Variant report

Variant	rs62358893
Chromosome Location	chr5:37771983-37771984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11738696	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56053816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62358892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358917	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62358922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358924	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358925	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358927	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358928	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358930	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358931	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358932	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62358933	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62360366	0.83[AMR][1000 genomes]
rs62360370	0.83[AMR][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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37765200-37772200	Enhancers	Liver	Liver
2	chr5:37769200-37773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:37769200-37773800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:37769200-37773800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:37769400-37772800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:37769400-37773200	Enhancers	HMEC	breast
7	chr5:37769400-37773400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:37769400-37774000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:37769600-37772400	Enhancers	Colon Smooth Muscle	Colon
10	chr5:37769600-37773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:37769600-37774000	Enhancers	NHEK	skin
12	chr5:37769800-37772600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:37770000-37772600	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:37770000-37773200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:37770000-37773400	Enhancers	NHLF	lung
16	chr5:37770400-37773400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:37770600-37772400	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:37771000-37772400	Enhancers	Fetal Stomach	stomach
19	chr5:37771200-37772200	Enhancers	Fetal Muscle Leg	muscle
20	chr5:37771200-37772600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:37771400-37772200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:37771400-37772600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:37771400-37773000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:37771600-37772200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:37771600-37772400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:37771600-37774000	Enhancers	HSMM	muscle
27	chr5:37771800-37772200	Enhancers	HSMMtube	muscle
28	chr5:37771800-37772200	Enhancers	NH-A	brain
29	chr5:37771800-37772600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:37771800-37772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:37771800-37774000	Enhancers	NHDF-Ad	bronchial
32	chr5:37771800-37774000	Enhancers	Osteobl	bone

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