Variant report

Variant	rs41509345
Chromosome Location	chr2:133709818-133709819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166558	0.92[CHB][hapmap]
rs10174992	0.92[CHB][hapmap]
rs13382829	0.92[CHB][hapmap]
rs16843790	0.92[CHB][hapmap];1.00[MEX][hapmap]
rs16843895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16843917	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs16843948	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57421240	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67061818	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72614496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72614497	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72614498	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72614499	0.95[ASN][1000 genomes]
rs7606910	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:133699200-133720600	Weak transcription	Fetal Lung	lung
2	chr2:133701600-133727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:133701800-133710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:133702200-133724400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:133705600-133720600	Weak transcription	Fetal Stomach	stomach
6	chr2:133708000-133710400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:133708600-133710200	Enhancers	Fetal Brain Female	brain
8	chr2:133708600-133710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:133709200-133710000	Weak transcription	Fetal Brain Male	brain
10	chr2:133709200-133710800	Weak transcription	Brain Angular Gyrus	brain
11	chr2:133709200-133714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:133709600-133710400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:133709600-133721600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:133709800-133720600	Weak transcription	Fetal Kidney	kidney
15	chr2:133709800-133721600	Weak transcription	Cortex derived primary cultured neurospheres	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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