Variant report

Variant	rs2075039
Chromosome Location	chr7:103162722-103162723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12671505	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12672733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151558	0.82[CHD][hapmap]
rs17152635	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2079953	0.89[EUR][1000 genomes]
rs2535774	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711854	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3025933	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs362762	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs362777	0.90[JPT][hapmap]
rs3808044	0.82[CHD][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41275233	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470957	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59613376	0.96[AMR][1000 genomes];0.95[EUR][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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv888923	chr7:103143117-103199719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 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	chr7:103130800-103163600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:103137400-103164400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:103156400-103163800	Weak transcription	Brain Substantia Nigra	brain
4	chr7:103158000-103198600	Weak transcription	Liver	Liver
5	chr7:103161000-103168000	Weak transcription	HepG2	liver
6	chr7:103161400-103163400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:103162400-103162800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:103162400-103162800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:103162400-103162800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:103162400-103163000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:103162400-103163000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:103162400-103163000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:103162400-103163200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:103162400-103163200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:103162600-103163200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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