Variant report

Variant	rs1418974
Chromosome Location	chr1:210989781-210989782
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12034491	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1343142	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1418971	0.89[JPT][hapmap]
rs1418973	0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs1573159	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs1630770	0.84[JPT][hapmap]
rs2357922	0.82[JPT][hapmap]
rs2358095	0.89[JPT][hapmap]
rs2884381	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs4098807	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4245746	0.82[JPT][hapmap]
rs4245750	0.83[CHB][hapmap]
rs4370814	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs6540625	0.94[JPT][hapmap]
rs6540630	0.82[JPT][hapmap]
rs6540631	0.82[JPT][hapmap]
rs7529524	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210977600-210993200	Weak transcription	HSMM	muscle
2	chr1:210988000-210990000	Enhancers	HSMMtube	muscle
3	chr1:210988400-210990000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:210989000-210989800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:210989000-210989800	Enhancers	Fetal Brain Female	brain
6	chr1:210989000-210991400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:210989200-210990000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:210989200-210990000	Enhancers	Fetal Heart	heart
9	chr1:210989400-210989800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:210989400-210989800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:210989400-210990600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:210989600-210990000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:210989600-210990000	Enhancers	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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