Variant report

Variant	rs11949661
Chromosome Location	chr5:112476772-112476773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11955020	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59624235	1.00[AMR][1000 genomes]
rs726038	1.00[AMR][1000 genomes]
rs73235110	1.00[AMR][1000 genomes]
rs73235120	1.00[AMR][1000 genomes]
rs73235125	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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:112467800-112476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:112469400-112477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
9	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
10	chr5:112474600-112476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:112475400-112476800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112475600-112479200	Strong transcription	Liver	Liver
14	chr5:112475800-112479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:112476200-112476800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:112476200-112477600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112476200-112478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:112476200-112478400	Enhancers	NHDF-Ad	bronchial
19	chr5:112476200-112479400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:112476400-112476800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:112476400-112476800	Enhancers	Right Ventricle	heart
22	chr5:112476400-112477000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:112476400-112477000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:112476400-112477000	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:112476400-112477400	Genic enhancers	Ovary	ovary
26	chr5:112476400-112477400	Enhancers	Right Atrium	heart
27	chr5:112476400-112477400	Enhancers	NHLF	lung
28	chr5:112476400-112477600	Enhancers	Brain Substantia Nigra	brain
29	chr5:112476400-112478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:112476400-112478000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:112476400-112478000	Enhancers	Left Ventricle	heart
32	chr5:112476400-112478200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:112476400-112478200	Enhancers	HSMMtube	muscle
34	chr5:112476400-112478600	Enhancers	Osteobl	bone
35	chr5:112476600-112477000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:112476600-112477400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:112476600-112477400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:112476600-112477400	Strong transcription	Esophagus	oesophagus
39	chr5:112476600-112477400	Enhancers	Placenta	Placenta
40	chr5:112476600-112477400	Strong transcription	Fetal Stomach	stomach
41	chr5:112476600-112477600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:112476600-112477600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:112476600-112477800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112476600-112478000	Enhancers	Brain Hippocampus Middle	brain
45	chr5:112476600-112478000	Enhancers	NH-A	brain
46	chr5:112476600-112478600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:112476600-112478600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:112476600-112478800	Enhancers	HMEC	breast
49	chr5:112476600-112478800	Genic enhancers	NHEK	skin

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