Variant report

Variant	rs701484
Chromosome Location	chr12:123263329-123263330
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	chr12:123258957..123263504-chr12:123263837..123267205,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130783	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466883	0.88[ASN][1000 genomes]
rs10466884	0.89[ASN][1000 genomes]
rs11059711	0.89[ASN][1000 genomes]
rs11059724	0.94[ASN][1000 genomes]
rs11059834	0.90[ASN][1000 genomes]
rs11059932	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11059953	0.90[ASN][1000 genomes]
rs11059954	0.89[ASN][1000 genomes]
rs12302287	0.90[ASN][1000 genomes]
rs12303150	0.88[ASN][1000 genomes]
rs12303270	0.90[ASN][1000 genomes]
rs12303951	0.87[ASN][1000 genomes]
rs12305822	0.87[ASN][1000 genomes]
rs12307038	0.90[ASN][1000 genomes]
rs12310386	0.89[ASN][1000 genomes]
rs12310901	0.90[ASN][1000 genomes]
rs12312837	0.90[ASN][1000 genomes]
rs12316263	0.89[ASN][1000 genomes]
rs12319160	0.87[ASN][1000 genomes]
rs12321100	0.86[ASN][1000 genomes]
rs12321556	0.89[ASN][1000 genomes]
rs1260120	0.96[ASN][1000 genomes]
rs1671679	0.89[ASN][1000 genomes]
rs1671688	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1696320	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2253504	0.93[ASN][1000 genomes]
rs2649902	0.94[ASN][1000 genomes]
rs2936730	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817095	0.89[ASN][1000 genomes]
rs57366988	0.89[ASN][1000 genomes]
rs60469279	0.89[ASN][1000 genomes]
rs61176973	0.90[ASN][1000 genomes]
rs6489240	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652533	0.93[ASN][1000 genomes]
rs7138436	0.92[ASN][1000 genomes]
rs7311386	0.89[ASN][1000 genomes]
rs7486414	0.89[ASN][1000 genomes]
rs7966971	0.87[ASN][1000 genomes]
rs839363	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9645762	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123253600-123265200	Weak transcription	K562	blood
2	chr12:123259400-123265000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123259400-123266600	Weak transcription	Spleen	Spleen
4	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
5	chr12:123259800-123266200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:123259800-123285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:123260000-123263400	Weak transcription	Thymus	Thymus
9	chr12:123260000-123263800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:123260000-123264200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:123260000-123265400	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:123260000-123265600	Weak transcription	Right Ventricle	heart
13	chr12:123260000-123267200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:123260000-123267200	Weak transcription	Fetal Brain Male	brain
15	chr12:123260000-123268000	Weak transcription	Ovary	ovary
16	chr12:123260000-123268400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:123260000-123272600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:123260000-123272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:123260000-123275200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:123260000-123278400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:123260000-123278400	Weak transcription	Brain Angular Gyrus	brain
22	chr12:123260000-123278400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:123260000-123278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:123260200-123264200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123260200-123264200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:123260200-123264200	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:123260200-123265400	Weak transcription	NHLF	lung
29	chr12:123260200-123265600	Weak transcription	Fetal Brain Female	brain
30	chr12:123260200-123266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:123260200-123266600	Weak transcription	Adipose Nuclei	Adipose
32	chr12:123260200-123268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:123260200-123268600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:123260200-123270400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:123260200-123272400	Weak transcription	HMEC	breast
36	chr12:123260200-123272400	Weak transcription	NHEK	skin
37	chr12:123260200-123272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:123260200-123272800	Weak transcription	Left Ventricle	heart
39	chr12:123260200-123272800	Weak transcription	Osteobl	bone
40	chr12:123260200-123273000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:123260200-123273000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:123260200-123273000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:123260200-123273000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:123260200-123275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:123260200-123278000	Weak transcription	Fetal Thymus	thymus
46	chr12:123260200-123284000	Weak transcription	Primary B cells from cord blood	blood
47	chr12:123260200-123284000	Weak transcription	Primary T cells from cord blood	blood
48	chr12:123260400-123264400	Weak transcription	Pancreas	Pancrea
49	chr12:123260400-123270400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:123261600-123264200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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