Variant report

Variant	rs8107342
Chromosome Location	chr19:44324003-44324004
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	chr19:44171987..44174273-chr19:44322847..44324891,2	K562	blood:
2	chr19:44323198..44325701-chr19:44330167..44332994,2	K562	blood:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction
ENSG00000159871	Chromatin interaction
ENSG00000167637	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16976829	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16976868	0.90[AMR][1000 genomes]
rs1906230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248374	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7258717	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44319400-44324200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44321800-44324200	Weak transcription	HSMMtube	muscle
3	chr19:44322200-44324200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:44322200-44324200	Enhancers	NHEK	skin
5	chr19:44322800-44324200	Weak transcription	Esophagus	oesophagus
6	chr19:44323600-44324400	Weak transcription	Ovary	ovary
7	chr19:44323800-44324200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr19:44323800-44324400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr19:44323800-44324800	ZNF genes & repeats	Spleen	Spleen
10	chr19:44324000-44324200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr19:44324000-44324200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:44324000-44324200	Enhancers	Brain Cingulate Gyrus	brain
13	chr19:44324000-44324200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr19:44324000-44324200	Enhancers	Right Ventricle	heart
15	chr19:44324000-44324200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr19:44324000-44324200	Enhancers	HMEC	breast
17	chr19:44324000-44324400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr19:44324000-44324400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:44324000-44324400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr19:44324000-44324400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr19:44324000-44324400	Bivalent/Poised TSS	Fetal Brain Male	brain
22	chr19:44324000-44324400	Enhancers	Placenta	Placenta
23	chr19:44324000-44324600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr19:44324000-44324600	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr19:44324000-44325000	ZNF genes & repeats	Lung	lung
26	chr19:44324000-44325200	ZNF genes & repeats	Liver	Liver
27	chr19:44324000-44325200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
28	chr19:44324000-44325400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44324000-44325400	ZNF genes & repeats	GM12878-XiMat	blood

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