Variant report

Variant	rs1750747
Chromosome Location	chr10:22929022-22929023
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22928174..22930597-chr10:22933685..22936850,3	K562	blood:
2	chr10:22918237..22921332-chr10:22927250..22929087,3	K562	blood:
3	chr10:22916861..22924296-chr10:22924379..22934526,17	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10508649	0.85[JPT][hapmap]
rs10741006	1.00[CHB][hapmap]
rs10828323	0.84[CEU][hapmap]
rs10828324	0.84[CEU][hapmap]
rs10828325	0.80[CEU][hapmap]
rs11013053	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11013066	0.80[CEU][hapmap]
rs11013067	0.80[CEU][hapmap]
rs11013069	0.88[CHB][hapmap]
rs11013077	0.83[CEU][hapmap]
rs11013082	0.88[CEU][hapmap]
rs1171489	0.92[EUR][1000 genomes]
rs1171490	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1171492	0.92[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1171493	0.90[EUR][1000 genomes]
rs1171494	0.87[EUR][1000 genomes]
rs1171497	0.92[CEU][hapmap]
rs1171499	0.94[EUR][1000 genomes]
rs1171503	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs1171504	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs1171505	0.80[CHD][hapmap]
rs1171506	0.92[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1171509	0.84[CEU][hapmap];0.94[TSI][hapmap]
rs12354766	0.84[CEU][hapmap]
rs12358560	0.80[CEU][hapmap]
rs12774725	0.80[CEU][hapmap]
rs1343504	0.80[CEU][hapmap]
rs1409393	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1409394	0.91[EUR][1000 genomes]
rs1409395	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs1539628	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1614387	0.92[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16922558	0.85[JPT][hapmap]
rs16922574	0.85[JPT][hapmap]
rs16922619	0.85[JPT][hapmap]
rs16922629	0.85[JPT][hapmap]
rs1750748	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs1750775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1750777	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1750778	0.84[EUR][1000 genomes]
rs1778334	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1778335	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1778338	0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs1778339	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1778340	0.84[CEU][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs1778342	0.92[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1778345	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1778346	0.92[EUR][1000 genomes]
rs1778347	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2154053	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2559534	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2798981	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs34208652	0.82[EUR][1000 genomes]
rs7914338	0.85[JPT][hapmap]
rs943196	0.92[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1750747	PIP4K2A	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22909800-22930400	Weak transcription	Fetal Stomach	stomach
2	chr10:22912800-22929200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:22915000-22951800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:22915200-22935600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:22915200-22936200	Weak transcription	Psoas Muscle	Psoas
6	chr10:22915400-22935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:22919200-22931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:22919800-22935000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr10:22920000-22929800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr10:22920000-22929800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr10:22920000-22931800	Weak transcription	Fetal Lung	lung
12	chr10:22920000-22931800	Weak transcription	NHLF	lung
13	chr10:22920000-22935000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr10:22920000-22936400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:22920200-22935200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:22920400-22930600	Weak transcription	Aorta	Aorta
17	chr10:22920600-22929200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:22920600-22929200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:22920800-22933600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr10:22921000-22929800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:22921000-22933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:22921000-22940400	Weak transcription	Ovary	ovary
23	chr10:22921200-22935000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:22921200-22935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:22921600-22930000	Enhancers	Brain Hippocampus Middle	brain
26	chr10:22922800-22933000	Weak transcription	Lung	lung
27	chr10:22923000-22937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:22923200-22932400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr10:22923200-22936200	Weak transcription	Esophagus	oesophagus
30	chr10:22923400-22929400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:22923600-22930800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr10:22924800-22932000	Weak transcription	Small Intestine	intestine
33	chr10:22925200-22929200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:22925200-22929400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr10:22925600-22931000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:22925600-22931800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr10:22925800-22929200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:22925800-22929400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr10:22926000-22938600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr10:22926200-22935200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:22926600-22930800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:22926800-22929200	Weak transcription	Left Ventricle	heart
43	chr10:22926800-22929400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr10:22926800-22931000	Weak transcription	Primary B cells from cord blood	blood
45	chr10:22926800-22932000	Weak transcription	K562	blood
46	chr10:22926800-22932200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:22926800-22932400	Weak transcription	Fetal Thymus	thymus
48	chr10:22926800-22932400	Weak transcription	Pancreas	Pancrea
49	chr10:22926800-22932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:22926800-22933000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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