Variant report

Variant	rs1838682
Chromosome Location	chr5:114717421-114717422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10447263	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12516512	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12519220	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1445697	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1455849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1455850	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17137700	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2416401	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2416402	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2416403	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2416404	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2416406	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2591258	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2605178	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2605179	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2900093	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34919660	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35900499	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4705524	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4705733	0.82[AFR][1000 genomes]
rs7703838	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7704303	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7715232	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7721559	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7733943	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3470654	chr5:114706116-114721234	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3470655	chr5:114706116-114721234	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv1025594	chr5:114706443-114721081	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv441963	chr5:114706443-114721085	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv34270	chr5:114709101-114721101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv34634	chr5:114709137-114723044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv34713	chr5:114709137-114723044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
2	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:114713800-114719400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:114716000-114720600	Weak transcription	Fetal Kidney	kidney
5	chr5:114716800-114717800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:114716800-114718000	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:114717000-114717600	Enhancers	HUVEC	blood vessel
8	chr5:114717000-114718400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114717200-114717600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:114717200-114717600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:114717200-114717600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:114717200-114717800	Enhancers	Osteobl	bone
13	chr5:114717200-114718000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:114717200-114718000	Enhancers	NHDF-Ad	bronchial
15	chr5:114717200-114719200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:114717400-114717600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:114717400-114717600	Enhancers	Fetal Muscle Trunk	muscle
18	chr5:114717400-114718000	Enhancers	NHLF	lung

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