Variant report

Variant	rs34084512
Chromosome Location	chr5:119789927-119789928
allele	A/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:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10478463	1.00[EUR][1000 genomes]
rs13154776	0.87[EUR][1000 genomes]
rs13164896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71586485	1.00[AMR][1000 genomes];1.00[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119782800-119790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:119783800-119790000	Weak transcription	NHLF	lung
4	chr5:119786200-119793600	Weak transcription	Right Ventricle	heart
5	chr5:119786200-119793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:119787000-119798200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:119787400-119790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:119787400-119793000	Weak transcription	Pancreas	Pancrea
9	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
10	chr5:119787600-119790000	Enhancers	HSMMtube	muscle
11	chr5:119787600-119791000	Enhancers	HSMM	muscle
12	chr5:119788000-119790000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:119788600-119790000	Weak transcription	NH-A	brain
14	chr5:119788800-119790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
16	chr5:119789200-119790000	Enhancers	NHDF-Ad	bronchial
17	chr5:119789200-119790200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:119789200-119791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:119789200-119791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:119789200-119791200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:119789400-119790000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:119789400-119790800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:119789600-119790200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:119789600-119791000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:119789800-119790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:119789800-119790000	Enhancers	Osteobl	bone
27	chr5:119789800-119790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:119789800-119790400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:119789800-119790600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:119789800-119790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:119789800-119790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:119789800-119790800	Enhancers	Fetal Lung	lung

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