Variant report

Variant	rs7481222
Chromosome Location	chr11:86818707-86818708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2124579	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2374996	0.81[AMR][1000 genomes]
rs2445543	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2445549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2445552	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2445564	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445565	0.84[EUR][1000 genomes]
rs2445570	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2445581	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2451066	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2512335	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2512347	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2512379	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2512392	0.83[EUR][1000 genomes]
rs2512486	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2513208	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513219	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2513220	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2513225	0.84[EUR][1000 genomes]
rs2513234	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468776	chr11:86788716-86826422	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv555706	chr11:86788716-86826422	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86787400-86819600	Weak transcription	NH-A	brain
2	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:86787800-86819400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
6	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:86798000-86820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:86798400-86821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:86799600-86821000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:86804400-86824800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:86804600-86824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
13	chr11:86806800-86829600	Weak transcription	Primary T cells from cord blood	blood
14	chr11:86806800-86835800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:86808800-86819400	Weak transcription	Dnd41	blood
16	chr11:86808800-86819600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:86808800-86824600	Weak transcription	Adipose Nuclei	Adipose
18	chr11:86809000-86819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:86809000-86819400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:86809000-86819600	Weak transcription	Stomach Mucosa	stomach
21	chr11:86809000-86844000	Weak transcription	Ovary	ovary
22	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
23	chr11:86809400-86819800	Weak transcription	Liver	Liver
24	chr11:86809400-86825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:86813600-86819400	Weak transcription	HepG2	liver
26	chr11:86813600-86819800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:86813600-86825000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:86816400-86818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:86816600-86819400	Weak transcription	Fetal Stomach	stomach
30	chr11:86816600-86838000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:86817400-86819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:86818200-86819600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:86818200-86819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86818200-86819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:86818200-86821000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:86818200-86824600	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:86818200-86828200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:86818200-86832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:86818200-86839200	Weak transcription	Fetal Lung	lung
40	chr11:86818200-86842800	Weak transcription	Aorta	Aorta
41	chr11:86818400-86842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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