Variant report

Variant	rs7102643
Chromosome Location	chr11:119961097-119961098
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:16)

rs_ID	r²[population]
rs1007530	1.00[ASN][1000 genomes]
rs10160467	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502233	1.00[ASN][1000 genomes]
rs10892537	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11217682	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12276260	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12276427	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12362262	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12365185	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12796257	1.00[ASN][1000 genomes]
rs1941409	1.00[ASN][1000 genomes]
rs20494	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3862647	1.00[ASN][1000 genomes]
rs6589797	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118773	0.96[EUR][1000 genomes]
rs7949366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119956400-119962800	Enhancers	Brain Cingulate Gyrus	brain
2	chr11:119958600-119961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:119959800-119961400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:119960000-119961200	Weak transcription	Aorta	Aorta
5	chr11:119960000-119961200	Weak transcription	Left Ventricle	heart
6	chr11:119960000-119961200	Weak transcription	Right Ventricle	heart
7	chr11:119960000-119963400	Enhancers	Brain Anterior Caudate	brain
8	chr11:119960000-119963600	Enhancers	Brain Substantia Nigra	brain
9	chr11:119960200-119964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:119960400-119963400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:119960600-119962600	Enhancers	Brain Angular Gyrus	brain
12	chr11:119961000-119961200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:119961000-119961800	Enhancers	Esophagus	oesophagus
14	chr11:119961000-119962600	Enhancers	Pancreas	Pancrea

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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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