Variant report

Variant	rs17091123
Chromosome Location	chr14:56681259-56681260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
2	chr14:56552357..56554889-chr14:56680041..56682175,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10132757	0.86[EUR][1000 genomes]
rs10152004	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1152464	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs1152466	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs1152478	0.81[CEU][hapmap]
rs1188693	0.83[GIH][hapmap]
rs12589933	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs1382974	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1382977	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091062	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs17091112	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17091196	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs17761563	0.84[MEX][hapmap]
rs2228708	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2297610	0.84[CHB][hapmap]
rs242413	0.86[TSI][hapmap]
rs242581	0.91[JPT][hapmap]
rs28662163	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3783659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs385141	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap]
rs3898605	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4636823	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs58116791	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61311029	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573085	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7141484	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7141949	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7143560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7152487	0.94[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7159441	0.87[AFR][1000 genomes]
rs7161103	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7161274	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs754314	0.91[JPT][hapmap]
rs8009804	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8011852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8014574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.89[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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17091123	PSMC6	cis	cerebellum	SCAN
rs17091123	FBXO34	cis	cerebellum	SCAN
rs17091123	C14orf166	cis	cerebellum	SCAN
rs17091123	PTGER2	cis	cerebellum	SCAN
rs17091123	ARID4A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
3	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56667200-56683400	Weak transcription	NHDF-Ad	bronchial
5	chr14:56672800-56683000	Weak transcription	Fetal Lung	lung
6	chr14:56673000-56682000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:56673000-56682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:56673000-56683000	Weak transcription	Fetal Kidney	kidney
9	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:56673400-56683200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
12	chr14:56673800-56682800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:56673800-56683200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:56673800-56683200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:56673800-56683600	Weak transcription	Stomach Mucosa	stomach
16	chr14:56675000-56683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:56675000-56686800	Weak transcription	Aorta	Aorta
18	chr14:56675600-56686200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:56677200-56685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:56677400-56685200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:56678000-56681600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:56678000-56683000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:56678000-56683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:56678200-56681400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:56678200-56681400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:56678200-56681400	Enhancers	Dnd41	blood
27	chr14:56678200-56682000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:56678200-56683000	Weak transcription	Adipose Nuclei	Adipose
29	chr14:56678200-56686200	Weak transcription	Right Atrium	heart
30	chr14:56678800-56681400	Enhancers	Brain Hippocampus Middle	brain
31	chr14:56679000-56683000	Weak transcription	K562	blood
32	chr14:56679000-56688800	Enhancers	Fetal Thymus	thymus
33	chr14:56679200-56681600	Enhancers	Pancreas	Pancrea
34	chr14:56679200-56682200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:56679400-56681800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:56679400-56684000	Weak transcription	Gastric	stomach
37	chr14:56679600-56682000	Weak transcription	Fetal Brain Female	brain
38	chr14:56679600-56682800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:56679600-56683400	Weak transcription	Left Ventricle	heart
40	chr14:56679600-56686800	Weak transcription	Spleen	Spleen
41	chr14:56679800-56682800	Weak transcription	Fetal Brain Male	brain
42	chr14:56679800-56683400	Weak transcription	HSMMtube	muscle
43	chr14:56679800-56683800	Weak transcription	Lung	lung
44	chr14:56679800-56686800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:56680200-56681400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:56680200-56682400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:56680200-56682800	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:56680200-56682800	Weak transcription	Small Intestine	intestine
49	chr14:56680200-56683000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:56680400-56681400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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