Variant report

Variant	rs9946933
Chromosome Location	chr18:43513262-43513263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10432160	0.81[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs10432197	0.81[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs11082497	0.91[ASN][1000 genomes]
rs11082498	0.91[ASN][1000 genomes]
rs11082499	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082501	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11661333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11665273	0.91[ASN][1000 genomes]
rs12232683	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12454420	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12604430	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12604492	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12604880	0.91[ASN][1000 genomes]
rs12953791	0.91[ASN][1000 genomes]
rs12954728	0.91[ASN][1000 genomes]
rs1371976	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1573404	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573405	0.93[ASN][1000 genomes]
rs1893523	0.82[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[MKK][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs2004084	0.90[ASN][1000 genomes]
rs2004085	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs28430300	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28729696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34775986	0.98[ASN][1000 genomes]
rs3744996	0.93[ASN][1000 genomes]
rs3745000	0.87[ASN][1000 genomes]
rs3826634	0.91[ASN][1000 genomes]
rs4629066	0.92[ASN][1000 genomes]
rs57011365	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57484487	0.93[ASN][1000 genomes]
rs57531499	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58306126	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58312765	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59884993	0.93[ASN][1000 genomes]
rs60288752	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60866799	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61363974	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61680317	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6507648	0.99[ASN][1000 genomes]
rs6507652	0.93[ASW][hapmap];0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7226881	0.82[ASN][1000 genomes]
rs7230104	0.85[ASN][1000 genomes]
rs7234750	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7235022	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235629	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7237861	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7238229	0.91[ASN][1000 genomes]
rs7242733	0.82[ASN][1000 genomes]
rs72918390	0.82[ASN][1000 genomes]
rs73953913	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73953914	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086343	0.91[ASN][1000 genomes]
rs8086401	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8087546	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8088080	0.96[ASN][1000 genomes]
rs8091448	0.93[ASN][1000 genomes]
rs8093119	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs8094023	0.99[ASN][1000 genomes]
rs8097415	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8097963	0.91[ASN][1000 genomes]
rs8098012	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8098175	0.89[ASN][1000 genomes]
rs8098701	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9946797	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9947914	0.91[ASN][1000 genomes]
rs9948988	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9955285	0.93[ASW][hapmap];0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9955829	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9957288	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9958844	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9959763	0.89[ASN][1000 genomes]
rs9959893	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9960220	0.91[ASN][1000 genomes]
rs9960231	0.91[ASN][1000 genomes]
rs9962353	0.98[ASN][1000 genomes]
rs9963463	0.87[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9964220	0.82[ASN][1000 genomes]
rs9964347	0.85[ASN][1000 genomes]
rs9964996	0.91[ASN][1000 genomes]
rs9965433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9946933	KIAA1632	cis	lymphoblastoid	seeQTL
rs9946933	KIAA1632	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:43469800-43519000	Weak transcription	A549	lung
3	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
6	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43477800-43513600	Strong transcription	Fetal Thymus	thymus
8	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
10	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
13	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
15	chr18:43494200-43520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:43496400-43518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:43496600-43518800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:43499200-43516200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr18:43500200-43513600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr18:43501000-43515000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:43501000-43515600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:43501000-43515800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:43501000-43516600	Strong transcription	Adipose Nuclei	Adipose
25	chr18:43501000-43518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr18:43501200-43514800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:43501200-43515600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:43501200-43516600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr18:43501800-43513400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:43502600-43519400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:43503400-43518800	Weak transcription	NHEK	skin
34	chr18:43504000-43513400	Strong transcription	NHDF-Ad	bronchial
35	chr18:43504600-43515600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr18:43505200-43518600	Weak transcription	Right Ventricle	heart
38	chr18:43505200-43518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:43505200-43519200	Weak transcription	HMEC	breast
40	chr18:43505600-43513600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr18:43505800-43517800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:43505800-43520000	Weak transcription	Small Intestine	intestine
43	chr18:43505800-43520600	Weak transcription	Psoas Muscle	Psoas
44	chr18:43507000-43515000	Strong transcription	Osteobl	bone
45	chr18:43507000-43515600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:43507200-43515600	Strong transcription	Liver	Liver
47	chr18:43507200-43516800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:43507400-43513600	Strong transcription	HSMMtube	muscle
49	chr18:43507400-43515400	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr18:43507600-43513400	Strong transcription	Primary hematopoietic stem cells	blood

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