Variant report

Variant	rs73408811
Chromosome Location	chr12:123398431-123398432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123378710..123380818-chr12:123397888..123402469,4	K562	blood:
2	chr12:123378710..123380705-chr12:123397888..123401064,3	K562	blood:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs57143069	1.00[AMR][1000 genomes]
rs57190557	1.00[AMR][1000 genomes]
rs57530745	1.00[AMR][1000 genomes]
rs58251569	1.00[AMR][1000 genomes]
rs58283587	1.00[AMR][1000 genomes]
rs58463629	1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59312127	1.00[AMR][1000 genomes]
rs60052793	1.00[AMR][1000 genomes]
rs60442043	1.00[AMR][1000 genomes]
rs60543890	1.00[AMR][1000 genomes]
rs60726563	1.00[AMR][1000 genomes]
rs61685353	1.00[AMR][1000 genomes]
rs73408808	1.00[AMR][1000 genomes]
rs73408817	1.00[AMR][1000 genomes]
rs73408823	1.00[AMR][1000 genomes]
rs73408840	1.00[AMR][1000 genomes]
rs73408867	1.00[AMR][1000 genomes]
rs73408884	1.00[AMR][1000 genomes]
rs73408885	1.00[AMR][1000 genomes]
rs73408886	1.00[AMR][1000 genomes]
rs73408898	1.00[AMR][1000 genomes]
rs73411020	1.00[AMR][1000 genomes]
rs73411029	1.00[AMR][1000 genomes]
rs73411039	1.00[AMR][1000 genomes]
rs73411044	1.00[AMR][1000 genomes]
rs73411046	1.00[AMR][1000 genomes]
rs73411050	1.00[AMR][1000 genomes]
rs73411070	1.00[AMR][1000 genomes]
rs73411082	1.00[AMR][1000 genomes]
rs73411085	1.00[AMR][1000 genomes]
rs73411096	1.00[AMR][1000 genomes]
rs73411101	1.00[AMR][1000 genomes]
rs73413207	1.00[AMR][1000 genomes]
rs73413234	1.00[AMR][1000 genomes]
rs73413271	1.00[AMR][1000 genomes]
rs73413279	1.00[AMR][1000 genomes]
rs73413285	1.00[AMR][1000 genomes]
rs73417309	1.00[AMR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123388400-123401000	Weak transcription	A549	lung
2	chr12:123395000-123399800	Weak transcription	Placenta	Placenta
3	chr12:123395000-123400800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:123395000-123401000	Weak transcription	HMEC	breast
5	chr12:123395000-123401200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:123395000-123401200	Weak transcription	Spleen	Spleen
7	chr12:123395000-123401200	Weak transcription	HSMMtube	muscle
8	chr12:123395000-123401600	Weak transcription	Colonic Mucosa	Colon
9	chr12:123395000-123402000	Weak transcription	Right Ventricle	heart
10	chr12:123395000-123402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:123395000-123402400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
13	chr12:123395200-123401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:123395400-123401200	Weak transcription	Left Ventricle	heart
15	chr12:123396800-123401800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:123396800-123401800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:123396800-123401800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:123397200-123401200	Weak transcription	Fetal Heart	heart
19	chr12:123397200-123402000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:123398200-123402000	Weak transcription	Right Atrium	heart

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