Variant report

Variant	rs55830208
Chromosome Location	chr12:123514267-123514268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123509701..123511806-chr12:123511971..123514451,2	MCF-7	breast:
2	chr12:123505890..123509531-chr12:123511105..123514419,3	K562	blood:
3	chr12:123504473..123507660-chr12:123511654..123514419,3	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs11061578	1.00[AFR][1000 genomes]
rs34010146	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55646110	0.85[AMR][1000 genomes]
rs55796417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55813219	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55939945	0.85[AMR][1000 genomes]
rs55951195	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55992397	0.89[AFR][1000 genomes]
rs56000615	0.85[AMR][1000 genomes]
rs56020503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56140750	0.97[AFR][1000 genomes]
rs56150478	1.00[AMR][1000 genomes]
rs56288804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56725866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57106451	1.00[AFR][1000 genomes]
rs57110420	0.85[AMR][1000 genomes]
rs57178349	0.91[AFR][1000 genomes]
rs57258703	0.85[AMR][1000 genomes]
rs57641050	1.00[AFR][1000 genomes]
rs57764857	1.00[AFR][1000 genomes]
rs57794792	1.00[AFR][1000 genomes]
rs57863319	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025094	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58462666	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59081274	0.85[AMR][1000 genomes]
rs59211448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59379557	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59526938	0.85[AMR][1000 genomes]
rs59615440	0.90[AFR][1000 genomes]
rs60341839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341983	0.97[AFR][1000 genomes]
rs60358140	1.00[AFR][1000 genomes]
rs60546720	0.89[AFR][1000 genomes]
rs60739634	0.85[AMR][1000 genomes]
rs60761837	0.83[AFR][1000 genomes]
rs60809882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60888713	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60901287	0.85[AMR][1000 genomes]
rs60920158	1.00[AMR][1000 genomes]
rs60987910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61061591	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61377358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61516893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61546241	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61592192	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61677786	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7295258	0.85[AMR][1000 genomes]
rs73406966	1.00[AMR][1000 genomes]
rs73406997	1.00[AMR][1000 genomes]
rs73408803	1.00[AMR][1000 genomes]
rs73408810	1.00[AMR][1000 genomes]
rs73408812	1.00[AMR][1000 genomes]
rs73408818	0.85[AMR][1000 genomes]
rs73408820	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	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408892	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408893	0.85[AMR][1000 genomes]
rs73408894	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73408899	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411006	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411009	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411011	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411014	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411015	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411017	1.00[AMR][1000 genomes]
rs73411018	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411027	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411043	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411076	1.00[AFR][1000 genomes]
rs73411084	0.90[AFR][1000 genomes]
rs73411087	0.97[AFR][1000 genomes]
rs73411088	0.87[AFR][1000 genomes]
rs73411090	0.91[AFR][1000 genomes]
rs73411093	0.90[AFR][1000 genomes]
rs73411098	0.83[AFR][1000 genomes]
rs73413226	0.91[AFR][1000 genomes]
rs73413228	0.91[AFR][1000 genomes]
rs73413230	0.91[AFR][1000 genomes]
rs73413236	0.89[AFR][1000 genomes]
rs73413241	0.91[AFR][1000 genomes]
rs73413246	0.91[AFR][1000 genomes]
rs73413265	0.81[AFR][1000 genomes]
rs752164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7952760	0.97[AFR][1000 genomes]
rs7964036	0.91[AFR][1000 genomes]
rs7971535	0.85[AMR][1000 genomes]

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	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	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
3	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
4	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
5	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
6	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
7	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
8	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
3	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:123492600-123515800	Weak transcription	Fetal Brain Male	brain
8	chr12:123493600-123517600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:123494400-123517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:123494800-123517000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:123496600-123517600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:123497200-123517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:123497200-123517600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:123497400-123528600	Weak transcription	Ovary	ovary
17	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:123498600-123516000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:123502200-123519200	Weak transcription	HSMMtube	muscle
20	chr12:123504000-123516000	Weak transcription	NHEK	skin
21	chr12:123504200-123519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:123504200-123528000	Weak transcription	HMEC	breast
23	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
24	chr12:123504600-123515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:123504600-123515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
27	chr12:123507800-123517400	Weak transcription	K562	blood
28	chr12:123508200-123517400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:123509600-123517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123509800-123515400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:123509800-123515600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:123509800-123515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:123509800-123516000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:123509800-123516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:123509800-123516200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:123509800-123518000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:123509800-123518000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr12:123509800-123518600	Weak transcription	NHDF-Ad	bronchial
39	chr12:123509800-123519000	Weak transcription	A549	lung
40	chr12:123509800-123519200	Weak transcription	HSMM	muscle
41	chr12:123509800-123519200	Weak transcription	Osteobl	bone
42	chr12:123509800-123525600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:123509800-123530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:123510000-123516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:123510000-123517800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:123510000-123518000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:123510000-123518200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:123510000-123518600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:123510200-123519600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:123510400-123517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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