Variant report

Variant	rs11060556
Chromosome Location	chr12:122682286-122682287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:122681976-122682503	K562	blood:	n/a	n/a
2	JUND	chr12:122682170-122682460	K562	blood:	n/a	n/a
3	RCOR1	chr12:122682097-122682383	K562	blood:	n/a	n/a
4	JUN	chr12:122681895-122683034	K562	blood:	n/a	n/a
5	MEF2A	chr12:122682119-122682462	K562	blood:	n/a	n/a
6	MAX	chr12:122682272-122682334	K562	blood:	n/a	n/a
7	TBL1XR1	chr12:122682077-122682363	K562	blood:	n/a	n/a
8	KAP1	chr12:122682127-122682383	U2OS	brain:	n/a	n/a
9	NR2F2	chr12:122681880-122682551	K562	blood:	n/a	n/a
10	POLR2A	chr12:122681325-122683120	K562	blood:	n/a	n/a
11	POLR2A	chr12:122681280-122682437	K562	blood:	n/a	n/a
12	CUX1	chr12:122682275-122682422	K562	blood:	n/a	n/a
13	POLR2A	chr12:122681350-122682457	K562	blood:	n/a	n/a
14	HEY1	chr12:122681298-122682300	K562	blood:	n/a	n/a
15	MEF2A	chr12:122682042-122682463	K562	blood:	n/a	n/a
16	BHLHE40	chr12:122682138-122682345	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122682172..122684559-chr12:122709010..122710675,2	K562	blood:
2	chr12:122675858..122677484-chr12:122679022..122682895,3	K562	blood:
3	chr12:122466217..122468196-chr12:122682024..122683556,2	K562	blood:
4	chr12:122680171..122683089-chr12:122686564..122689118,2	MCF-7	breast:
5	chr12:122680624..122683672-chr12:122709157..122710675,3	K562	blood:
6	chr12:122501554..122504521-chr12:122680096..122682442,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
LRRC43	TF binding region
ENSG00000256546	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10847803	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11060094	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67032306	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67189233	0.81[AMR][1000 genomes];0.86[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	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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122670000-122683600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:122674800-122685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122677800-122687400	Weak transcription	Right Atrium	heart
4	chr12:122680600-122682400	Flanking Active TSS	K562	blood
5	chr12:122681400-122682400	Bivalent Enhancer	HepG2	liver
6	chr12:122681600-122683400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122681800-122682800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:122681800-122684600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:122682000-122682400	Flanking Active TSS	Osteobl	bone
10	chr12:122682000-122682800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:122682200-122682400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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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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