Variant report

Variant	rs12579722
Chromosome Location	chr12:118563202-118563203
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	chr12:118557350..118559971-chr12:118562643..118564283,2	MCF-7	breast:
2	chr12:118562530..118565335-chr12:118572091..118573836,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1051077	0.88[EUR][1000 genomes]
rs16939761	0.89[EUR][1000 genomes]
rs4505100	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:118545400-118569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:118546400-118569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:118548600-118563400	Weak transcription	Left Ventricle	heart
8	chr12:118552800-118572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
10	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
11	chr12:118554400-118566000	Weak transcription	Small Intestine	intestine
12	chr12:118554800-118564000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:118557800-118564000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:118558200-118564000	Enhancers	HepG2	liver
15	chr12:118558800-118564000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:118558800-118572800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:118559000-118565600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:118559000-118569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:118559200-118564000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:118559200-118564000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:118559200-118566600	Weak transcription	Fetal Lung	lung
22	chr12:118559200-118567200	Weak transcription	Brain Angular Gyrus	brain
23	chr12:118559200-118569400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:118559200-118569400	Weak transcription	Dnd41	blood
25	chr12:118559200-118569600	Weak transcription	GM12878-XiMat	blood
26	chr12:118559200-118569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:118559200-118570000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:118559200-118572600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:118559200-118572600	Weak transcription	NHEK	skin
30	chr12:118559200-118572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:118559200-118573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:118559200-118573000	Weak transcription	Fetal Kidney	kidney
33	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
35	chr12:118559400-118564000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:118559400-118564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:118559400-118567400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:118559400-118569200	Weak transcription	Brain Substantia Nigra	brain
39	chr12:118559400-118569200	Weak transcription	A549	lung
40	chr12:118559400-118569400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:118559400-118569400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:118559400-118569800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:118559400-118572600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:118559400-118572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:118559800-118564000	Weak transcription	Ovary	ovary
46	chr12:118559800-118565200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:118559800-118567400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:118560800-118564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:118560800-118572800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:118561400-118565600	Enhancers	Stomach Mucosa	stomach

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