Variant report

Variant	rs7670481
Chromosome Location	chr4:58001688-58001689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10004910	0.87[AMR][1000 genomes]
rs11133482	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11133483	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11133484	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13108835	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13124681	0.84[AMR][1000 genomes]
rs13129156	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13147020	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4075349	0.88[EUR][1000 genomes]
rs6554428	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6825609	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7661524	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7681360	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9993153	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57998800-58002600	Weak transcription	HSMM	muscle
2	chr4:57999000-58002200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:57999000-58002400	Weak transcription	NH-A	brain
4	chr4:57999000-58002600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:57999200-58002200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:57999200-58002200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:57999200-58002200	Weak transcription	NHEK	skin
8	chr4:57999200-58002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:57999200-58002400	Weak transcription	HSMMtube	muscle
10	chr4:57999200-58002400	Weak transcription	HUVEC	blood vessel
11	chr4:57999400-58002000	Weak transcription	HMEC	breast
12	chr4:57999400-58002400	Weak transcription	Osteobl	bone
13	chr4:57999800-58002000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:57999800-58002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:58000000-58002400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:58000400-58002400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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