Variant report

Variant	rs431982
Chromosome Location	chr5:106732144-106732145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs252803	0.94[CEU][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs252804	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs252805	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs252808	1.00[CEU][hapmap];0.92[CHB][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs252810	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs252811	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs252812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs252814	0.89[EUR][1000 genomes]
rs252815	0.89[EUR][1000 genomes]
rs252818	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs252819	1.00[CEU][hapmap];0.96[CHB][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs252983	0.92[EUR][1000 genomes]
rs252984	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs2562525	0.95[EUR][1000 genomes]
rs2731839	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2731840	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs467472	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs468998	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106725200-106733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106725600-106732200	Weak transcription	Left Ventricle	heart
4	chr5:106725800-106732400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:106725800-106740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:106728400-106732200	Weak transcription	Ovary	ovary
7	chr5:106728400-106732600	Enhancers	A549	lung
8	chr5:106728400-106738200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:106728600-106733600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:106729400-106732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:106729600-106732800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:106729800-106733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:106730000-106732400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:106730400-106732200	Enhancers	GM12878-XiMat	blood
15	chr5:106730400-106737200	Weak transcription	Fetal Lung	lung
16	chr5:106731000-106732600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:106731200-106732200	Enhancers	Fetal Kidney	kidney
18	chr5:106731200-106732600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106731200-106732600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:106731200-106733000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:106731400-106732200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:106731400-106732200	Enhancers	HSMM	muscle
23	chr5:106731400-106732200	Enhancers	NH-A	brain
24	chr5:106731400-106732600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:106731400-106732600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:106731400-106732600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:106731400-106732600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:106731400-106732600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:106731600-106732200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:106731600-106732200	Enhancers	NHDF-Ad	bronchial
31	chr5:106731600-106732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:106731600-106732400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:106731600-106732600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:106731600-106732600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:106731600-106735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:106731600-106738200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:106731800-106732200	Enhancers	Osteobl	bone
38	chr5:106731800-106732400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:106732000-106732200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:106732000-106732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:106732000-106732400	Enhancers	Fetal Heart	heart
42	chr5:106732000-106734200	Enhancers	H1 Cell Line	embryonic stem cell

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