Variant report

Variant	rs12473654
Chromosome Location	chr2:168278860-168278861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2390557	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617367	0.80[AFR][1000 genomes]
rs2617392	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689834	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728884	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2760556	chr2:168259049-168283244	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168273200-168279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:168275800-168279400	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:168277000-168279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:168277200-168279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:168277800-168279000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:168278000-168279200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:168278000-168292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:168278200-168279000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168278200-168279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:168278200-168279400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:168278400-168279000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:168278600-168280800	Enhancers	Colon Smooth Muscle	Colon
13	chr2:168278600-168283000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:168278800-168279200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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