Variant report

Variant	rs12474103
Chromosome Location	chr2:172125036-172125037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490605	0.94[ASN][1000 genomes]
rs10754977	0.98[ASN][1000 genomes]
rs10803858	0.98[ASN][1000 genomes]
rs10803859	0.94[ASN][1000 genomes]
rs10930464	0.98[ASN][1000 genomes]
rs11903215	0.94[ASN][1000 genomes]
rs13007471	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34931272	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717184	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727785	0.94[ASN][1000 genomes]
rs6743965	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172118800-172127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:172119000-172128200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:172119600-172127600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:172123600-172125200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:172124000-172125200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:172124000-172125400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:172124200-172125200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172124200-172125200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:172124400-172125200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172124400-172125200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:172124600-172125400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:172124800-172125400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:172125000-172127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:172125000-172127600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:172125000-172127800	Weak transcription	NHDF-Ad	bronchial

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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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