Variant report

Variant	rs1046628
Chromosome Location	chr11:18300625-18300626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18299832..18302596-chr11:18415012..18417515,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HPS5	hsa-miR-21-5p	chr11:18300605-18300626

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction
HPS5	miRNA target site

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11024599	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12274017	0.85[AFR][1000 genomes]
rs12291480	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12786556	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1869783	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049129	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4267051	0.84[AMR][1000 genomes]

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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:18285600-18308400	Weak transcription	Gastric	stomach
4	chr11:18287400-18303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:18287600-18303000	Weak transcription	Spleen	Spleen
6	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
7	chr11:18287800-18300800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:18287800-18301000	Weak transcription	HSMM	muscle
9	chr11:18290000-18303200	Weak transcription	NHEK	skin
10	chr11:18290000-18303400	Weak transcription	Small Intestine	intestine
11	chr11:18290200-18300800	Weak transcription	Hela-S3	cervix
12	chr11:18290200-18301200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:18291400-18303200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:18291600-18301000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:18291800-18303200	Weak transcription	Brain Angular Gyrus	brain
16	chr11:18291800-18307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:18292000-18303200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:18292000-18303600	Weak transcription	Brain Germinal Matrix	brain
20	chr11:18292000-18308400	Weak transcription	Right Ventricle	heart
21	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:18292400-18303200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:18292400-18303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:18293200-18300800	Weak transcription	HepG2	liver
25	chr11:18293800-18303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:18293800-18304200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:18293800-18306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:18294000-18301000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:18294200-18303000	Weak transcription	Lung	lung
30	chr11:18294200-18303200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:18294400-18301000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:18294600-18301000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:18294600-18302200	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:18295000-18301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:18295200-18300800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:18295200-18308000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:18295400-18303200	Weak transcription	Fetal Kidney	kidney
38	chr11:18295600-18302800	Weak transcription	Thymus	Thymus
39	chr11:18295800-18307800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:18296000-18302600	Weak transcription	Fetal Intestine Small	intestine
41	chr11:18296000-18303200	Weak transcription	Pancreas	Pancrea
42	chr11:18296200-18303000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:18296400-18303400	Weak transcription	K562	blood
44	chr11:18296600-18300800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:18296800-18315400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:18297000-18307200	Weak transcription	Fetal Brain Male	brain
47	chr11:18297400-18300800	Weak transcription	A549	lung
48	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:18297800-18303400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:18298000-18303400	Enhancers	Primary monocytes fromperipheralblood	blood

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