Variant report

Variant	rs1732384
Chromosome Location	chr12:105545902-105545903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr12:105545728-105545906	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KIAA1033	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11112414	0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs11610656	0.83[ASN][1000 genomes]
rs1196750	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1196751	0.96[CEU][hapmap];0.87[TSI][hapmap]
rs1196766	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1196767	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1196768	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs1196781	0.80[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs1196788	0.80[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs1196796	0.86[JPT][hapmap]
rs1196803	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196804	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1196809	0.97[ASN][1000 genomes]
rs1196810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196812	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196814	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1196816	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196821	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196822	0.96[ASN][1000 genomes]
rs1196826	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196827	0.90[CEU][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196828	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196829	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196835	0.93[ASN][1000 genomes]
rs1196836	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1196837	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196838	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1196840	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196843	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1196846	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196850	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196854	0.95[ASN][1000 genomes]
rs1196855	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196856	0.95[ASN][1000 genomes]
rs1196858	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196860	0.95[ASN][1000 genomes]
rs1196865	0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1196866	0.96[ASN][1000 genomes]
rs1196867	0.96[ASN][1000 genomes]
rs1196868	0.97[ASN][1000 genomes]
rs1196870	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196876	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196877	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196878	0.99[ASN][1000 genomes]
rs1196883	0.84[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.84[MKK][hapmap]
rs1201657	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1201658	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732371	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1732378	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1732379	0.94[ASN][1000 genomes]
rs2264066	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2374448	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2440708	0.85[JPT][hapmap]
rs2440713	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2440717	0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2440719	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727888	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs7310488	0.93[JPT][hapmap]
rs9143	0.89[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1732384	KIAA1033	cis	cerebellum	SCAN
rs1732384	APPL2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:105506800-105568800	Strong transcription	Dnd41	blood
11	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
16	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
19	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
22	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:105508800-105565000	Strong transcription	Liver	Liver
26	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
28	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:105517800-105555200	Weak transcription	Small Intestine	intestine
30	chr12:105518600-105573200	Strong transcription	HSMM	muscle
31	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:105520000-105550000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
35	chr12:105522800-105548200	Weak transcription	Brain Angular Gyrus	brain
36	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:105525400-105546800	Weak transcription	Colonic Mucosa	Colon
38	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
39	chr12:105525600-105549000	Weak transcription	Right Ventricle	heart
40	chr12:105527200-105565400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:105528800-105549800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:105529800-105549200	Strong transcription	NH-A	brain
43	chr12:105529800-105571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:105531200-105548800	Weak transcription	Esophagus	oesophagus
45	chr12:105531200-105557200	Weak transcription	Gastric	stomach
46	chr12:105531200-105557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:105531600-105550400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:105531800-105547400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:105532200-105552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:105532400-105577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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