Variant report

Variant	rs11606677
Chromosome Location	chr11:57383377-57383378
allele	A/G
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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

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]
rs10896633	1.00[JPT][hapmap]
rs11229063	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229066	1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229067	1.00[JPT][hapmap];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]
rs11570190	1.00[JPT][hapmap]
rs11603020	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11605731	1.00[JPT][hapmap]
rs11606706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607056	1.00[JPT][hapmap]
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]
rs12804972	1.00[JPT][hapmap]
rs12805841	1.00[JPT][hapmap]
rs1647395	0.84[ASN][1000 genomes]
rs1647405	1.00[JPT][hapmap]
rs2081361	1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28362934	1.00[YRI][hapmap];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]
rs2847308	1.00[JPT][hapmap]
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	1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs3824988	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs488769	1.00[JPT][hapmap]
rs4926	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499188	1.00[JPT][hapmap]
rs55649513	0.84[ASN][1000 genomes]
rs55920079	0.84[ASN][1000 genomes]
rs576859	1.00[JPT][hapmap]
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	1.00[JPT][hapmap];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]
rs9420	1.00[JPT][hapmap]

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:67 , 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	chr11:57369800-57383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:57369800-57383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
15	chr11:57373800-57383400	Weak transcription	NHLF	lung
16	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:57374400-57384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:57377200-57384000	Genic enhancers	Liver	Liver
20	chr11:57377200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:57377200-57384400	Strong transcription	Adipose Nuclei	Adipose
22	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
23	chr11:57377400-57384600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:57377400-57384600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:57377600-57387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:57377800-57384200	Strong transcription	Lung	lung
27	chr11:57378000-57384400	Strong transcription	Fetal Stomach	stomach
28	chr11:57378200-57384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:57381000-57383400	Weak transcription	Fetal Brain Male	brain
30	chr11:57381200-57386200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:57381200-57386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:57381400-57384200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:57381600-57384600	Weak transcription	Fetal Kidney	kidney
34	chr11:57381600-57386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:57382000-57391800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:57382200-57383600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:57382200-57385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:57382200-57385600	Weak transcription	Gastric	stomach
39	chr11:57382200-57388600	Weak transcription	Brain Anterior Caudate	brain
40	chr11:57382200-57395000	Weak transcription	Right Ventricle	heart
41	chr11:57382400-57385200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:57382400-57385600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:57382400-57385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:57382400-57386200	Weak transcription	Spleen	Spleen
45	chr11:57382600-57385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:57382800-57386800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:57382800-57392600	Weak transcription	Brain Germinal Matrix	brain
48	chr11:57383000-57383800	Weak transcription	Aorta	Aorta
49	chr11:57383000-57384600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:57383000-57385600	Weak transcription	Ovary	ovary

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