Variant report

Variant	rs531904165
Chromosome Location	chr12:66793474-66793475
allele	G/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:
4	chr12:66787772..66790243-chr12:66792913..66794848,2	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:29 , 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	chr12:66789200-66794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:66791000-66794800	Enhancers	Fetal Brain Male	brain
9	chr12:66791600-66793600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:66791800-66793800	Enhancers	Fetal Brain Female	brain
11	chr12:66792000-66798600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:66792000-66799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:66792600-66794200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr12:66792800-66793600	Enhancers	Adipose Nuclei	Adipose
15	chr12:66792800-66793800	Enhancers	Fetal Kidney	kidney
16	chr12:66792800-66794000	Enhancers	Fetal Heart	heart
17	chr12:66792800-66794200	Enhancers	Right Atrium	heart
18	chr12:66792800-66794400	Enhancers	Fetal Stomach	stomach
19	chr12:66792800-66794400	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:66792800-66794600	Enhancers	Colon Smooth Muscle	Colon
21	chr12:66793000-66793600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:66793000-66794200	Enhancers	Fetal Muscle Leg	muscle
23	chr12:66793000-66801800	Weak transcription	Spleen	Spleen
24	chr12:66793200-66796400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:66793200-66797600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:66793200-66798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:66793400-66793600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:66793400-66793600	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr12:66793400-66797600	Weak transcription	Brain Germinal Matrix	brain

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