Variant report

Variant	rs649671
Chromosome Location	chr11:77550780-77550781
allele	C/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	CTCF	chr11:77550665-77550781	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
AAMDC	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs108843	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899396	0.86[ASN][1000 genomes]
rs10899397	0.86[ASN][1000 genomes]
rs10899401	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10899414	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11237264	0.88[ASN][1000 genomes]
rs11237279	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12294668	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12418931	0.86[ASN][1000 genomes]
rs1783547	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508184	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35711367	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570786	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs581807	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs582866	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584732	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585172	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591283	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598933	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs600968	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs601551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs603462	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608389	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608539	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs609151	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs611671	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs611906	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs636041	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647235	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs658398	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs667213	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675925	0.82[AFR][1000 genomes]
rs679155	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs679526	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs685474	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs694893	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7925289	0.85[ASN][1000 genomes]
rs7929313	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7936105	0.92[ASN][1000 genomes]
rs9667706	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	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
2	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
3	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
4	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77533000-77553800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:77533000-77554000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:77533000-77554200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:77533400-77552200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:77533400-77552200	Weak transcription	Left Ventricle	heart
6	chr11:77533400-77553800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:77533400-77554000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:77533400-77565600	Weak transcription	Gastric	stomach
9	chr11:77533400-77565600	Weak transcription	Pancreas	Pancrea
10	chr11:77533600-77552200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:77533600-77553000	Weak transcription	HUVEC	blood vessel
12	chr11:77534600-77555400	Weak transcription	Lung	lung
13	chr11:77535200-77551800	Weak transcription	Ovary	ovary
14	chr11:77535200-77552800	Weak transcription	Aorta	Aorta
15	chr11:77535200-77553800	Weak transcription	NHDF-Ad	bronchial
16	chr11:77535200-77554200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:77535200-77554400	Weak transcription	HSMM	muscle
18	chr11:77535400-77552000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:77535400-77552200	Weak transcription	Liver	Liver
20	chr11:77535400-77553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:77535400-77553400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:77535400-77554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:77535400-77555000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:77535400-77565600	Weak transcription	HepG2	liver
25	chr11:77535800-77552000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:77535800-77552200	Weak transcription	Adipose Nuclei	Adipose
27	chr11:77535800-77552200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:77536600-77552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:77541600-77553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:77543000-77552200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:77544600-77552200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:77544600-77552400	Weak transcription	Psoas Muscle	Psoas
33	chr11:77544600-77552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:77544600-77555400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:77544600-77564400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:77544600-77565400	Weak transcription	Spleen	Spleen
37	chr11:77544800-77551800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:77544800-77552400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:77544800-77553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:77544800-77554200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:77544800-77554200	Weak transcription	Dnd41	blood
42	chr11:77544800-77554400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:77544800-77564400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:77544800-77565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:77545000-77554000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:77545000-77555400	Weak transcription	Fetal Kidney	kidney
47	chr11:77547200-77565800	Weak transcription	Fetal Heart	heart
48	chr11:77547600-77555200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:77549000-77553400	Weak transcription	NH-A	brain

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