Variant report

Variant	rs218023
Chromosome Location	chr8:118710620-118710621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12542251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508566	0.82[ASN][1000 genomes]
rs218011	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218017	0.92[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs218018	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2737419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876383	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6469701	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6987749	0.95[ASN][1000 genomes]
rs6998416	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7018293	0.92[ASN][1000 genomes]
rs729929	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1018830	chr8:118705140-118720649	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118689200-118718600	Weak transcription	Osteobl	bone
2	chr8:118692400-118714400	Weak transcription	HSMM	muscle
3	chr8:118694600-118723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:118702200-118712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:118705800-118714600	Weak transcription	Esophagus	oesophagus
7	chr8:118708600-118725200	Weak transcription	Ovary	ovary
8	chr8:118709400-118711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:118709400-118712000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
11	chr8:118709800-118710800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:118709800-118711000	Enhancers	Adipose Nuclei	Adipose
13	chr8:118709800-118711000	Enhancers	Fetal Intestine Large	intestine
14	chr8:118710000-118711200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:118710200-118711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:118710400-118713600	Weak transcription	HUVEC	blood vessel
17	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
18	chr8:118710600-118711000	Enhancers	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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