Variant report

Variant	rs12080852
Chromosome Location	chr1:84416538-84416539
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11163873	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11163880	0.94[AFR][1000 genomes]
rs11163881	0.91[AFR][1000 genomes]
rs11163882	0.94[AFR][1000 genomes]
rs12057657	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12070052	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12072084	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12083946	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12088308	1.00[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs12097645	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12354247	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs28366451	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs41293009	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs45551036	0.92[EUR][1000 genomes]
rs7532131	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7540150	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7551339	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84368400-84416600	Weak transcription	NHLF	lung
2	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
3	chr1:84392200-84422400	Weak transcription	Fetal Stomach	stomach
4	chr1:84392400-84420400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:84399200-84429800	Weak transcription	HSMMtube	muscle
6	chr1:84403600-84426200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:84403600-84427400	Weak transcription	Fetal Brain Female	brain
8	chr1:84409400-84420000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:84409600-84424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:84410400-84425400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:84410400-84426400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:84410400-84428000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:84410600-84426400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:84411400-84417800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:84415800-84416800	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:84416200-84416600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:84416200-84416800	Enhancers	Brain Hippocampus Middle	brain
18	chr1:84416200-84416800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84416200-84425800	Weak transcription	HSMM	muscle
20	chr1:84416400-84416600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:84416400-84416600	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:84416400-84416600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:84416400-84416600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:84416400-84416800	Enhancers	Brain Substantia Nigra	brain
25	chr1:84416400-84416800	Enhancers	Psoas Muscle	Psoas
26	chr1:84416400-84420400	Enhancers	Brain Angular Gyrus	brain
27	chr1:84416400-84428400	Weak transcription	Aorta	Aorta

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