Variant report

Variant	rs778477
Chromosome Location	chr3:23500010-23500011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11708160	0.85[EUR][1000 genomes]
rs11715841	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2055310	0.85[EUR][1000 genomes]
rs2133331	0.86[EUR][1000 genomes]
rs2173460	0.86[EUR][1000 genomes]
rs3111311	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3817002	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4858509	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58748418	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60430884	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6797907	0.86[EUR][1000 genomes]
rs6798153	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6798328	0.84[EUR][1000 genomes]
rs6805889	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73043614	0.86[AMR][1000 genomes]
rs7612666	0.83[EUR][1000 genomes]
rs7613091	0.86[EUR][1000 genomes]
rs778476	0.83[ASN][1000 genomes]
rs778482	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9815921	0.82[EUR][1000 genomes]
rs9830388	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9839738	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23491800-23501200	Weak transcription	Brain Substantia Nigra	brain
2	chr3:23494400-23501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23494400-23502000	Weak transcription	HSMMtube	muscle
4	chr3:23494400-23504200	Weak transcription	Thymus	Thymus
5	chr3:23496400-23500800	Weak transcription	Fetal Heart	heart
6	chr3:23496600-23505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:23496800-23500600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:23497000-23500200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:23497000-23500400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:23497200-23501000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:23497200-23501400	Weak transcription	Psoas Muscle	Psoas
12	chr3:23497400-23501000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:23497400-23502600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:23497600-23501400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:23498000-23500200	Weak transcription	NHLF	lung
16	chr3:23498000-23500400	Weak transcription	NHDF-Ad	bronchial
17	chr3:23498000-23501200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:23498200-23501000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:23498200-23516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:23498400-23501200	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:23498600-23506600	Weak transcription	Primary B cells from cord blood	blood

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