Variant report

Variant	rs9852717
Chromosome Location	chr3:20710007-20710008
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1039351	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12493317	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1392568	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1392569	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17007299	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2133825	0.82[ASN][1000 genomes]
rs2886695	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2886696	0.88[AFR][1000 genomes]
rs4462985	0.80[ASN][1000 genomes]
rs56117564	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58750373	0.86[AFR][1000 genomes]
rs6778467	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73032743	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73036667	0.93[ASN][1000 genomes]
rs7613234	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7615702	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7623569	0.99[ASN][1000 genomes]
rs9654038	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9826159	0.83[AFR][1000 genomes]
rs9831240	0.85[ASN][1000 genomes]
rs9835693	0.81[ASN][1000 genomes]
rs9840983	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001006	chr3:20110743-20752628	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv536512	chr3:20110743-20752628	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv876598	chr3:20242143-20970042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv876599	chr3:20264950-20813009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv876603	chr3:20626326-20727885	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv460460	chr3:20638228-20718124	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
7	nsv589866	chr3:20638228-20718124	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	nsv876604	chr3:20646486-20710994	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20708000-20711400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:20708000-20711600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:20708200-20711600	Enhancers	NHDF-Ad	bronchial
4	chr3:20709000-20710200	Weak transcription	Aorta	Aorta
5	chr3:20709200-20711200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:20709200-20711400	Enhancers	Fetal Heart	heart
7	chr3:20709400-20710400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:20709400-20711000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr3:20709400-20711000	Enhancers	NH-A	brain
10	chr3:20709400-20711600	Enhancers	Ovary	ovary
11	chr3:20709400-20711600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:20709400-20712400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:20709600-20710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:20709800-20711400	Enhancers	Brain Germinal Matrix	brain
15	chr3:20709800-20711800	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:20710000-20710600	Enhancers	Brain Hippocampus Middle	brain
17	chr3:20710000-20711000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:20710000-20711000	Enhancers	Right Atrium	heart
19	chr3:20710000-20711400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:20710000-20711400	Enhancers	Brain Angular Gyrus	brain
21	chr3:20710000-20711400	Enhancers	Fetal Brain Male	brain
22	chr3:20710000-20711600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:20710000-20711600	Enhancers	Brain Substantia Nigra	brain
24	chr3:20710000-20711600	Enhancers	Fetal Muscle Leg	muscle
25	chr3:20710000-20711600	Enhancers	Left Ventricle	heart
26	chr3:20710000-20711600	Enhancers	Pancreas	Pancrea
27	chr3:20710000-20711600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:20710000-20711600	Enhancers	Stomach Smooth Muscle	stomach
29	chr3:20710000-20711800	Enhancers	Psoas Muscle	Psoas

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