Variant report

Variant	rs56398366
Chromosome Location	chr5:119785192-119785193
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119784118..119786225-chr5:119788090..119789969,2	K562	blood:
2	chr5:119775909..119777540-chr5:119783720..119785397,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10036322	0.83[ASN][1000 genomes]
rs1368190	0.83[EUR][1000 genomes]
rs1432462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1432463	0.86[ASN][1000 genomes]
rs1503928	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1503929	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146602	0.84[EUR][1000 genomes]
rs17146628	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146635	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17146644	0.85[EUR][1000 genomes]
rs17422462	0.82[EUR][1000 genomes]
rs17424128	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17488124	0.82[EUR][1000 genomes]
rs17489056	0.83[EUR][1000 genomes]
rs17489517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489671	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17489720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2116608	0.83[EUR][1000 genomes]
rs57401201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58699148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58831848	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60249515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61113370	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6595233	0.83[EUR][1000 genomes]
rs6650983	0.83[EUR][1000 genomes]
rs66523245	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72784190	0.84[EUR][1000 genomes]
rs72784191	0.85[EUR][1000 genomes]
rs72784195	0.84[EUR][1000 genomes]
rs72784197	0.86[EUR][1000 genomes]
rs72784200	0.84[EUR][1000 genomes]
rs72784201	0.83[EUR][1000 genomes]
rs72784202	0.89[EUR][1000 genomes]
rs72786208	0.86[EUR][1000 genomes]
rs72786214	0.83[EUR][1000 genomes]
rs72786216	0.83[EUR][1000 genomes]
rs72786223	0.86[EUR][1000 genomes]
rs72786224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786225	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786226	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786237	0.86[ASN][1000 genomes]
rs7730105	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7734475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
2	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:119780800-119786200	Enhancers	HSMM	muscle
4	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
5	chr5:119782000-119785800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:119782200-119785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:119782600-119786200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:119782800-119790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:119783200-119785200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:119783800-119789200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:119783800-119790000	Weak transcription	NHLF	lung
13	chr5:119784000-119785200	Weak transcription	Fetal Heart	heart
14	chr5:119784000-119788000	Weak transcription	NH-A	brain
15	chr5:119784400-119787000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:119784600-119786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:119784800-119785600	Enhancers	NHDF-Ad	bronchial
18	chr5:119784800-119785800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:119785000-119785600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:119785000-119785600	Enhancers	Osteobl	bone
21	chr5:119785000-119786200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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