Variant report

Variant	rs12542251
Chromosome Location	chr8:118712728-118712729
allele	C/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:13)

rs_ID	r²[population]
rs1508566	0.82[ASN][1000 genomes]
rs218011	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218017	0.81[EUR][1000 genomes]
rs218018	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.82[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:14 , 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
6	esv2472467	chr8:118712294-118713892	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
7	esv6962	chr8:118712546-118713379	Weak transcription	n/a	n/a	inside rSNPs	n/a
8	esv3372813	chr8:118712605-118713306	Weak transcription	n/a	n/a	inside rSNPs	n/a
9	esv2307927	chr8:118712612-118713310	Weak transcription	n/a	n/a	inside rSNPs	n/a
10	esv3479913	chr8:118712671-118713177	Weak transcription	n/a	n/a	inside rSNPs	n/a
11	esv3509480	chr8:118712696-118713236	Weak transcription	n/a	n/a	inside rSNPs	n/a
12	esv3509481	chr8:118712697-118713210	Weak transcription	n/a	n/a	inside rSNPs	n/a
13	esv3509482	chr8:118712721-118713161	Weak transcription	n/a	n/a	inside rSNPs	n/a
14	esv3479911	chr8:118712727-118713185	Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 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	chr8:118702200-118724600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:118705800-118714600	Weak transcription	Esophagus	oesophagus
6	chr8:118708600-118725200	Weak transcription	Ovary	ovary
7	chr8:118709600-118715400	Weak transcription	NHDF-Ad	bronchial
8	chr8:118710400-118713600	Weak transcription	HUVEC	blood vessel
9	chr8:118710400-118737200	Weak transcription	Aorta	Aorta
10	chr8:118710800-118714400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:118711000-118714400	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:118711000-118714600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:118711200-118714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:118712000-118714400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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