Variant report

Variant	rs12505161
Chromosome Location	chr4:96079127-96079128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11724729	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11734284	0.89[EUR][1000 genomes]
rs11736371	0.83[EUR][1000 genomes]
rs11939744	0.83[EUR][1000 genomes]
rs12502687	0.94[EUR][1000 genomes]
rs12506780	0.84[EUR][1000 genomes]
rs12510363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023127	0.95[EUR][1000 genomes]
rs28529331	0.89[EUR][1000 genomes]
rs28666440	0.95[EUR][1000 genomes]
rs28680661	0.90[EUR][1000 genomes]
rs28830496	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56351546	0.83[EUR][1000 genomes]
rs56738985	0.95[EUR][1000 genomes]
rs57903047	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs59044097	0.84[EUR][1000 genomes]
rs59169589	0.83[AFR][1000 genomes]
rs59241324	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96034200-96079200	Weak transcription	Fetal Kidney	kidney
2	chr4:96054200-96084000	Weak transcription	A549	lung
3	chr4:96059800-96100400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:96061000-96079800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:96061200-96079200	Weak transcription	Fetal Stomach	stomach
6	chr4:96061200-96079800	Weak transcription	Pancreas	Pancrea
7	chr4:96061200-96088800	Weak transcription	Aorta	Aorta
8	chr4:96061200-96088800	Weak transcription	Ovary	ovary
9	chr4:96075000-96079400	Enhancers	Primary T cells from cord blood	blood
10	chr4:96076000-96082000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:96076600-96081400	Genic enhancers	Dnd41	blood
12	chr4:96076600-96084000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:96077200-96079800	Weak transcription	Fetal Thymus	thymus
14	chr4:96077200-96088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:96077400-96084000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:96077800-96079600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:96077800-96086000	Weak transcription	Thymus	Thymus
18	chr4:96078000-96079400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:96078000-96079600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:96078000-96079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:96078000-96079800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:96078000-96080200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:96078200-96079200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:96078800-96079800	Enhancers	Brain Hippocampus Middle	brain
25	chr4:96078800-96080200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:96078800-96080400	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:96079000-96079400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:96079000-96079400	Enhancers	Fetal Lung	lung
29	chr4:96079000-96080000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:96079000-96080200	Enhancers	Brain Anterior Caudate	brain
31	chr4:96079000-96080400	Enhancers	Brain Angular Gyrus	brain

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