Variant report

Variant	rs1063183
Chromosome Location	chr13:50489083-50489084
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	chr13:50486918..50489140-chr13:50503061..50505201,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1043208	0.84[EUR][1000 genomes]
rs10492746	0.84[EUR][1000 genomes]
rs1063181	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12100038	0.90[ASN][1000 genomes]
rs12100048	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs12583615	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12583637	0.90[EUR][1000 genomes]
rs12583652	0.81[EUR][1000 genomes]
rs12583823	0.83[EUR][1000 genomes]
rs12584069	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12584122	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585753	0.84[EUR][1000 genomes]
rs12585966	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17073655	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17073724	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1807033	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2066540	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs2066546	0.81[EUR][1000 genomes]
rs2066547	0.81[EUR][1000 genomes]
rs2066552	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2066553	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs2066555	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs2177313	1.00[JPT][hapmap]
rs2181267	0.85[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181268	0.86[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2407881	0.90[EUR][1000 genomes]
rs2407882	0.86[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs41308548	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4614628	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638467	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55727821	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55869555	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57230741	0.81[EUR][1000 genomes]
rs59931782	0.83[EUR][1000 genomes]
rs60574696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60583460	0.81[EUR][1000 genomes]
rs61960398	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61960442	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960445	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960446	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960447	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61960449	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960450	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960451	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61960454	0.83[EUR][1000 genomes]
rs61960455	0.83[EUR][1000 genomes]
rs61960457	0.92[EUR][1000 genomes]
rs61961261	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61961263	0.81[EUR][1000 genomes]
rs61961298	0.82[EUR][1000 genomes]
rs61961299	0.81[EUR][1000 genomes]
rs61961301	0.86[EUR][1000 genomes]
rs61961303	0.84[EUR][1000 genomes]
rs61961305	0.84[AFR][1000 genomes]
rs61961327	0.81[AFR][1000 genomes]
rs61961328	0.81[AFR][1000 genomes]
rs6561571	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6561572	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs6561575	0.82[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap]
rs73194486	0.95[ASN][1000 genomes]
rs73196708	0.90[ASN][1000 genomes]
rs73196731	0.90[EUR][1000 genomes]
rs732729	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7328892	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7334063	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs7336477	0.83[EUR][1000 genomes]
rs7339181	0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs74078717	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7982125	0.82[ASW][hapmap];0.85[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap]
rs7984332	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs7986432	0.83[EUR][1000 genomes]
rs7990502	0.85[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7991454	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992903	0.83[EUR][1000 genomes]
rs7994224	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs7995557	0.86[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7997305	0.83[EUR][1000 genomes]
rs7997402	0.92[EUR][1000 genomes]
rs7997638	0.81[EUR][1000 genomes]
rs7998223	1.00[JPT][hapmap]
rs7998391	0.90[EUR][1000 genomes]
rs9670083	0.81[EUR][1000 genomes];0.90[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	esv1851738	chr13:50474326-50507944	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1063183	DLEU1	Cis_1M	lymphoblastoid	RTeQTL
rs1063183	DLEU1	cis	lymphoblastoid	seeQTL
rs1063183	KIAA1704	cis	cerebellum	SCAN
rs1063183	TRIM13	cis	cerebellum	SCAN
rs1063183	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs1063183	C13orf1	cis	cerebellum	SCAN
rs1063183	KCNRG	cis	cerebellum	SCAN
rs1063183	FAM194B	cis	parietal	SCAN
rs1063183	RB1	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50476400-50497400	Weak transcription	Pancreas	Pancrea
2	chr13:50477800-50499600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:50478000-50495200	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:50478600-50491400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:50479200-50489600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:50479400-50490600	Weak transcription	Esophagus	oesophagus
7	chr13:50479600-50508600	Weak transcription	K562	blood
8	chr13:50479800-50500000	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
10	chr13:50481400-50489600	Weak transcription	Fetal Intestine Large	intestine
11	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
12	chr13:50482200-50490400	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:50482400-50489600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:50482600-50490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:50482600-50490400	Weak transcription	NHLF	lung
16	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
17	chr13:50483000-50492200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:50483800-50490200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:50484200-50490200	Weak transcription	Aorta	Aorta
21	chr13:50484200-50491600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:50484200-50494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:50484400-50489800	Weak transcription	NHEK	skin
24	chr13:50484400-50490000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:50484400-50490200	Weak transcription	NH-A	brain
26	chr13:50484400-50493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:50484400-50501800	Weak transcription	HSMMtube	muscle
28	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
29	chr13:50484600-50490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr13:50484600-50490600	Weak transcription	Brain Angular Gyrus	brain
31	chr13:50484600-50492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:50484600-50493000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr13:50484600-50495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:50484800-50490000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr13:50484800-50490200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:50484800-50492200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:50485000-50492000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:50485000-50493000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr13:50485000-50493400	Weak transcription	Lung	lung
41	chr13:50485000-50499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr13:50485200-50495200	Weak transcription	Small Intestine	intestine
43	chr13:50485800-50501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:50485800-50506200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:50485800-50509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:50486000-50489800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:50486000-50491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50486000-50492800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:50486000-50496200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr13:50486000-50503400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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