Variant report

Variant	rs34222811
Chromosome Location	chr19:41008327-41008328
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41000405..41002766-chr19:41007781..41010013,2	K562	blood:
2	chr19:41003777..41005721-chr19:41007628..41009600,2	K562	blood:
3	chr19:40930551..40933242-chr19:41008150..41009908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197019	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58152093	1.00[AMR][1000 genomes]
rs59062602	1.00[AMR][1000 genomes]
rs59393815	1.00[AMR][1000 genomes]
rs60017323	1.00[AMR][1000 genomes]
rs60481796	1.00[AMR][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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr19:40973400-41017200	Weak transcription	Brain Substantia Nigra	brain
2	chr19:40986800-41018600	Weak transcription	Right Atrium	heart
3	chr19:40994000-41014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:40994000-41018400	Weak transcription	Psoas Muscle	Psoas
5	chr19:40994600-41018200	Weak transcription	Adipose Nuclei	Adipose
6	chr19:41000000-41018200	Weak transcription	Right Ventricle	heart
7	chr19:41002800-41009000	Weak transcription	Fetal Brain Female	brain
8	chr19:41004000-41011800	Weak transcription	Brain Angular Gyrus	brain
9	chr19:41004000-41018400	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:41004200-41008800	Weak transcription	Brain Anterior Caudate	brain
11	chr19:41004200-41009600	Weak transcription	Spleen	Spleen
12	chr19:41004200-41012200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:41004200-41018200	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:41004200-41018600	Weak transcription	Ovary	ovary
15	chr19:41006000-41008600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:41006400-41015800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:41007800-41008800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:41007800-41010000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:41008000-41010800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:41008200-41008400	Enhancers	Brain Germinal Matrix	brain
21	chr19:41008200-41008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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