Variant report

Variant	rs10079318
Chromosome Location	chr5:146814432-146814433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:146813910..146815673-chr5:146829270..146831419,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10056132	0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072652	0.82[YRI][hapmap]
rs17106769	0.82[YRI][hapmap]
rs4705171	0.83[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4705172	0.87[EUR][1000 genomes]
rs7713047	0.86[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7725771	0.96[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs7732327	0.87[EUR][1000 genomes]
rs995976	0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5055	chr5:146812672-146857424	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10079318	DPYSL3	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146798200-146815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:146799000-146818400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:146804400-146815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:146804800-146831600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:146805800-146819200	Enhancers	Colon Smooth Muscle	Colon
6	chr5:146806000-146814800	Enhancers	Fetal Brain Male	brain
7	chr5:146808000-146816200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:146808200-146816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:146808200-146816600	Weak transcription	Osteobl	bone
10	chr5:146808200-146818800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:146809000-146816600	Weak transcription	Esophagus	oesophagus
12	chr5:146809400-146819200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:146810000-146823400	Weak transcription	Small Intestine	intestine
14	chr5:146810400-146815600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr5:146810800-146817600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:146810800-146819400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:146810800-146822600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:146811400-146818800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:146811600-146815400	Weak transcription	Brain Anterior Caudate	brain
20	chr5:146811600-146815400	Weak transcription	Lung	lung
21	chr5:146811600-146815600	Weak transcription	NH-A	brain
22	chr5:146811600-146818800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:146812000-146815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:146812000-146815400	Weak transcription	Psoas Muscle	Psoas
25	chr5:146812000-146816200	Weak transcription	Brain Substantia Nigra	brain
26	chr5:146812000-146816400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:146812000-146816400	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:146812000-146816800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:146812200-146815000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:146812200-146815200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:146812200-146815400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:146812200-146815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:146812200-146815400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:146812200-146816400	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:146812200-146816600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:146812200-146816800	Weak transcription	Fetal Heart	heart
37	chr5:146812200-146818400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:146812200-146818400	Weak transcription	Aorta	Aorta
39	chr5:146812200-146825600	Weak transcription	Placenta	Placenta
40	chr5:146812400-146815400	Weak transcription	Right Atrium	heart
41	chr5:146812400-146816200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:146812400-146824400	Weak transcription	Fetal Stomach	stomach
43	chr5:146812800-146814800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:146812800-146814800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:146812800-146815000	Weak transcription	Spleen	Spleen
46	chr5:146812800-146816600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:146813000-146814800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:146813000-146815400	Weak transcription	Left Ventricle	heart
49	chr5:146813000-146831800	Weak transcription	Right Ventricle	heart
50	chr5:146813200-146814800	Weak transcription	Stomach Smooth Muscle	stomach

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