Variant report

Variant	rs10251771
Chromosome Location	chr7:78720197-78720198
allele	C/T
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]
rs10232931	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10247631	1.00[AMR][1000 genomes]
rs10251142	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10267082	0.87[ASW][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13437630	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438163	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap]
rs13438374	1.00[YRI][hapmap]
rs55658891	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60980392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946810	0.93[YRI][hapmap]
rs6959070	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73703624	0.83[AFR][1000 genomes];0.87[AMR][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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78719600-78720600	Enhancers	HUVEC	blood vessel
2	chr7:78719800-78720400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:78719800-78720400	Enhancers	NHLF	lung
4	chr7:78719800-78720600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:78719800-78720600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:78719800-78720600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:78719800-78720800	Enhancers	NH-A	brain
8	chr7:78719800-78721400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:78719800-78721400	Enhancers	HMEC	breast
10	chr7:78720000-78720200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78720000-78721400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:78720000-78722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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