Variant report

Variant	rs75329701
Chromosome Location	chr12:66792850-66792851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66531464..66533263-chr12:66791521..66794066,2	K562	blood:
2	chr12:66791504..66793937-chr12:66803050..66804575,2	MCF-7	breast:
3	chr12:66774160..66776301-chr12:66791515..66793936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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
6	esv3488374	chr12:66791844-66794236	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv3488363	chr12:66791887-66794216	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3488352	chr12:66791915-66794170	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3488385	chr12:66791975-66794139	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv15434	chr12:66791981-66794122	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66775200-66793000	Weak transcription	Esophagus	oesophagus
2	chr12:66782800-66812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:66784200-66796000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:66786200-66801000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:66786200-66801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:66786400-66801200	Weak transcription	Placenta	Placenta
7	chr12:66786600-66803000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:66789200-66794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:66791000-66794800	Enhancers	Fetal Brain Male	brain
10	chr12:66791600-66793600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:66791800-66793200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:66791800-66793800	Enhancers	Fetal Brain Female	brain
13	chr12:66792000-66793200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:66792000-66798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:66792000-66799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:66792600-66793000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:66792600-66793000	Enhancers	HSMM	muscle
18	chr12:66792600-66793400	Enhancers	Brain Germinal Matrix	brain
19	chr12:66792600-66794200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:66792800-66793000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
21	chr12:66792800-66793000	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:66792800-66793000	Enhancers	Spleen	Spleen
23	chr12:66792800-66793200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:66792800-66793200	Enhancers	Brain Anterior Caudate	brain
25	chr12:66792800-66793200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr12:66792800-66793600	Enhancers	Adipose Nuclei	Adipose
27	chr12:66792800-66793800	Enhancers	Fetal Kidney	kidney
28	chr12:66792800-66794000	Enhancers	Fetal Heart	heart
29	chr12:66792800-66794200	Enhancers	Right Atrium	heart
30	chr12:66792800-66794400	Enhancers	Fetal Stomach	stomach
31	chr12:66792800-66794400	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:66792800-66794600	Enhancers	Colon Smooth Muscle	Colon

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