Variant report

Variant	rs57481021
Chromosome Location	chr12:66794446-66794447
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66787772..66790243-chr12:66792913..66794848,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12299022	1.00[AMR][1000 genomes]
rs12310745	1.00[AMR][1000 genomes]
rs73327347	1.00[AMR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:66782800-66812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66784200-66796000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:66786200-66801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:66786200-66801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:66786400-66801200	Weak transcription	Placenta	Placenta
6	chr12:66786600-66803000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:66791000-66794800	Enhancers	Fetal Brain Male	brain
8	chr12:66792000-66798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:66792000-66799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:66792800-66794600	Enhancers	Colon Smooth Muscle	Colon
11	chr12:66793000-66801800	Weak transcription	Spleen	Spleen
12	chr12:66793200-66796400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:66793200-66797600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:66793200-66798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:66793400-66797600	Weak transcription	Brain Germinal Matrix	brain
16	chr12:66793600-66796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:66793800-66794600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:66794000-66794800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:66794000-66794800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:66794000-66794800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:66794000-66794800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:66794000-66794800	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:66794000-66795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:66794000-66801200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:66794200-66802800	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:66794400-66796000	Weak transcription	Fetal Brain Female	brain

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