Variant report

Variant	rs575277
Chromosome Location	chr1:84840096-84840097
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10493748	0.83[EUR][1000 genomes]
rs11805246	0.81[EUR][1000 genomes]
rs315541	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs315542	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs315543	1.00[ASN][1000 genomes]
rs315544	1.00[ASN][1000 genomes]
rs315547	0.95[EUR][1000 genomes]
rs487220	1.00[ASN][1000 genomes]
rs642774	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6667517	0.81[EUR][1000 genomes]
rs6669915	0.81[EUR][1000 genomes]
rs6670075	0.81[EUR][1000 genomes]
rs7521357	0.81[EUR][1000 genomes]
rs786653	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84829800-84840400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:84832600-84842800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:84833200-84842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84836200-84840800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:84836600-84841800	Weak transcription	Fetal Brain Male	brain
6	chr1:84837000-84840200	Weak transcription	Brain Angular Gyrus	brain
7	chr1:84837000-84841800	Weak transcription	NHLF	lung
8	chr1:84837000-84842000	Weak transcription	NH-A	brain
9	chr1:84837200-84840400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:84837200-84842600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:84837400-84840400	Weak transcription	NHDF-Ad	bronchial
12	chr1:84837400-84840600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:84837400-84840600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:84837600-84840400	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:84837800-84841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:84838000-84840800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:84838400-84843800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:84838600-84843200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:84838600-84843600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:84838800-84840200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:84839200-84841600	Enhancers	Fetal Heart	heart
22	chr1:84839400-84840400	Weak transcription	HSMMtube	muscle
23	chr1:84839400-84841800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:84839600-84841000	Enhancers	Psoas Muscle	Psoas
25	chr1:84839600-84845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:84839800-84840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:84839800-84840200	Weak transcription	Osteobl	bone
28	chr1:84839800-84840600	Enhancers	Right Atrium	heart
29	chr1:84839800-84844000	Enhancers	Fetal Muscle Leg	muscle
30	chr1:84840000-84842800	Weak transcription	Left Ventricle	heart

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