Variant report

Variant	rs529838
Chromosome Location	chr11:57529028-57529029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10444364	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10750868	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	1.00[AMR][1000 genomes]
rs1313360	1.00[ASN][1000 genomes]
rs1553827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2860261	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34430954	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs474073	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474464	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	1.00[ASN][1000 genomes]
rs523739	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs542777	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs554140	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557051	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57201273	1.00[ASN][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	1.00[ASN][1000 genomes]
rs58851976	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs627861	1.00[ASN][1000 genomes]
rs635663	1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7105331	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122105	0.87[AMR][1000 genomes]
rs7131175	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73474476	1.00[ASN][1000 genomes]
rs73482748	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57513600-57529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57513600-57531200	Weak transcription	Gastric	stomach
3	chr11:57514200-57530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:57514800-57529200	Weak transcription	Lung	lung
5	chr11:57514800-57529200	Weak transcription	Thymus	Thymus
6	chr11:57516600-57529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:57524000-57529400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:57527000-57529400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:57528600-57529800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:57528600-57530800	Active TSS	Liver	Liver
11	chr11:57528600-57531200	Active TSS	Adipose Nuclei	Adipose
12	chr11:57528600-57531400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:57528600-57531400	Active TSS	NHEK	skin
14	chr11:57528600-57531600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:57528600-57531600	Active TSS	GM12878-XiMat	blood
16	chr11:57528600-57531800	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:57528600-57531800	Active TSS	NHDF-Ad	bronchial
18	chr11:57528600-57532000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:57528600-57532000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:57528600-57532000	Active TSS	Fetal Lung	lung
21	chr11:57528600-57532000	Active TSS	HMEC	breast
22	chr11:57528600-57532200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:57528600-57532200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:57528600-57532200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:57528600-57532200	Active TSS	Fetal Stomach	stomach
26	chr11:57528600-57532400	Active TSS	Fetal Brain Female	brain
27	chr11:57528600-57533400	Active TSS	Rectal Smooth Muscle	rectum
28	chr11:57528800-57529200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:57528800-57529200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:57528800-57529200	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:57528800-57529200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:57528800-57529800	Active TSS	Primary B cells from cord blood	blood
33	chr11:57528800-57530000	Active TSS	Primary hematopoietic stem cells	blood
34	chr11:57528800-57530400	Active TSS	Pancreas	Pancrea
35	chr11:57528800-57530800	ZNF genes & repeats	Fetal Brain Male	brain
36	chr11:57528800-57531200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:57528800-57531200	Active TSS	Brain Hippocampus Middle	brain
38	chr11:57528800-57531200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr11:57528800-57531200	Active TSS	Fetal Thymus	thymus
40	chr11:57528800-57531400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:57528800-57531600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:57528800-57531600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:57528800-57531600	Active TSS	Psoas Muscle	Psoas
44	chr11:57528800-57531600	Active TSS	Osteobl	bone
45	chr11:57528800-57531800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr11:57528800-57531800	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:57528800-57531800	Active TSS	A549	lung
48	chr11:57528800-57532000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:57528800-57532000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr11:57528800-57532000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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