Variant report

Variant	rs1280313
Chromosome Location	chr1:67208185-67208186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1032634	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1032635	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1280280	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1280310	0.93[EUR][1000 genomes]
rs2146904	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2483704	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2483705	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2916	0.93[EUR][1000 genomes]
rs481681	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs485521	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs485543	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs492109	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs499263	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs502690	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs515944	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs523132	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs523188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs523956	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs524114	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs536410	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs536527	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs539014	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs544258	0.92[EUR][1000 genomes]
rs602513	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs618093	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs628655	0.94[EUR][1000 genomes]
rs659291	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs665319	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6668603	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6669023	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs693272	0.91[EUR][1000 genomes]
rs7554101	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
3	esv3414337	chr1:67208002-67208616	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3397696	chr1:67208052-67208577	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3320155	chr1:67208073-67208573	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3320156	chr1:67208115-67208456	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3320157	chr1:67208129-67208468	Weak transcription Strong transcription	Chromatin interactive region	n/a	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	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:67205600-67211600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:67205800-67211800	Weak transcription	NHDF-Ad	bronchial
13	chr1:67205800-67217000	Weak transcription	NHLF	lung
14	chr1:67205800-67217400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
17	chr1:67206000-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:67206000-67211000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:67206000-67215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:67206600-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:67207400-67211800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67207400-67217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:67207400-67217400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:67208000-67212000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:67208000-67212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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