Variant report

Variant	rs6969907
Chromosome Location	chr7:112054974-112054975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11761827	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771128	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12216563	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223482	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34020242	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35734252	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727770	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4730544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62474016	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6944057	0.84[EUR][1000 genomes]
rs6976652	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720639	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7780160	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7798715	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7810707	0.84[EUR][1000 genomes]
rs9649350	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112046000-112060400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:112051400-112055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:112051600-112055200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:112051600-112055200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:112051600-112062000	Weak transcription	Right Atrium	heart
6	chr7:112051800-112059800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:112051800-112060400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:112051800-112060400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:112052000-112055000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:112052000-112056200	Weak transcription	HUVEC	blood vessel
11	chr7:112052800-112059800	Weak transcription	HepG2	liver
12	chr7:112053800-112062000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:112054000-112055400	Weak transcription	Fetal Thymus	thymus
14	chr7:112054000-112059800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:112054800-112055200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:112054800-112055800	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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