Variant report

Variant	rs9568354
Chromosome Location	chr13:50487993-50487994
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: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11617754	0.81[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11839292	0.83[YRI][hapmap]
rs2066549	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2066557	1.00[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2066575	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs2066581	0.82[YRI][hapmap]
rs2066585	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2242482	0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs2472599	0.83[ASN][1000 genomes]
rs2475837	0.85[ASN][1000 genomes]
rs2740524	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2740544	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs2740545	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2760914	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2803839	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2997624	0.81[ASN][1000 genomes]
rs4548769	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4942899	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4942901	0.90[ASN][1000 genomes]
rs7336058	0.88[ASN][1000 genomes]
rs7338055	0.94[ASN][1000 genomes]
rs73489861	0.87[ASN][1000 genomes]
rs73489862	0.87[ASN][1000 genomes]
rs790943	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7986337	0.85[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9535407	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535411	0.83[YRI][hapmap]
rs9535414	0.83[YRI][hapmap]
rs9535416	0.83[YRI][hapmap]
rs9568357	0.81[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs9568363	0.92[ASN][1000 genomes]
rs9568364	0.92[ASN][1000 genomes]
rs9568366	0.84[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap]
rs9596215	0.91[ASN][1000 genomes]
rs9596219	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9596220	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9568354	DLEU2	Cis_1M	lymphoblastoid	RTeQTL
rs9568354	TRIM13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 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	chr13:50482000-50488000	Weak transcription	A549	lung
13	chr13:50482200-50488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:50482200-50490400	Weak transcription	Fetal Muscle Leg	muscle
15	chr13:50482400-50488000	Weak transcription	HMEC	breast
16	chr13:50482400-50489600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:50482600-50488000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:50482600-50490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:50482600-50490400	Weak transcription	NHLF	lung
20	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
21	chr13:50482800-50488000	Weak transcription	Placenta	Placenta
22	chr13:50483000-50492200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:50483800-50490200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:50484200-50490200	Weak transcription	Aorta	Aorta
26	chr13:50484200-50491600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:50484200-50494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:50484400-50488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50484400-50488000	Weak transcription	HSMM	muscle
30	chr13:50484400-50489800	Weak transcription	NHEK	skin
31	chr13:50484400-50490000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:50484400-50490200	Weak transcription	NH-A	brain
33	chr13:50484400-50493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:50484400-50501800	Weak transcription	HSMMtube	muscle
35	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
36	chr13:50484600-50488200	Weak transcription	NHDF-Ad	bronchial
37	chr13:50484600-50490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:50484600-50490600	Weak transcription	Brain Angular Gyrus	brain
39	chr13:50484600-50492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:50484600-50493000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:50484600-50495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:50484800-50490000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr13:50484800-50490200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:50484800-50492200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:50485000-50492000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:50485000-50493000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr13:50485000-50493400	Weak transcription	Lung	lung
49	chr13:50485000-50499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr13:50485200-50495200	Weak transcription	Small Intestine	intestine

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