Variant report

Variant	rs4758281
Chromosome Location	chr11:8091548-8091549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8085796..8088311-chr11:8090818..8094631,3	K562	blood:
2	chr11:8091175..8092761-chr11:8098490..8100768,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4758277	0.92[ASN][1000 genomes]
rs4758282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758283	0.88[CEU][hapmap]
rs6578921	1.00[CEU][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7102305	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7113729	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7114018	0.92[CEU][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs7932687	0.81[CEU][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
2	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:8085800-8093800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:8087200-8092000	Enhancers	Fetal Heart	heart
5	chr11:8087800-8091600	Enhancers	Right Atrium	heart
6	chr11:8088600-8091600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:8088800-8091600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:8088800-8093600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:8088800-8093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:8089000-8092200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:8089000-8092400	Enhancers	Fetal Stomach	stomach
12	chr11:8089400-8091600	Enhancers	Placenta	Placenta
13	chr11:8089600-8091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:8089600-8091600	Enhancers	Fetal Intestine Small	intestine
15	chr11:8089600-8091600	Enhancers	Fetal Muscle Leg	muscle
16	chr11:8089600-8092800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:8089800-8091600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:8089800-8091600	Enhancers	Fetal Intestine Large	intestine
19	chr11:8089800-8091600	Enhancers	Fetal Lung	lung
20	chr11:8089800-8091600	Enhancers	Ovary	ovary
21	chr11:8089800-8091600	Enhancers	Psoas Muscle	Psoas
22	chr11:8090000-8091600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:8090000-8091600	Enhancers	Liver	Liver
24	chr11:8090000-8091600	Enhancers	Brain Anterior Caudate	brain
25	chr11:8090000-8091600	Flanking Active TSS	Hela-S3	cervix
26	chr11:8090000-8091800	Enhancers	Brain Germinal Matrix	brain
27	chr11:8090000-8091800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr11:8090000-8091800	Enhancers	Fetal Brain Male	brain
29	chr11:8090000-8091800	Enhancers	NH-A	brain
30	chr11:8090000-8092000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:8090200-8091600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:8090600-8091600	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:8090600-8091600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:8090600-8092000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:8090600-8092600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:8090800-8091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:8090800-8091600	Enhancers	Adipose Nuclei	Adipose
38	chr11:8090800-8091600	Enhancers	Stomach Smooth Muscle	stomach
39	chr11:8090800-8091600	Enhancers	NHLF	lung
40	chr11:8090800-8091800	Enhancers	HSMM	muscle
41	chr11:8090800-8092200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:8090800-8092600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:8091000-8091600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:8091000-8091600	Enhancers	Duodenum Mucosa	Duodenum
45	chr11:8091000-8091600	Enhancers	Fetal Kidney	kidney
46	chr11:8091000-8091600	Enhancers	Fetal Thymus	thymus
47	chr11:8091000-8091600	Enhancers	Left Ventricle	heart
48	chr11:8091000-8091800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:8091000-8092000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:8091000-8092200	Enhancers	Brain Hippocampus Middle	brain

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