Variant report

Variant	rs56000615
Chromosome Location	chr12:123511783-123511784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123506503..123509375-chr12:123511133..123513155,2	MCF-7	breast:
2	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
3	chr12:123505890..123509531-chr12:123511105..123514419,3	K562	blood:
4	chr12:123509265..123512010-chr12:123514339..123516873,4	MCF-7	breast:
5	chr12:123482581..123485008-chr12:123511167..123512843,2	K562	blood:
6	chr12:123509701..123511806-chr12:123511971..123514451,2	MCF-7	breast:
7	chr12:123504473..123507660-chr12:123511654..123514419,3	K562	blood:

No data

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55796417	0.85[AMR][1000 genomes]
rs55830208	0.85[AMR][1000 genomes]
rs56020503	0.85[AMR][1000 genomes]
rs56150478	0.85[AMR][1000 genomes]
rs56288804	0.85[AMR][1000 genomes]
rs56725866	0.85[AMR][1000 genomes]
rs57863319	0.85[AMR][1000 genomes]
rs59211448	0.85[AMR][1000 genomes]
rs59379557	0.85[AMR][1000 genomes]
rs60341839	0.85[AMR][1000 genomes]
rs60809882	0.85[AMR][1000 genomes]
rs60920158	0.85[AMR][1000 genomes]
rs60987910	0.85[AMR][1000 genomes]
rs61377358	0.85[AMR][1000 genomes]
rs61516893	0.85[AMR][1000 genomes]
rs61592192	0.85[AMR][1000 genomes]
rs73406966	0.85[AMR][1000 genomes]
rs73406997	0.85[AMR][1000 genomes]
rs73408803	0.85[AMR][1000 genomes]
rs73408810	0.85[AMR][1000 genomes]
rs73408812	0.85[AMR][1000 genomes]
rs73408838	0.85[AMR][1000 genomes]
rs73408846	0.85[AMR][1000 genomes]
rs73408887	0.85[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411033	0.85[AMR][1000 genomes]
rs73411041	0.85[AMR][1000 genomes]
rs73411043	0.85[AMR][1000 genomes]
rs73411057	0.85[AMR][1000 genomes]
rs73411058	0.85[AMR][1000 genomes]
rs73411063	0.85[AMR][1000 genomes]
rs752164	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
4	chr12:123489200-123512400	Weak transcription	Aorta	Aorta
5	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:123492600-123515800	Weak transcription	Fetal Brain Male	brain
10	chr12:123493600-123517600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:123494400-123511800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:123494400-123517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:123494800-123517000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:123495000-123514000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:123495200-123512800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:123496600-123517600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:123497200-123517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:123497200-123517600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:123497400-123528600	Weak transcription	Ovary	ovary
22	chr12:123497800-123511800	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:123498400-123511800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:123498400-123512000	Weak transcription	Left Ventricle	heart
26	chr12:123498600-123512400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:123498600-123513400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:123498600-123516000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:123501000-123513400	Strong transcription	Thymus	Thymus
30	chr12:123502200-123519200	Weak transcription	HSMMtube	muscle
31	chr12:123504000-123516000	Weak transcription	NHEK	skin
32	chr12:123504200-123519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:123504200-123528000	Weak transcription	HMEC	breast
34	chr12:123504400-123511800	Weak transcription	Placenta	Placenta
35	chr12:123504400-123514200	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
37	chr12:123504600-123512800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:123504600-123515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:123504600-123515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:123506400-123512800	Weak transcription	Fetal Intestine Large	intestine
41	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
42	chr12:123507800-123517400	Weak transcription	K562	blood
43	chr12:123508200-123517400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:123509600-123517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:123509800-123515400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:123509800-123515600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:123509800-123515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:123509800-123516000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:123509800-123516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:123509800-123516200	Weak transcription	Duodenum Mucosa	Duodenum

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