Variant report

Variant	rs7310379
Chromosome Location	chr12:8957812-8957813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2098245	1.00[EUR][1000 genomes]
rs56251122	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56364594	0.89[ASN][1000 genomes]
rs56674087	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57278927	0.85[ASN][1000 genomes]
rs57687298	0.89[ASN][1000 genomes]
rs57859500	0.89[ASN][1000 genomes]
rs58366267	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58378714	0.89[ASN][1000 genomes]
rs59174562	0.89[ASN][1000 genomes]
rs59319330	0.89[ASN][1000 genomes]
rs59432313	0.89[ASN][1000 genomes]
rs61055239	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7299831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301848	0.89[ASN][1000 genomes]
rs7310498	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311024	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061821	0.93[ASN][1000 genomes]
rs9739033	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34096	chr12:8927520-8968810	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3411524	chr12:8957209-8964599	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
3	esv3379065	chr12:8957268-8965075	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8945200-8958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:8947600-8961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:8947800-8958200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:8949000-8962600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8950000-8958200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:8950000-8958800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:8955800-8958200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:8956400-8958200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:8956800-8959800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:8957000-8963000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:8957600-8958400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:8957600-8958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:8957600-8961200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:8957800-8962400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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