Variant report

Variant	rs1427794
Chromosome Location	chr12:106457923-106457924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106436023..106438944-chr12:106457354..106459862,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58706987	0.97[AFR][1000 genomes]
rs60117100	0.93[AFR][1000 genomes]
rs73395291	0.92[AFR][1000 genomes]
rs73397105	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs753924	0.94[AFR][1000 genomes];1.00[EUR][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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106446600-106459400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:106452200-106459400	Weak transcription	Fetal Lung	lung
3	chr12:106452200-106460000	Weak transcription	Placenta	Placenta
4	chr12:106452200-106460600	Weak transcription	NHLF	lung
5	chr12:106452400-106468600	Weak transcription	Psoas Muscle	Psoas
6	chr12:106452600-106459000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:106452600-106459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:106452600-106459400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:106452800-106459200	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:106452800-106459200	Weak transcription	NH-A	brain
11	chr12:106452800-106459200	Weak transcription	Osteobl	bone
12	chr12:106452800-106459400	Weak transcription	NHEK	skin
13	chr12:106452800-106460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:106452800-106460000	Weak transcription	Lung	lung
15	chr12:106452800-106463600	Weak transcription	NHDF-Ad	bronchial
16	chr12:106452800-106472200	Weak transcription	HMEC	breast
17	chr12:106452800-106474000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:106453000-106458800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:106453000-106459200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:106453000-106460200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:106453200-106460200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:106454000-106463400	Weak transcription	Fetal Brain Male	brain
23	chr12:106455200-106460000	Strong transcription	HSMM	muscle
24	chr12:106455400-106459400	Strong transcription	HSMMtube	muscle
25	chr12:106455600-106458400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:106456000-106459400	Weak transcription	Fetal Brain Female	brain
27	chr12:106456200-106458200	Enhancers	HUVEC	blood vessel
28	chr12:106456200-106459800	Weak transcription	Fetal Stomach	stomach
29	chr12:106456200-106460200	Weak transcription	Ovary	ovary
30	chr12:106456400-106458400	Weak transcription	Brain Germinal Matrix	brain
31	chr12:106456400-106459400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:106456400-106459400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:106456400-106460600	Weak transcription	Gastric	stomach
34	chr12:106456400-106461200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:106456400-106461200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:106456400-106461600	Weak transcription	Fetal Heart	heart
37	chr12:106456400-106465200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:106456400-106465400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:106456400-106468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:106456600-106458200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:106456600-106459200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:106456600-106460800	Weak transcription	Pancreas	Pancrea
43	chr12:106456600-106468800	Weak transcription	Colonic Mucosa	Colon
44	chr12:106456800-106458400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:106456800-106459200	Weak transcription	Aorta	Aorta
46	chr12:106456800-106459200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:106456800-106459400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:106456800-106460600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:106457000-106458000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:106457000-106459200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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