Variant report

Variant	rs12070052
Chromosome Location	chr1:84348154-84348155
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11163873	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11163881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11163882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12057657	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080852	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12083946	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088308	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12097645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12354247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28366451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41293009	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45551036	1.00[EUR][1000 genomes]
rs7532131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7534340	1.00[AMR][1000 genomes]
rs7540150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551339	1.00[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	nsv947282	chr1:84338235-84350669	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84326800-84348200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84326800-84352600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:84327000-84348400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:84327000-84352400	Weak transcription	Aorta	Aorta
5	chr1:84327000-84361800	Weak transcription	Fetal Brain Female	brain
6	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:84327200-84348600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:84327200-84349600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:84327200-84351400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:84328200-84354400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:84329000-84352200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:84331000-84352400	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:84333400-84382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:84334600-84355400	Weak transcription	HSMMtube	muscle
16	chr1:84335800-84352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:84336400-84349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:84338600-84348200	Weak transcription	Liver	Liver
19	chr1:84338800-84367600	Weak transcription	Pancreas	Pancrea
20	chr1:84341000-84359400	Weak transcription	Psoas Muscle	Psoas
21	chr1:84341200-84380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:84343600-84361800	Weak transcription	Fetal Brain Male	brain
23	chr1:84343800-84348400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:84345600-84348200	Weak transcription	Brain Anterior Caudate	brain
25	chr1:84345600-84384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:84345800-84353800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:84346800-84382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:84348000-84348600	Strong transcription	HSMM	muscle

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