Variant report

Variant	rs2287925
Chromosome Location	chr5:52783783-52783784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1423560	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2070858	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797296	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52779000-52786000	Weak transcription	Psoas Muscle	Psoas
2	chr5:52779000-52786400	Weak transcription	A549	lung
3	chr5:52779000-52786600	Weak transcription	NH-A	brain
4	chr5:52779200-52784000	Weak transcription	Aorta	Aorta
5	chr5:52779200-52790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:52779400-52786600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:52779400-52786600	Weak transcription	Right Atrium	heart
8	chr5:52779600-52784200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:52780000-52784000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:52780000-52786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:52780200-52785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:52781200-52783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:52781200-52787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:52781200-52788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:52781400-52784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:52781600-52783800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:52781600-52785400	Weak transcription	NHEK	skin
18	chr5:52781800-52784200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:52781800-52784400	Weak transcription	HSMMtube	muscle
20	chr5:52781800-52785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:52781800-52786000	Weak transcription	HepG2	liver
22	chr5:52781800-52786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:52782200-52784000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:52782200-52784200	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:52782200-52785400	Weak transcription	Osteobl	bone
26	chr5:52782400-52783800	Strong transcription	NHDF-Ad	bronchial
27	chr5:52782400-52785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:52782400-52785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:52782600-52784200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:52782600-52784800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:52782600-52785400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:52782600-52786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:52782800-52784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:52782800-52786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:52783000-52785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:52783200-52784200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:52783200-52784400	Genic enhancers	HSMM	muscle
38	chr5:52783200-52785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:52783200-52786200	Weak transcription	NHLF	lung
40	chr5:52783200-52786800	Weak transcription	Liver	Liver
41	chr5:52783400-52784200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:52783400-52785400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:52783400-52785400	Weak transcription	HMEC	breast
44	chr5:52783400-52785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:52783400-52785600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:52783400-52786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:52783400-52787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:52783600-52784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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