Variant report

Variant	rs12632847
Chromosome Location	chr3:105227613-105227614
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16851258	0.80[ASN][1000 genomes]
rs3772559	0.80[ASN][1000 genomes]
rs56180821	0.85[ASN][1000 genomes]
rs58582466	0.84[ASN][1000 genomes]
rs73006164	0.81[AFR][1000 genomes]
rs7624777	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9842815	0.81[AFR][1000 genomes]
rs9843750	0.81[AFR][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	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv829650	chr3:105070893-105255036	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv460811	chr3:105212993-105316769	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv591240	chr3:105212993-105316769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105210200-105229000	Weak transcription	HSMM	muscle
2	chr3:105210200-105243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:105221400-105300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:105221600-105229800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:105221600-105231800	Weak transcription	NHLF	lung
6	chr3:105222200-105260600	Weak transcription	Fetal Kidney	kidney
7	chr3:105222600-105229000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:105222600-105230000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:105222800-105230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:105222800-105231800	Weak transcription	NH-A	brain
11	chr3:105222800-105246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:105223000-105230000	Weak transcription	A549	lung
13	chr3:105223800-105229000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:105223800-105274800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:105224000-105229200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:105224400-105229000	Weak transcription	Gastric	stomach
17	chr3:105224400-105239600	Weak transcription	GM12878-XiMat	blood
18	chr3:105225800-105236000	Weak transcription	Liver	Liver
19	chr3:105226800-105229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:105226800-105230200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:105227000-105228000	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:105227000-105230000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:105227000-105231600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:105227000-105232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:105227400-105233800	Weak transcription	Brain Substantia Nigra	brain
26	chr3:105227600-105227800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:105227600-105228200	Enhancers	Brain Angular Gyrus	brain

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