Variant report

Variant	rs34249558
Chromosome Location	chr11:86270684-86270685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10898498	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898499	0.89[ASN][1000 genomes]
rs11234696	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11494275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11607733	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364541	0.86[ASN][1000 genomes]
rs12797575	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12797615	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1379872	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1945043	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4943943	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943945	0.96[ASN][1000 genomes]
rs4944592	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934133	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
5	chr11:86264200-86271200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
7	chr11:86266400-86278200	Weak transcription	A549	lung
8	chr11:86267200-86271000	Enhancers	Fetal Heart	heart
9	chr11:86267800-86271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:86268000-86271000	Enhancers	HSMMtube	muscle
11	chr11:86268400-86271000	Enhancers	Right Atrium	heart
12	chr11:86268600-86271400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:86268800-86271000	Enhancers	Right Ventricle	heart
14	chr11:86268800-86271200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:86269000-86271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:86269000-86271000	Enhancers	Fetal Muscle Leg	muscle
17	chr11:86269000-86271000	Enhancers	Left Ventricle	heart
18	chr11:86269000-86271000	Enhancers	Stomach Mucosa	stomach
19	chr11:86269000-86271400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:86269200-86271200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:86269200-86271400	Enhancers	HMEC	breast
22	chr11:86269400-86270800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr11:86269400-86270800	Enhancers	Spleen	Spleen
24	chr11:86269400-86271000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:86269400-86271000	Enhancers	Hela-S3	cervix
26	chr11:86269400-86271200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:86269400-86271200	Enhancers	Fetal Intestine Large	intestine
28	chr11:86269400-86271200	Enhancers	NHDF-Ad	bronchial
29	chr11:86269400-86271400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:86269400-86271400	Enhancers	Ovary	ovary
31	chr11:86269400-86271400	Enhancers	HSMM	muscle
32	chr11:86269400-86271400	Enhancers	HUVEC	blood vessel
33	chr11:86269600-86271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:86269600-86271000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:86269600-86271000	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:86269600-86271000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:86269600-86271200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:86269600-86271400	Enhancers	Fetal Intestine Small	intestine
39	chr11:86269800-86272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:86270000-86271000	Enhancers	Colon Smooth Muscle	Colon
41	chr11:86270000-86271000	Enhancers	Small Intestine	intestine
42	chr11:86270000-86271400	Enhancers	Placenta	Placenta
43	chr11:86270000-86271400	Enhancers	Psoas Muscle	Psoas
44	chr11:86270000-86272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:86270200-86270800	Enhancers	Brain Substantia Nigra	brain
46	chr11:86270200-86270800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:86270200-86271000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:86270200-86271000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:86270200-86271000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:86270200-86271000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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