Variant report

Variant	rs6991516
Chromosome Location	chr8:49550703-49550704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1384217	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1384219	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1482265	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1564579	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1871890	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1905109	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28786183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4265212	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471945	0.83[EUR][1000 genomes]
rs6471950	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7018074	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7822883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs970767	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49544400-49555400	Weak transcription	Osteobl	bone
3	chr8:49546600-49554400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:49547200-49551200	Weak transcription	Ovary	ovary
5	chr8:49547400-49553400	Weak transcription	Fetal Lung	lung
6	chr8:49548400-49551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:49548600-49551400	Enhancers	HMEC	breast
8	chr8:49548800-49550800	Enhancers	NHEK	skin
9	chr8:49549000-49550800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:49549400-49553400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:49550200-49555800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:49550400-49552000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:49550400-49552800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:49550400-49552800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:49550400-49554200	Weak transcription	Placenta	Placenta
16	chr8:49550400-49556000	Weak transcription	NH-A	brain

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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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