Variant report

Variant	rs557968284
Chromosome Location	chr12:121364266-121364267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121362910..121365338-chr12:121366492..121368266,2	K562	blood:
2	chr12:121341649..121345411-chr12:121362011..121364307,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3421916	chr12:121364119-121367217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121362800-121364400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:121362800-121364400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:121362800-121364400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:121362800-121364400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121362800-121364400	Enhancers	Placenta	Placenta
6	chr12:121362800-121364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:121362800-121364600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121363000-121364400	Enhancers	Esophagus	oesophagus
9	chr12:121363000-121364400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:121363200-121364400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:121363200-121364400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:121363400-121364400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:121363400-121364400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:121363400-121364400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:121363400-121364400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:121363400-121364400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:121363400-121364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:121363400-121364400	Enhancers	HepG2	liver
19	chr12:121363600-121364400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:121363600-121364400	Flanking Active TSS	NHEK	skin
21	chr12:121363800-121364400	Flanking Active TSS	HMEC	breast
22	chr12:121364000-121364400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:121364000-121366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:121364200-121364400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:121364200-121364600	ZNF genes & repeats	Fetal Thymus	thymus
26	chr12:121364200-121366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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