Variant report

Variant	rs516529
Chromosome Location	chr11:77484735-77484736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1045590	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12417115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12788711	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2186562	0.83[JPT][hapmap]
rs28653530	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4145700	0.85[YRI][hapmap]
rs55190	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs569072	0.95[CEU][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs572541	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs585513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650636	0.83[JPT][hapmap]
rs681411	0.83[JPT][hapmap]
rs7115444	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7117813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7118800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119332	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7129325	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv976491	chr11:77459085-77487555	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
2	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:77459400-77498200	Weak transcription	NHEK	skin
4	chr11:77460000-77495800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:77462200-77500200	Weak transcription	Gastric	stomach
6	chr11:77463800-77527000	Weak transcription	Aorta	Aorta
7	chr11:77465200-77500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:77466200-77486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:77467000-77500200	Weak transcription	Esophagus	oesophagus
10	chr11:77475200-77486800	Weak transcription	Left Ventricle	heart
11	chr11:77475200-77495600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:77475200-77498000	Weak transcription	HMEC	breast
13	chr11:77475200-77501600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:77475200-77502600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:77475200-77527800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:77475400-77486400	Weak transcription	Fetal Stomach	stomach
17	chr11:77475400-77486400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:77475400-77486800	Weak transcription	Ovary	ovary
19	chr11:77475400-77488000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:77475400-77489000	Weak transcription	HSMM	muscle
21	chr11:77475400-77489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:77475400-77490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:77475400-77495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:77475400-77500400	Weak transcription	Lung	lung
25	chr11:77475400-77500600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:77475400-77501800	Weak transcription	Thymus	Thymus
27	chr11:77475400-77502400	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:77475400-77504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:77475400-77522000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:77475400-77529000	Weak transcription	NHLF	lung
31	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:77475600-77486400	Weak transcription	Placenta	Placenta
33	chr11:77475600-77486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:77475600-77486800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:77475600-77486800	Weak transcription	HepG2	liver
36	chr11:77475600-77491000	Weak transcription	NH-A	brain
37	chr11:77475600-77495200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:77475600-77498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:77475600-77498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:77475600-77500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:77475600-77511600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:77475600-77511600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:77475800-77486400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:77475800-77487000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:77475800-77491000	Weak transcription	Fetal Brain Female	brain
46	chr11:77475800-77494400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:77475800-77510400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:77475800-77522000	Weak transcription	Hela-S3	cervix
49	chr11:77476000-77486400	Weak transcription	Primary B cells from cord blood	blood
50	chr11:77476200-77485800	Weak transcription	NHDF-Ad	bronchial

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