Variant report

Variant	rs2372270
Chromosome Location	chr3:42929776-42929777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11129987	0.82[EUR][1000 genomes]
rs11129988	0.82[EUR][1000 genomes]
rs1346414	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1346415	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs526511	0.80[EUR][1000 genomes]
rs638602	0.80[EUR][1000 genomes]
rs6767562	0.82[ASN][1000 genomes]
rs6769764	0.86[ASN][1000 genomes]
rs834183	0.80[EUR][1000 genomes]
rs834579	0.82[EUR][1000 genomes]
rs834584	0.80[EUR][1000 genomes]
rs834699	0.80[EUR][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	nsv3783	chr3:42926223-42970597	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv965159	chr3:42927472-42932027	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 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	chr3:42924000-42935800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:42926400-42931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:42926400-42933000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:42927600-42933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:42928000-42930200	Enhancers	Stomach Mucosa	stomach
6	chr3:42928200-42931000	Strong transcription	Placenta	Placenta
7	chr3:42928200-42931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:42928400-42933200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:42928600-42931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:42928600-42931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:42929000-42931800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:42929000-42931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:42929000-42937200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:42929400-42930400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:42929400-42932000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:42929400-42932200	Weak transcription	Fetal Intestine Small	intestine

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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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