Variant report

Variant	rs11615467
Chromosome Location	chr12:56077740-56077741
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	chr12:56076695..56079259-chr12:56122549..56124270,2	MCF-7	breast:
2	chr12:56063866..56065667-chr12:56076711..56079244,2	K562	blood:

Variant related genes	Relation type
ENSG00000135404	Chromatin interaction
ENSG00000258056	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11613875	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17117860	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17117883	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17117895	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60169753	0.87[EUR][1000 genomes]
rs73119213	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56075600-56081600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:56075800-56078000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:56075800-56079600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:56075800-56079800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:56075800-56081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56075800-56081400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:56075800-56081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56075800-56100200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:56076000-56078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:56076000-56078400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:56076000-56078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:56076000-56078600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:56076000-56078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:56076000-56078800	Weak transcription	Aorta	Aorta
15	chr12:56076000-56078800	Weak transcription	NHLF	lung
16	chr12:56076000-56079600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:56076000-56080400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:56076000-56080800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:56076000-56087400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:56076000-56097600	Weak transcription	Gastric	stomach
21	chr12:56076000-56100200	Weak transcription	Ovary	ovary
22	chr12:56076200-56077800	Active TSS	Right Atrium	heart
23	chr12:56076200-56078000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:56076200-56078200	Weak transcription	GM12878-XiMat	blood
25	chr12:56076200-56078400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:56076200-56078600	Active TSS	Right Ventricle	heart
27	chr12:56076200-56078800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:56076200-56079200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:56076200-56079200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:56076200-56080200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:56076200-56081400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:56076200-56081600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:56076200-56085600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:56076200-56086200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:56076200-56086400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:56076200-56086400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:56076200-56086800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:56076400-56078600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:56076400-56078800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:56076400-56079000	Weak transcription	NHDF-Ad	bronchial
41	chr12:56076400-56079600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:56076400-56079600	Weak transcription	Pancreas	Pancrea
43	chr12:56076400-56080200	Weak transcription	Brain Anterior Caudate	brain
44	chr12:56076400-56080400	Weak transcription	Brain Substantia Nigra	brain
45	chr12:56076400-56098400	Weak transcription	Fetal Brain Female	brain
46	chr12:56076800-56093200	Weak transcription	Fetal Heart	heart
47	chr12:56076800-56099800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:56077000-56078200	Enhancers	HSMMtube	muscle
49	chr12:56077000-56078400	Weak transcription	Osteobl	bone
50	chr12:56077000-56080200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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