Variant report

Variant	rs9686990
Chromosome Location	chr5:52785254-52785255
allele	C/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]
rs1030227	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153556	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2042331	0.88[AMR][1000 genomes];0.83[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:42 , 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	chr5:52779200-52790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:52779400-52786600	Weak transcription	Adipose Nuclei	Adipose
6	chr5:52779400-52786600	Weak transcription	Right Atrium	heart
7	chr5:52780000-52786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:52780200-52785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:52781200-52787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:52781200-52788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:52781600-52785400	Weak transcription	NHEK	skin
12	chr5:52781800-52785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:52781800-52786000	Weak transcription	HepG2	liver
14	chr5:52781800-52786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:52782200-52785400	Weak transcription	Osteobl	bone
16	chr5:52782400-52785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:52782600-52785400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:52782600-52786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:52782800-52786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:52783200-52785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:52783200-52786200	Weak transcription	NHLF	lung
22	chr5:52783200-52786800	Weak transcription	Liver	Liver
23	chr5:52783400-52785400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:52783400-52785400	Weak transcription	HMEC	breast
25	chr5:52783400-52785600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:52783400-52785600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:52783400-52786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:52783400-52787400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:52783800-52785400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:52784200-52786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:52784400-52785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:52784400-52785400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:52784400-52785400	Weak transcription	HSMM	muscle
34	chr5:52784400-52786800	Active TSS	HSMMtube	muscle
35	chr5:52784400-52787200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:52784400-52787600	Weak transcription	Aorta	Aorta
37	chr5:52784600-52785600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:52784800-52786200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:52784800-52786400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:52784800-52787400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:52785000-52785400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:52785200-52785400	Active TSS	NHDF-Ad	bronchial

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