Variant report

Variant	rs665379
Chromosome Location	chr1:67212069-67212070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493414	0.89[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10889648	0.83[ASN][1000 genomes]
rs11208949	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12029896	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12117649	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs12563682	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1325265	0.81[ASN][1000 genomes]
rs1325266	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs1359462	0.83[ASN][1000 genomes]
rs2031477	0.81[ASN][1000 genomes]
rs2146905	0.89[CHB][hapmap]
rs2454325	0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4143025	0.83[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs475762	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs502376	0.89[AFR][1000 genomes]
rs510771	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs531378	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs566057	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs587125	0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs609707	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs666604	0.82[AFR][1000 genomes]
rs6668681	0.83[ASN][1000 genomes]
rs6682534	0.88[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs678499	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7529763	0.82[EUR][1000 genomes];0.83[ASN][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:67196600-67212800	Weak transcription	Fetal Brain Female	brain
5	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:67205800-67217000	Weak transcription	NHLF	lung
9	chr1:67205800-67217400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
12	chr1:67206000-67215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:67207400-67217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:67207400-67217400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:67208600-67212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67210400-67212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:67210400-67214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:67211000-67212600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:67211600-67216800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:67211800-67212600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:67211800-67213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67211800-67214800	Enhancers	NHDF-Ad	bronchial
23	chr1:67212000-67212200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:67212000-67213600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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