Variant report

Variant	rs1433172
Chromosome Location	chr8:108498850-108498851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10086241	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10086336	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs10086467	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10091818	0.85[ASN][1000 genomes]
rs10955455	0.88[CHD][hapmap];0.80[JPT][hapmap]
rs12541987	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12546710	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs13439018	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs13439823	0.86[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1433165	0.84[JPT][hapmap]
rs1433166	0.84[JPT][hapmap]
rs1433167	0.84[JPT][hapmap]
rs1433185	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs1433187	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17301273	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[ASN][1000 genomes]
rs17302560	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes]
rs17302982	0.85[ASN][1000 genomes]
rs1836031	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.90[ASN][1000 genomes]
rs28577060	0.85[ASN][1000 genomes]
rs3847160	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs4100190	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4114169	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs41323951	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4571710	0.83[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs4734967	0.87[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4734973	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163052	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469113	0.85[ASN][1000 genomes]
rs7816817	0.85[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	esv1825819	chr8:108495057-108506185	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv1832361	chr8:108495057-108506185	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844679	chr8:108495057-108506185	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1433172	DPYS	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108494800-108502000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:108496600-108499600	Enhancers	Ovary	ovary
3	chr8:108496800-108499000	Enhancers	Adipose Nuclei	Adipose
4	chr8:108496800-108499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:108496800-108499400	Enhancers	Psoas Muscle	Psoas
6	chr8:108497000-108501200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:108497000-108503600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:108497200-108499400	Enhancers	Fetal Kidney	kidney
9	chr8:108497200-108499800	Enhancers	Fetal Lung	lung
10	chr8:108497400-108499000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:108497400-108499000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:108497400-108499400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:108497400-108499400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:108497400-108499400	Enhancers	Fetal Heart	heart
15	chr8:108497400-108499600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:108497400-108499600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:108497600-108499200	Weak transcription	Right Atrium	heart
18	chr8:108497600-108499400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:108497600-108499600	Enhancers	Fetal Thymus	thymus
20	chr8:108497600-108500000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108497600-108504200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:108497800-108499800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:108497800-108500200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:108497800-108503600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:108497800-108508400	Weak transcription	Left Ventricle	heart
26	chr8:108498000-108500000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:108498200-108499000	Weak transcription	Right Ventricle	heart
28	chr8:108498200-108499600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:108498200-108499600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:108498200-108499800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr8:108498200-108501600	Weak transcription	NH-A	brain
32	chr8:108498200-108501800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:108498200-108502600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:108498200-108506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:108498400-108499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:108498400-108499000	Enhancers	Brain Substantia Nigra	brain
37	chr8:108498400-108499000	Enhancers	NHDF-Ad	bronchial
38	chr8:108498400-108499200	Enhancers	Aorta	Aorta
39	chr8:108498400-108499400	Enhancers	Colon Smooth Muscle	Colon
40	chr8:108498400-108499400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:108498400-108499400	Enhancers	NHLF	lung
42	chr8:108498400-108500800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:108498400-108501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:108498400-108501400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:108498400-108502000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:108498400-108502400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:108498400-108502400	Weak transcription	Brain Anterior Caudate	brain
48	chr8:108498400-108502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:108498400-108506800	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:108498400-108507400	Weak transcription	Brain Cingulate Gyrus	brain

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