Variant report

Variant	rs1098498
Chromosome Location	chr12:44707667-44707668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10506246	0.92[CEU][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10506247	0.85[JPT][hapmap];0.80[MEX][hapmap]
rs10736020	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs1520838	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1527318	0.92[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1527319	0.84[CEU][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1527320	0.84[EUR][1000 genomes]
rs1726886	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1798021	0.92[CEU][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2220726	0.92[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2897810	0.84[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs7300557	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7307771	0.92[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7313324	0.85[JPT][hapmap];0.80[MEX][hapmap]
rs7957859	0.96[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs840771	0.82[ASW][hapmap];0.92[CEU][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs841068	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs9738577	0.92[CEU][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9739776	0.84[CEU][hapmap];0.85[JPT][hapmap];0.85[EUR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv520635	chr12:44707667-44720874	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44703400-44711800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44706800-44711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44707200-44708000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:44707600-44709200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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