Variant report

Variant	rs11606706
Chromosome Location	chr11:57383575-57383576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57377247..57378920-chr11:57381963..57383833,2	K562	blood:

Variant related genes	Relation type
ENSG00000149131	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10750866	0.85[ASN][1000 genomes]
rs10896631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896632	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229063	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229066	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229067	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229077	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229078	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229080	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11603020	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11606677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607122	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11820040	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1647395	0.84[ASN][1000 genomes]
rs2081361	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28362934	0.89[ASN][1000 genomes]
rs28362947	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362948	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362949	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362950	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28362951	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34052104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758918	0.89[ASN][1000 genomes]
rs3758919	0.89[ASN][1000 genomes]
rs3824988	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649513	0.84[ASN][1000 genomes]
rs55920079	0.84[ASN][1000 genomes]
rs7102271	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117878	0.93[AFR][1000 genomes]
rs7117896	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731384	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73480556	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 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	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
2	chr11:57366600-57384400	Weak transcription	Pancreas	Pancrea
3	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
6	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
13	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:57374400-57384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:57377200-57384000	Genic enhancers	Liver	Liver
17	chr11:57377200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:57377200-57384400	Strong transcription	Adipose Nuclei	Adipose
19	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
20	chr11:57377400-57384600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:57377400-57384600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:57377600-57387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:57377800-57384200	Strong transcription	Lung	lung
24	chr11:57378000-57384400	Strong transcription	Fetal Stomach	stomach
25	chr11:57378200-57384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:57381200-57386200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:57381200-57386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:57381400-57384200	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:57381600-57384600	Weak transcription	Fetal Kidney	kidney
30	chr11:57381600-57386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:57382000-57391800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:57382200-57383600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:57382200-57385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:57382200-57385600	Weak transcription	Gastric	stomach
35	chr11:57382200-57388600	Weak transcription	Brain Anterior Caudate	brain
36	chr11:57382200-57395000	Weak transcription	Right Ventricle	heart
37	chr11:57382400-57385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:57382400-57385600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:57382400-57385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:57382400-57386200	Weak transcription	Spleen	Spleen
41	chr11:57382600-57385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:57382800-57386800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:57382800-57392600	Weak transcription	Brain Germinal Matrix	brain
44	chr11:57383000-57383800	Weak transcription	Aorta	Aorta
45	chr11:57383000-57384600	Weak transcription	Brain Angular Gyrus	brain
46	chr11:57383000-57385600	Weak transcription	Ovary	ovary
47	chr11:57383000-57386600	Weak transcription	Placenta	Placenta
48	chr11:57383000-57386800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:57383200-57384000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:57383200-57384800	Weak transcription	Fetal Brain Female	brain

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