Variant report

Variant	rs4926
Chromosome Location	chr11:57381989-57381990
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	chr11:57380572..57382335-chr11:57394252..57397016,2	K562	blood:
2	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]
rs10896636	0.88[YRI][hapmap]
rs11229063	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229066	0.93[CEU][hapmap];0.85[CHB][hapmap];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	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][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	0.94[CEU][hapmap];0.88[CHB][hapmap];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];0.80[YRI][hapmap]
rs11606677	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]
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];0.80[YRI][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	0.88[CHB][hapmap];0.88[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	0.88[CHB][hapmap];0.88[YRI][hapmap];0.89[ASN][1000 genomes]
rs3824988	0.94[CEU][hapmap];0.88[CHB][hapmap];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]
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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
2	chr11:57366600-57382600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:57366600-57384400	Weak transcription	Pancreas	Pancrea
4	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
7	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:57369800-57383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:57369800-57383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:57372800-57382600	Weak transcription	Fetal Thymus	thymus
14	chr11:57372800-57383200	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:57373000-57383000	Strong transcription	Ovary	ovary
17	chr11:57373000-57383200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
20	chr11:57373800-57383400	Weak transcription	NHLF	lung
21	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:57374400-57384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:57377000-57383200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:57377200-57383200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:57377200-57384000	Genic enhancers	Liver	Liver
27	chr11:57377200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:57377200-57384400	Strong transcription	Adipose Nuclei	Adipose
29	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
30	chr11:57377400-57383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:57377400-57383200	Strong transcription	Colon Smooth Muscle	Colon
32	chr11:57377400-57384600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:57377400-57384600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr11:57377600-57383200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:57377600-57387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:57377800-57384200	Strong transcription	Lung	lung
37	chr11:57378000-57384400	Strong transcription	Fetal Stomach	stomach
38	chr11:57378200-57383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:57378200-57384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:57378800-57382600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:57378800-57382800	Strong transcription	Brain Germinal Matrix	brain
42	chr11:57378800-57383000	Strong transcription	Aorta	Aorta
43	chr11:57378800-57383200	Strong transcription	Left Ventricle	heart
44	chr11:57379000-57382400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:57379000-57382400	Strong transcription	Spleen	Spleen
46	chr11:57379000-57383200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:57379200-57383200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr11:57379200-57383200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr11:57380600-57382400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:57380600-57383000	Strong transcription	Brain Angular Gyrus	brain

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