Variant report

Variant	rs1030227
Chromosome Location	chr5:52786688-52786689
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	chr5:52778681..52781044-chr5:52786002..52788740,2	K562	blood:

Variant related genes	Relation type
ENSG00000134363	Chromatin interaction

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

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

rs_ID	r²[population]
rs12153556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2042331	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9686990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52779200-52790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:52781200-52787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:52781200-52788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:52783200-52786800	Weak transcription	Liver	Liver
5	chr5:52783400-52787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:52784200-52786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:52784400-52786800	Active TSS	HSMMtube	muscle
8	chr5:52784400-52787200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:52784400-52787600	Weak transcription	Aorta	Aorta
10	chr5:52784800-52787400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52785400-52786800	Flanking Active TSS	NHDF-Ad	bronchial
12	chr5:52785400-52786800	Enhancers	NHEK	skin
13	chr5:52785400-52787000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:52785400-52787000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:52785400-52787600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:52785600-52786800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:52785800-52786800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:52785800-52787400	Enhancers	Osteobl	bone
19	chr5:52786000-52787400	Enhancers	Psoas Muscle	Psoas
20	chr5:52786000-52787400	Enhancers	HepG2	liver
21	chr5:52786200-52786800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:52786200-52787200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:52786200-52787400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:52786200-52787400	Enhancers	NHLF	lung
25	chr5:52786200-52787600	Enhancers	HMEC	breast
26	chr5:52786400-52786800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:52786400-52787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:52786400-52787000	Enhancers	A549	lung
29	chr5:52786600-52786800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:52786600-52786800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:52786600-52786800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:52786600-52786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:52786600-52786800	Enhancers	Right Atrium	heart
34	chr5:52786600-52787000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:52786600-52787000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:52786600-52787000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:52786600-52787000	Enhancers	Adipose Nuclei	Adipose
38	chr5:52786600-52787000	Enhancers	NH-A	brain
39	chr5:52786600-52787200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:52786600-52787600	Enhancers	HSMM	muscle

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