Variant report

Variant	rs2970831
Chromosome Location	chr12:4561575-4561576
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12818485	1.00[ASN][1000 genomes]
rs12831479	1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970832	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970833	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35711623	1.00[ASN][1000 genomes]
rs35924298	1.00[ASN][1000 genomes]
rs71459907	1.00[ASN][1000 genomes]
rs71459908	1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[ASN][1000 genomes]
rs7302664	1.00[ASN][1000 genomes]
rs7955370	1.00[ASN][1000 genomes]
rs7962626	1.00[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr12:4558600-4562000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:4558800-4561600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:4560200-4561600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:4560200-4562000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:4560400-4562000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:4560400-4562000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:4560400-4562000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:4560600-4561600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:4560600-4561800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:4560600-4562000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:4560600-4562000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:4560600-4562000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:4561200-4561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:4561200-4563200	Weak transcription	hESC Derived CD56+ Ectoderm 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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