Variant report

Variant	rs7965141
Chromosome Location	chr12:76000293-76000294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1108515	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1679372	0.82[YRI][hapmap]
rs1679374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1679375	0.82[YRI][hapmap]
rs17115358	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652020	0.82[YRI][hapmap]
rs3864889	0.82[YRI][hapmap]
rs3952736	0.82[YRI][hapmap]
rs4019401	0.82[YRI][hapmap]
rs7964843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979374	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:75991800-76004800	Weak transcription	Aorta	Aorta
3	chr12:75999400-76001600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:75999600-76001400	Enhancers	Brain Germinal Matrix	brain
5	chr12:75999600-76001400	Enhancers	Brain Hippocampus Middle	brain
6	chr12:75999600-76001600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:75999600-76001600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:75999800-76000400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:75999800-76001600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:75999800-76005000	Weak transcription	Pancreas	Pancrea
11	chr12:76000000-76000400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:76000000-76000400	Enhancers	Fetal Stomach	stomach
13	chr12:76000000-76000600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:76000000-76000600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:76000000-76001400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:76000000-76001400	Enhancers	Brain Angular Gyrus	brain
17	chr12:76000000-76001600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:76000200-76001400	Enhancers	Brain Anterior Caudate	brain

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

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