Variant report

Variant	rs73321649
Chromosome Location	chr12:66589461-66589462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66563078..66564733-chr12:66588492..66590792,2	MCF-7	breast:
2	chr12:66583600..66585977-chr12:66589320..66590902,2	MCF-7	breast:
3	chr12:66562116..66564861-chr12:66589137..66592515,4	MCF-7	breast:
4	chr12:66588124..66590296-chr12:66590579..66593345,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12580553	1.00[EUR][1000 genomes]
rs58117458	1.00[AMR][1000 genomes]
rs58801573	1.00[AMR][1000 genomes]
rs60418150	1.00[EUR][1000 genomes]
rs60452056	1.00[EUR][1000 genomes]
rs61293788	1.00[AMR][1000 genomes]
rs7135849	1.00[EUR][1000 genomes]
rs7311517	1.00[AMR][1000 genomes]
rs73314145	1.00[AMR][1000 genomes]
rs73314150	1.00[AMR][1000 genomes]
rs73314153	1.00[AMR][1000 genomes]
rs73314160	1.00[AMR][1000 genomes]
rs73315987	1.00[AMR][1000 genomes]
rs73317705	1.00[AMR][1000 genomes]
rs74100138	1.00[EUR][1000 genomes]

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	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	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583600-66591400	Weak transcription	Osteobl	bone
2	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
3	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:66585000-66590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:66585000-66591000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:66585000-66591400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:66585600-66590400	Weak transcription	Esophagus	oesophagus
8	chr12:66585600-66590800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:66585600-66592000	Weak transcription	Right Atrium	heart
10	chr12:66585800-66590200	Weak transcription	Fetal Kidney	kidney
11	chr12:66586000-66589600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:66587200-66590400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:66587400-66591800	Enhancers	Primary B cells from cord blood	blood
14	chr12:66588000-66590000	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:66588600-66590200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
16	chr12:66588800-66589600	Enhancers	Spleen	Spleen
17	chr12:66588800-66590400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:66588800-66591400	Enhancers	Stomach Mucosa	stomach
19	chr12:66589000-66590200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:66589200-66589600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:66589200-66589800	Enhancers	Lung	lung
22	chr12:66589200-66591400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:66589400-66589600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:66589400-66589800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:66589400-66589800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:66589400-66589800	Weak transcription	HUVEC	blood vessel
27	chr12:66589400-66590000	Weak transcription	Fetal Lung	lung
28	chr12:66589400-66590200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:66589400-66590200	Enhancers	GM12878-XiMat	blood
30	chr12:66589400-66590600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:66589400-66591400	Weak transcription	Right Ventricle	heart
32	chr12:66589400-66591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:66589400-66593200	Weak transcription	Left Ventricle	heart
34	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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