Variant report

Variant	rs477335
Chromosome Location	chr11:66388302-66388303
allele	G/T
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:23)

rs_ID	r²[population]
rs13897	0.89[ASN][1000 genomes]
rs17147749	0.89[ASN][1000 genomes]
rs2290463	0.89[ASN][1000 genomes]
rs3782079	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs478807	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs479261	0.82[AMR][1000 genomes]
rs519380	0.86[ASN][1000 genomes]
rs527550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662252	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs563344	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56680801	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56848911	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57206977	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57220229	0.91[AMR][1000 genomes]
rs573673	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575797	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60084486	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60395535	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs623022	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs639938	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs645307	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs648491	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs744465	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66384200-66389200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:66385400-66406200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:66385600-66388800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:66385800-66388400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:66386000-66390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:66386200-66398400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:66386400-66391600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:66386600-66388400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:66386600-66388400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:66386600-66388400	Enhancers	Brain Anterior Caudate	brain
11	chr11:66386600-66388400	Weak transcription	Ovary	ovary
12	chr11:66386600-66388600	Weak transcription	Gastric	stomach
13	chr11:66386600-66388800	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:66386600-66388800	Strong transcription	HSMM	muscle
15	chr11:66386600-66390200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:66386600-66390200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:66386600-66391600	Enhancers	Stomach Mucosa	stomach
18	chr11:66386800-66388400	Weak transcription	Lung	lung
19	chr11:66386800-66388600	Weak transcription	Esophagus	oesophagus
20	chr11:66386800-66388600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:66386800-66388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:66386800-66388800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:66386800-66389200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:66386800-66389200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:66386800-66389200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:66386800-66390000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:66386800-66390200	Weak transcription	Fetal Kidney	kidney
28	chr11:66386800-66390400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:66386800-66390400	Weak transcription	Aorta	Aorta
30	chr11:66386800-66391600	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr11:66386800-66393200	Weak transcription	HSMMtube	muscle
32	chr11:66386800-66393400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:66386800-66405600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:66387000-66388400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:66387000-66388400	Strong transcription	Fetal Stomach	stomach
36	chr11:66387000-66388400	Genic enhancers	NHEK	skin
37	chr11:66387000-66388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:66387000-66388600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:66387000-66388600	Weak transcription	Right Ventricle	heart
40	chr11:66387000-66388800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:66387000-66388800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:66387000-66388800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr11:66387000-66388800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr11:66387000-66388800	Enhancers	Liver	Liver
45	chr11:66387000-66388800	Enhancers	Fetal Brain Female	brain
46	chr11:66387000-66388800	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:66387000-66388800	Genic enhancers	NH-A	brain
48	chr11:66387000-66389000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:66387000-66389000	Genic enhancers	Fetal Thymus	thymus
50	chr11:66387000-66389200	Enhancers	Primary B cells from cord blood	blood

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