Variant report

Variant	rs1387823
Chromosome Location	chr3:21686541-21686542
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1021351	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1032314	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320292	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1387819	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2335812	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3860585	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3936575	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4241507	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6550616	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6793079	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7619318	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7649561	0.83[EUR][1000 genomes]
rs9828403	0.81[EUR][1000 genomes]
rs986043	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9864337	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9881055	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21651600-21686600	Weak transcription	Fetal Stomach	stomach
2	chr3:21682800-21686800	Weak transcription	Psoas Muscle	Psoas
3	chr3:21683600-21686600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:21683800-21686600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:21683800-21686600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:21683800-21706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:21684000-21686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:21684200-21687000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:21684800-21687200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:21685200-21687000	Enhancers	Right Atrium	heart
11	chr3:21685200-21687200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:21685200-21688400	Enhancers	Left Ventricle	heart
13	chr3:21685600-21707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:21685800-21686800	Enhancers	Adipose Nuclei	Adipose
15	chr3:21685800-21688000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:21685800-21688000	Enhancers	Fetal Heart	heart
17	chr3:21685800-21688000	Enhancers	Fetal Muscle Leg	muscle
18	chr3:21686000-21686600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:21686000-21686600	Weak transcription	Right Ventricle	heart
20	chr3:21686200-21686600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:21686200-21686600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:21686200-21686600	Weak transcription	Pancreas	Pancrea
23	chr3:21686200-21686800	Enhancers	NHLF	lung
24	chr3:21686200-21687000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:21686200-21687200	Active TSS	Aorta	Aorta
26	chr3:21686400-21686600	Enhancers	Stomach Smooth Muscle	stomach
27	chr3:21686400-21687200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:21686400-21687400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21686400-21687400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:21686400-21687400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:21686400-21687400	Enhancers	Colon Smooth Muscle	Colon
32	chr3:21686400-21687400	Enhancers	Fetal Lung	lung
33	chr3:21686400-21687400	Enhancers	HSMMtube	muscle
34	chr3:21686400-21687600	Enhancers	HSMM	muscle
35	chr3:21686400-21687800	Enhancers	NH-A	brain

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