Variant report

Variant	rs73406997
Chromosome Location	chr12:123396272-123396273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123386558..123390013-chr12:123395024..123397384,3	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs34010146	0.85[AMR][1000 genomes]
rs55646110	0.85[AMR][1000 genomes]
rs55796417	1.00[AMR][1000 genomes]
rs55813219	0.85[AMR][1000 genomes]
rs55830208	1.00[AMR][1000 genomes]
rs55939945	0.85[AMR][1000 genomes]
rs55951195	0.85[AMR][1000 genomes]
rs56000615	0.85[AMR][1000 genomes]
rs56020503	1.00[AMR][1000 genomes]
rs56150478	1.00[AMR][1000 genomes]
rs56288804	1.00[AMR][1000 genomes]
rs56725866	1.00[AMR][1000 genomes]
rs57110420	0.85[AMR][1000 genomes]
rs57258703	0.85[AMR][1000 genomes]
rs57863319	1.00[AMR][1000 genomes]
rs58025094	0.85[AMR][1000 genomes]
rs58462666	0.85[AMR][1000 genomes]
rs59081274	0.85[AMR][1000 genomes]
rs59211448	1.00[AMR][1000 genomes]
rs59379557	1.00[AMR][1000 genomes]
rs59526938	0.85[AMR][1000 genomes]
rs60341839	1.00[AMR][1000 genomes]
rs60739634	0.85[AMR][1000 genomes]
rs60809882	1.00[AMR][1000 genomes]
rs60888713	0.85[AMR][1000 genomes]
rs60901287	0.85[AMR][1000 genomes]
rs60920158	1.00[AMR][1000 genomes]
rs60987910	1.00[AMR][1000 genomes]
rs61061591	0.85[AMR][1000 genomes]
rs61377358	1.00[AMR][1000 genomes]
rs61516893	1.00[AMR][1000 genomes]
rs61546241	0.85[AMR][1000 genomes]
rs61592192	1.00[AMR][1000 genomes]
rs61677786	0.85[AMR][1000 genomes]
rs7295258	0.85[AMR][1000 genomes]
rs73406966	1.00[AMR][1000 genomes]
rs73408803	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408810	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408812	1.00[AMR][1000 genomes]
rs73408818	0.85[AMR][1000 genomes]
rs73408820	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408832	0.85[AMR][1000 genomes]
rs73408835	0.85[AMR][1000 genomes]
rs73408838	1.00[AMR][1000 genomes]
rs73408846	1.00[AMR][1000 genomes]
rs73408887	1.00[AMR][1000 genomes]
rs73408890	0.85[AMR][1000 genomes]
rs73408892	0.85[AMR][1000 genomes]
rs73408893	0.85[AMR][1000 genomes]
rs73408894	0.85[AMR][1000 genomes]
rs73408899	0.85[AMR][1000 genomes]
rs73411006	0.85[AMR][1000 genomes]
rs73411009	0.85[AMR][1000 genomes]
rs73411011	0.85[AMR][1000 genomes]
rs73411014	0.85[AMR][1000 genomes]
rs73411015	0.85[AMR][1000 genomes]
rs73411017	1.00[AMR][1000 genomes]
rs73411018	0.85[AMR][1000 genomes]
rs73411027	0.85[AMR][1000 genomes]
rs73411033	1.00[AMR][1000 genomes]
rs73411041	1.00[AMR][1000 genomes]
rs73411043	1.00[AMR][1000 genomes]
rs73411057	1.00[AMR][1000 genomes]
rs73411058	1.00[AMR][1000 genomes]
rs73411063	1.00[AMR][1000 genomes]
rs752164	1.00[AMR][1000 genomes]
rs7971535	0.85[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123388400-123401000	Weak transcription	A549	lung
2	chr12:123393200-123396800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:123395000-123396600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:123395000-123399800	Weak transcription	Placenta	Placenta
5	chr12:123395000-123400800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:123395000-123401000	Weak transcription	HMEC	breast
7	chr12:123395000-123401200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:123395000-123401200	Weak transcription	Spleen	Spleen
9	chr12:123395000-123401200	Weak transcription	HSMMtube	muscle
10	chr12:123395000-123401600	Weak transcription	Colonic Mucosa	Colon
11	chr12:123395000-123402000	Weak transcription	Right Ventricle	heart
12	chr12:123395000-123402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:123395000-123402400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:123395000-123408400	Weak transcription	Fetal Brain Female	brain
15	chr12:123395200-123401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:123395400-123396400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:123395400-123401200	Weak transcription	Left Ventricle	heart
18	chr12:123395600-123396400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:123395600-123396400	Weak transcription	Fetal Heart	heart
20	chr12:123395800-123396800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:123395800-123397200	Enhancers	Fetal Muscle Leg	muscle

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