Variant report

Variant	rs1420731
Chromosome Location	chr12:12446675-12446676
allele	C/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:10)

rs_ID	r²[population]
rs10845520	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs10845522	0.80[ASN][1000 genomes]
rs11054772	0.80[ASN][1000 genomes]
rs11054776	0.80[ASN][1000 genomes]
rs12146805	0.80[ASN][1000 genomes]
rs1362651	1.00[JPT][hapmap]
rs4763796	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61922017	0.88[ASN][1000 genomes]
rs7302624	0.86[ASN][1000 genomes]
rs7959262	0.82[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:12437000-12447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12443400-12447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:12443400-12447400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12443600-12447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:12443600-12447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:12443800-12447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:12444600-12447000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:12446000-12446800	Active TSS	Liver	Liver
9	chr12:12446000-12448200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:12446200-12448200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:12446400-12446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:12446400-12447200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:12446600-12448200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:12446600-12449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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