Variant report

Variant	rs13179272
Chromosome Location	chr5:36610416-36610417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11741316	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11743024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13155110	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366637	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2731914	1.00[JPT][hapmap]
rs2731916	0.86[JPT][hapmap]
rs2731917	1.00[JPT][hapmap]
rs35668907	0.94[AMR][1000 genomes];0.97[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36604800-36612000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:36605400-36612800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:36605800-36611200	Active TSS	Right Atrium	heart
4	chr5:36606200-36611000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr5:36606400-36612000	Active TSS	Fetal Brain Female	brain
6	chr5:36607000-36610800	Active TSS	Fetal Brain Male	brain
7	chr5:36607800-36613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:36608200-36611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:36608200-36613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:36608400-36615400	Weak transcription	HSMMtube	muscle
11	chr5:36608400-36617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:36608600-36611600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:36608600-36611800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:36608600-36612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:36608600-36612800	Weak transcription	Fetal Lung	lung
16	chr5:36608600-36613000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:36608600-36617200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:36608800-36611000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:36608800-36611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:36608800-36611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:36608800-36611600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:36608800-36612600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:36608800-36612800	Weak transcription	Placenta	Placenta
24	chr5:36608800-36613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:36608800-36614800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
27	chr5:36609000-36610800	Weak transcription	Osteobl	bone
28	chr5:36609000-36611200	Genic enhancers	Hela-S3	cervix
29	chr5:36609000-36614800	Weak transcription	NH-A	brain
30	chr5:36609200-36610600	Strong transcription	NHDF-Ad	bronchial
31	chr5:36609200-36611000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:36609200-36611800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:36609200-36612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:36609200-36613800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr5:36609200-36617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:36609400-36610600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:36609400-36610600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:36609400-36610800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:36609400-36613600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:36609400-36619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:36609400-36619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr5:36609600-36610800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:36609600-36612000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:36609800-36611400	Flanking Active TSS	Fetal Heart	heart
45	chr5:36609800-36613200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:36609800-36614400	Strong transcription	HMEC	breast
47	chr5:36610000-36610600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:36610000-36610600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr5:36610000-36611000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:36610000-36611000	Flanking Active TSS	Brain Angular Gyrus	brain

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