Variant report

Variant	rs3097940
Chromosome Location	chr4:124784773-124784774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1347189	0.85[ASN][1000 genomes]
rs1433211	0.89[AFR][1000 genomes]
rs1469718	0.85[ASN][1000 genomes]
rs1469720	0.85[ASN][1000 genomes]
rs2116985	0.85[ASN][1000 genomes]
rs2163876	1.00[CEU][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3097903	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3097908	0.81[ASN][1000 genomes]
rs3097931	0.85[ASN][1000 genomes]
rs3097936	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3097938	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113388	0.86[ASN][1000 genomes]
rs3113389	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3113390	0.86[ASN][1000 genomes]
rs3113392	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3113393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3113395	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3113396	0.86[LWK][hapmap];0.84[YRI][hapmap];0.83[AFR][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	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124778600-124791400	Weak transcription	Left Ventricle	heart
2	chr4:124778600-124791600	Weak transcription	Psoas Muscle	Psoas
3	chr4:124778600-124792400	Weak transcription	Right Atrium	heart
4	chr4:124778600-124797600	Weak transcription	Ovary	ovary
5	chr4:124779600-124790800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:124779800-124791400	Weak transcription	Right Ventricle	heart
7	chr4:124780000-124789800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:124780000-124792600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:124780400-124784800	Weak transcription	Fetal Lung	lung
10	chr4:124780400-124790400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:124782600-124785400	Enhancers	HepG2	liver
12	chr4:124784000-124785000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:124784000-124785600	Enhancers	Fetal Intestine Large	intestine
14	chr4:124784000-124785600	Enhancers	Fetal Intestine Small	intestine
15	chr4:124784600-124785000	Enhancers	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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