Variant report

Variant	rs11960053
Chromosome Location	chr5:146831293-146831294
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	chr5:146813910..146815673-chr5:146829270..146831419,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1030664	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11950421	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952079	0.89[AFR][1000 genomes]
rs11955404	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11958380	0.89[AFR][1000 genomes]
rs13340366	0.91[AFR][1000 genomes]
rs17106746	0.89[AFR][1000 genomes]
rs7730192	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737670	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][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	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
3	chr5:146817200-146831800	Weak transcription	Esophagus	oesophagus
4	chr5:146819200-146831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:146819200-146831600	Weak transcription	Spleen	Spleen
6	chr5:146823200-146831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:146826600-146831800	Weak transcription	Lung	lung
8	chr5:146826600-146832000	Weak transcription	Fetal Heart	heart
9	chr5:146826600-146832000	Weak transcription	Psoas Muscle	Psoas
10	chr5:146827000-146831600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:146828000-146831400	Enhancers	Colon Smooth Muscle	Colon
12	chr5:146828600-146831600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:146829000-146831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:146829200-146831600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:146829200-146832000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:146829400-146832200	Weak transcription	HSMMtube	muscle
17	chr5:146829800-146831400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:146829800-146831600	Active TSS	Fetal Brain Female	brain
19	chr5:146830000-146831400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:146830200-146831600	Active TSS	Brain Germinal Matrix	brain
21	chr5:146830400-146831400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr5:146830400-146831600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:146830400-146832400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:146830400-146834200	Active TSS	Fetal Brain Male	brain
25	chr5:146830600-146831600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:146830600-146831600	Active TSS	NH-A	brain
27	chr5:146830600-146834000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:146830800-146831400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr5:146830800-146831600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:146830800-146831600	Enhancers	Fetal Muscle Leg	muscle
31	chr5:146830800-146831800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:146830800-146832200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:146830800-146832200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr5:146830800-146832600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:146830800-146834200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:146831000-146831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:146831000-146831400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:146831000-146831400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:146831000-146831400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:146831000-146831400	Weak transcription	Left Ventricle	heart
41	chr5:146831000-146831400	Weak transcription	Right Atrium	heart
42	chr5:146831000-146831400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:146831000-146831600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:146831000-146831600	Active TSS	Brain Hippocampus Middle	brain
45	chr5:146831000-146831600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:146831000-146831600	Active TSS	NHLF	lung
47	chr5:146831000-146831800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr5:146831000-146832800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:146831000-146834400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:146831000-146835000	Active TSS	Aorta	Aorta

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