Variant report

Variant	rs56072019
Chromosome Location	chr12:122595618-122595619
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122500930..122505291-chr12:122595223..122597290,4	MCF-7	breast:
2	chr12:122514781..122518776-chr12:122593485..122598871,7	MCF-7	breast:
3	chr12:122467922..122470622-chr12:122594628..122596411,2	MCF-7	breast:
4	chr12:122591520..122593540-chr12:122594262..122596190,2	K562	blood:
5	chr12:122594427..122596064-chr12:122601352..122602950,2	K562	blood:
6	chr12:122595198..122597240-chr12:122599458..122602130,3	MCF-7	breast:
7	chr12:122593313..122595927-chr12:122601450..122604271,2	K562	blood:
8	chr12:122515231..122521385-chr12:122592674..122599384,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10773037	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057184	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057654	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11059094	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11060477	0.82[EUR][1000 genomes]
rs11061156	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11608788	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11608792	0.82[EUR][1000 genomes]
rs11609875	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12366611	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28385906	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28401575	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28410367	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28414202	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28421373	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28430881	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28450064	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28453771	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28461580	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28464252	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28478366	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28478717	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28498002	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28498376	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28503672	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28506952	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28517281	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28529535	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28545660	0.82[EUR][1000 genomes]
rs28548845	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28569273	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28580546	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28585613	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28591322	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28605425	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28607028	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28613772	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28626850	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28631172	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28639626	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28642975	0.80[ASN][1000 genomes]
rs28649184	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28652632	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28683032	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28699616	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28737311	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28739522	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34123446	0.80[EUR][1000 genomes]
rs35676267	0.80[EUR][1000 genomes]
rs61952922	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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 target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122584800-122601200	Weak transcription	Dnd41	blood
5	chr12:122585000-122595800	Weak transcription	Fetal Kidney	kidney
6	chr12:122585400-122601400	Weak transcription	Brain Germinal Matrix	brain
7	chr12:122587400-122598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122588400-122596800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:122591000-122601800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:122591200-122600600	Weak transcription	Thymus	Thymus
12	chr12:122591200-122601400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:122591200-122601400	Weak transcription	Esophagus	oesophagus
14	chr12:122591200-122602800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:122591400-122598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:122592000-122597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:122592000-122601200	Weak transcription	Fetal Lung	lung
18	chr12:122592200-122595800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:122592200-122596000	Weak transcription	Liver	Liver
20	chr12:122592200-122598200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:122592200-122601000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:122592400-122595800	Enhancers	Hela-S3	cervix
24	chr12:122592400-122599000	Weak transcription	Right Atrium	heart
25	chr12:122592400-122600600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:122592400-122600600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:122592400-122601000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:122592400-122601000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:122592400-122601000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:122592400-122601200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:122592600-122597800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:122592600-122600600	Weak transcription	Gastric	stomach
33	chr12:122592600-122601000	Weak transcription	Right Ventricle	heart
34	chr12:122592800-122597800	Weak transcription	Fetal Stomach	stomach
35	chr12:122592800-122601200	Weak transcription	Lung	lung
36	chr12:122592800-122601600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:122593000-122596000	Weak transcription	Fetal Thymus	thymus
38	chr12:122593200-122595800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:122593200-122601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:122593200-122601200	Weak transcription	Ovary	ovary
41	chr12:122593400-122595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:122593400-122597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:122593400-122597800	Weak transcription	NH-A	brain
44	chr12:122593400-122598200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:122593400-122598800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:122593400-122598800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122593400-122598800	Weak transcription	HepG2	liver
48	chr12:122593400-122598800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:122593400-122601200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:122593400-122601200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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