Variant report

Variant	rs2177693
Chromosome Location	chr3:134858117-134858118
allele	A/C
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:18)

rs_ID	r²[population]
rs1159402	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1404581	1.00[JPT][hapmap]
rs1554675	1.00[JPT][hapmap]
rs2400443	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772645	1.00[JPT][hapmap]
rs6439559	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6772933	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6801065	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6805145	1.00[JPT][hapmap]
rs6810117	0.83[GIH][hapmap]
rs73218243	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7373413	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs7373775	1.00[JPT][hapmap]
rs7611233	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7647433	1.00[JPT][hapmap]
rs868909	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs872514	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9836334	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv877516	chr3:134689420-134918522	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv829731	chr3:134711713-134885064	Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134823000-134880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:134847400-134859400	Weak transcription	Brain Anterior Caudate	brain
3	chr3:134850600-134860200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:134851400-134859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:134853000-134858600	Weak transcription	Brain Angular Gyrus	brain
6	chr3:134853000-134858800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:134855800-134862000	Weak transcription	GM12878-XiMat	blood
8	chr3:134856400-134858400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:134856600-134858800	Weak transcription	Psoas Muscle	Psoas
10	chr3:134856600-134859000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:134856600-134861400	Enhancers	Fetal Brain Male	brain
12	chr3:134856800-134859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:134856800-134859800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:134858000-134858600	Weak transcription	Fetal Brain Female	brain
15	chr3:134858000-134861400	Enhancers	Brain Cingulate Gyrus	brain

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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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