Variant report

Variant	rs547926
Chromosome Location	chr1:67207891-67207892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67197999..67199929-chr1:67205946..67207947,2	K562	blood:

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

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

rs_ID	r²[population]
rs10889643	0.87[YRI][hapmap]
rs2025596	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2872078	0.87[YRI][hapmap]
rs4655650	0.82[YRI][hapmap]
rs491854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569827	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs604737	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs609219	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs623421	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6656912	0.82[YRI][hapmap]
rs6689864	0.87[YRI][hapmap]
rs7524851	0.85[YRI][hapmap]
rs9662943	0.82[YRI][hapmap]
rs9988483	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:67192200-67208200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:67196600-67212800	Weak transcription	Fetal Brain Female	brain
7	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:67203000-67208600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:67203800-67208000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:67205600-67211600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:67205800-67211800	Weak transcription	NHDF-Ad	bronchial
14	chr1:67205800-67217000	Weak transcription	NHLF	lung
15	chr1:67205800-67217400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
18	chr1:67206000-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:67206000-67211000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:67206000-67215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:67206400-67208000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:67206600-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:67207400-67211800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:67207400-67217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:67207400-67217400	Weak transcription	Brain Anterior Caudate	brain

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