Variant report

Variant	rs17007438
Chromosome Location	chr4:124738321-124738322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10009328	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028801	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007477	0.90[EUR][1000 genomes]
rs17491036	0.83[EUR][1000 genomes]
rs28459060	1.00[ASN][1000 genomes]
rs28530617	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28610304	1.00[ASN][1000 genomes]
rs28706352	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41375145	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66477141	0.90[EUR][1000 genomes]
rs6819215	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991633	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 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	chr4:124731600-124741000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:124735200-124753800	Weak transcription	Psoas Muscle	Psoas
3	chr4:124737200-124738800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124737400-124738400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:124737400-124738400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:124737400-124738400	Enhancers	NHDF-Ad	bronchial
7	chr4:124737400-124738800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:124737600-124752200	Weak transcription	Gastric	stomach
9	chr4:124737800-124738400	Enhancers	Fetal Muscle Leg	muscle
10	chr4:124737800-124738400	Enhancers	HSMMtube	muscle
11	chr4:124737800-124740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:124738000-124740800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:124738000-124740800	Weak transcription	NHLF	lung
14	chr4:124738000-124742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:124738200-124738600	Enhancers	Primary B cells from cord blood	blood
16	chr4:124738200-124738600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:124738200-124738800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:124738200-124743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured 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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