Variant report

Variant	rs11234691
Chromosome Location	chr11:86264114-86264115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86262717..86264689-chr11:86268387..86270580,2	K562	blood:
2	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12287767	0.92[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs17211115	0.92[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1945143	0.83[CEU][hapmap]
rs2446225	0.80[JPT][hapmap]
rs2446230	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4944588	0.87[ASN][1000 genomes]
rs4944595	0.92[CEU][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap]
rs579719	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs582282	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs583594	0.84[JPT][hapmap]
rs590750	0.87[ASN][1000 genomes]
rs601646	0.91[JPT][hapmap]
rs610790	0.85[CHB][hapmap]
rs611730	0.85[CHB][hapmap]
rs616794	0.95[JPT][hapmap]
rs620054	0.89[ASN][1000 genomes]
rs631082	0.94[JPT][hapmap]
rs632873	0.95[JPT][hapmap]
rs633708	0.85[ASN][1000 genomes]
rs638492	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs641541	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs647561	0.95[JPT][hapmap]
rs653715	0.85[JPT][hapmap]
rs658324	0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs660372	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs663208	0.91[JPT][hapmap]
rs664613	0.95[JPT][hapmap]
rs669325	0.91[JPT][hapmap]
rs676106	0.95[JPT][hapmap]
rs677301	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs677643	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11234691	GLUL	trans	lymphoblastoid	seeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86258800-86264600	Enhancers	Right Atrium	heart
2	chr11:86259200-86264400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:86260000-86266200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
9	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:86260400-86264200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:86260800-86265000	Enhancers	Fetal Intestine Large	intestine
13	chr11:86260800-86265000	Enhancers	Left Ventricle	heart
14	chr11:86260800-86265000	Enhancers	Pancreas	Pancrea
15	chr11:86261000-86265600	Weak transcription	Fetal Brain Female	brain
16	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:86261400-86264200	Enhancers	Lung	lung
18	chr11:86261400-86264400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:86261400-86264400	Enhancers	Spleen	Spleen
20	chr11:86261600-86265000	Enhancers	Right Ventricle	heart
21	chr11:86261800-86264200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:86261800-86265000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:86262000-86264800	Enhancers	Stomach Mucosa	stomach
24	chr11:86262200-86265000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:86262200-86265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:86262200-86265400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:86262400-86268200	Weak transcription	Primary T cells from cord blood	blood
28	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:86262600-86264400	Enhancers	Colonic Mucosa	Colon
30	chr11:86263000-86264400	Enhancers	Fetal Thymus	thymus
31	chr11:86263000-86266000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:86263000-86268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:86263000-86269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:86263000-86269600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:86263200-86264200	Strong transcription	Brain Germinal Matrix	brain
36	chr11:86263200-86264600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:86263200-86266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:86263200-86266200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:86263200-86266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:86263200-86267200	Weak transcription	Fetal Heart	heart
41	chr11:86263200-86267400	Weak transcription	HSMMtube	muscle
42	chr11:86263200-86269400	Weak transcription	NHDF-Ad	bronchial
43	chr11:86263200-86269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:86263200-86270000	Weak transcription	NHLF	lung
45	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
46	chr11:86263200-86270600	Weak transcription	Gastric	stomach
47	chr11:86263400-86264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:86263400-86264400	Weak transcription	NHEK	skin
49	chr11:86263400-86265400	Strong transcription	Adipose Nuclei	Adipose
50	chr11:86263400-86265400	Strong transcription	Fetal Stomach	stomach

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