Variant report

Variant	rs7594117
Chromosome Location	chr2:167470243-167470244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10497289	0.81[AMR][1000 genomes]
rs12998446	0.86[ASN][1000 genomes]
rs13019091	0.83[AMR][1000 genomes]
rs13023658	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34422978	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34484001	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432920	0.81[ASN][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	nsv532474	chr2:166993501-167548531	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752480	chr2:167163493-167567493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv961525	chr2:167467300-167471738	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167465600-167470400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:167465800-167470600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:167467000-167470400	Weak transcription	Fetal Heart	heart
4	chr2:167467200-167470600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:167467400-167470400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:167467800-167470800	Weak transcription	Fetal Kidney	kidney
7	chr2:167469800-167471600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:167470000-167471000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:167470200-167471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:167470200-167471000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:167470200-167471000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:167470200-167471400	Enhancers	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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