Variant report

Variant	rs34780417
Chromosome Location	chr2:179122931-179122932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1111250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902232	0.81[ASN][1000 genomes]
rs12693156	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13387048	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13425013	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34835220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35313685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433715	0.81[ASN][1000 genomes]
rs6729314	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6741744	1.00[ASN][1000 genomes]
rs6746200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564722	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs919682	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179107800-179123000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:179111200-179137400	Weak transcription	Right Atrium	heart
3	chr2:179120800-179123800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:179121000-179123600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:179121400-179123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:179121600-179123800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:179121600-179126400	Weak transcription	K562	blood
8	chr2:179121800-179123600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:179121800-179123800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:179121800-179128000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:179122800-179123400	Enhancers	Psoas Muscle	Psoas

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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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