Variant report

Variant	rs481681
Chromosome Location	chr1:67194378-67194379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1032634	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032635	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280280	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280310	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280313	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17440989	1.00[ASN][1000 genomes]
rs17492182	1.00[ASN][1000 genomes]
rs2146904	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483704	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483705	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485521	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485543	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492109	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499263	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502690	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515944	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523132	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523188	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523956	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524114	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532564	1.00[ASN][1000 genomes]
rs536410	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539014	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544258	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602513	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618093	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628655	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659291	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665319	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668603	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669023	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs688630	1.00[ASN][1000 genomes]
rs693272	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669501	1.00[ASN][1000 genomes]
rs72671621	1.00[ASN][1000 genomes]
rs72922021	1.00[ASN][1000 genomes]
rs7515848	1.00[ASN][1000 genomes]
rs7554101	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
3	chr1:67171400-67198000	Weak transcription	NHLF	lung
4	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
6	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:67190600-67195000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:67191400-67195000	Enhancers	HUVEC	blood vessel
10	chr1:67191600-67195400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:67191800-67196200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:67191800-67204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:67191800-67204800	Weak transcription	Lung	lung
14	chr1:67192000-67194600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:67192000-67194800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:67192000-67194800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:67192000-67195800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:67192000-67195800	Weak transcription	Fetal Brain Female	brain
19	chr1:67192000-67196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:67192000-67197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:67192000-67204600	Weak transcription	Aorta	Aorta
22	chr1:67192000-67204800	Weak transcription	Left Ventricle	heart
23	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
24	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:67192200-67194400	Weak transcription	Thymus	Thymus
26	chr1:67192200-67204600	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:67192200-67208200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:67192400-67204200	Weak transcription	Brain Anterior Caudate	brain
29	chr1:67193000-67194400	Enhancers	Dnd41	blood
30	chr1:67193000-67195400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:67193000-67199600	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:67193200-67197800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:67193400-67196000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:67193800-67195400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:67193800-67195400	Enhancers	NHEK	skin
36	chr1:67193800-67199600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:67194000-67197400	Weak transcription	Osteobl	bone
38	chr1:67194200-67196800	Weak transcription	NHDF-Ad	bronchial
39	chr1:67194200-67198000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:67194200-67198200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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