600-171080600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:171079600-171080800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:171079600-171082800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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