Variant report

Variant	rs61126567
Chromosome Location	chr12:122639798-122639799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11834748	1.00[ASN][1000 genomes]
rs11837919	1.00[ASN][1000 genomes]
rs12099705	1.00[ASN][1000 genomes]
rs12579871	1.00[ASN][1000 genomes]
rs12581610	1.00[ASN][1000 genomes]
rs56719421	1.00[ASN][1000 genomes]
rs56785986	1.00[ASN][1000 genomes]
rs57141433	1.00[ASN][1000 genomes]
rs57302703	1.00[ASN][1000 genomes]
rs58270183	1.00[ASN][1000 genomes]
rs59731700	1.00[ASN][1000 genomes]
rs7315448	1.00[ASN][1000 genomes]
rs73419720	0.84[EUR][1000 genomes]
rs7968315	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv21424	chr12:122634975-122649886	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
3	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
7	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:122636800-122640400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:122636800-122644200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:122636800-122644800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:122637800-122640000	Weak transcription	K562	blood
13	chr12:122639200-122643400	Weak transcription	H1 BMP4 Derived Mesendoderm 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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