Variant report

Variant	rs12140954
Chromosome Location	chr1:210877500-210877501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10494928	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11119571	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11119575	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12127398	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141923	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17188506	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2226023	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs28513183	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210838000-210880400	Weak transcription	Gastric	stomach
2	chr1:210846400-210884600	Weak transcription	Ovary	ovary
3	chr1:210857200-210882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:210858000-210880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:210864400-210889800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:210866800-210884800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:210869800-210882600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:210870400-210879400	Weak transcription	A549	lung
9	chr1:210871200-210932000	Weak transcription	HSMM	muscle
10	chr1:210872000-210879200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:210873800-210880600	Weak transcription	Pancreas	Pancrea
12	chr1:210874200-210878200	Weak transcription	Fetal Stomach	stomach
13	chr1:210874200-210887400	Weak transcription	HSMMtube	muscle
14	chr1:210875000-210879000	Weak transcription	Liver	Liver
15	chr1:210876200-210881200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:210876800-210879000	Enhancers	Fetal Heart	heart
17	chr1:210877200-210888400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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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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