Variant report

Variant	rs73280629
Chromosome Location	chr12:40366187-40366188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1086490	0.93[EUR][1000 genomes]
rs10877837	0.86[EUR][1000 genomes]
rs10877867	0.84[ASN][1000 genomes]
rs11174427	0.86[EUR][1000 genomes]
rs11174533	0.83[EUR][1000 genomes]
rs11564221	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11564282	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12810368	0.95[ASN][1000 genomes]
rs12827948	0.95[ASN][1000 genomes]
rs28370607	0.86[EUR][1000 genomes]
rs28370611	0.86[EUR][1000 genomes]
rs7311756	0.89[ASN][1000 genomes]
rs992851	1.00[AMR][1000 genomes];0.99[EUR][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
2	chr12:40363000-40369800	Weak transcription	Psoas Muscle	Psoas
3	chr12:40364400-40391400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:40365400-40366400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:40365600-40366200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:40366000-40366200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40366000-40366400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:40366000-40366400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:40366000-40366400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:40366000-40366400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:40366000-40366400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:40366000-40366400	Enhancers	K562	blood
13	chr12:40366000-40366400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr12:40366000-40366400	Enhancers	NHDF-Ad	bronchial

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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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