Variant report

Variant	rs56373044
Chromosome Location	chr5:108247311-108247312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10515394	0.90[ASN][1000 genomes]
rs10515396	0.82[AMR][1000 genomes]
rs12109934	0.84[ASN][1000 genomes]
rs55656635	0.82[AMR][1000 genomes]
rs6883442	0.80[ASN][1000 genomes]
rs7713541	0.82[AMR][1000 genomes]
rs7723765	0.80[ASN][1000 genomes]
rs7725263	0.80[ASN][1000 genomes]
rs9885082	0.82[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108183800-108260400	Weak transcription	Ovary	ovary
2	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
5	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:108214200-108272200	Weak transcription	Gastric	stomach
8	chr5:108217400-108253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
10	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:108228600-108247600	Weak transcription	Liver	Liver
12	chr5:108229600-108269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:108230200-108302400	Weak transcription	HSMM	muscle
14	chr5:108230600-108249400	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:108230600-108260000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:108235000-108253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:108235200-108252400	Weak transcription	NHEK	skin
18	chr5:108235200-108253000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:108236800-108253400	Weak transcription	NH-A	brain
20	chr5:108238200-108247400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:108240400-108252800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:108242200-108249400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:108242200-108271000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:108242800-108252800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:108244600-108248400	Weak transcription	HMEC	breast
27	chr5:108246400-108248800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:108246600-108247600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:108246600-108251000	Weak transcription	Psoas Muscle	Psoas
30	chr5:108246800-108253000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:108247000-108252800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung

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