Variant report

Variant	rs73323146
Chromosome Location	chr8:121762082-121762083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16894417	1.00[EUR][1000 genomes]
rs16894450	1.00[EUR][1000 genomes]
rs16894452	1.00[EUR][1000 genomes]
rs58065721	1.00[EUR][1000 genomes]
rs58181448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73707190	1.00[EUR][1000 genomes]
rs73707199	1.00[EUR][1000 genomes]
rs73707201	1.00[EUR][1000 genomes]
rs73707202	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121745800-121774200	Weak transcription	Fetal Stomach	stomach
2	chr8:121756800-121762600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:121757200-121763800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:121757600-121763000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:121757800-121763400	Enhancers	Liver	Liver
6	chr8:121758200-121768600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:121758200-121774400	Weak transcription	Left Ventricle	heart
8	chr8:121758400-121769200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:121758400-121769400	Weak transcription	HSMM	muscle
10	chr8:121758400-121769400	Weak transcription	NHLF	lung
11	chr8:121758400-121770600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:121758400-121771800	Weak transcription	Pancreas	Pancrea
13	chr8:121758400-121774400	Weak transcription	Lung	lung
14	chr8:121759200-121762600	Enhancers	HepG2	liver
15	chr8:121759400-121763600	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:121759600-121763400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:121759800-121762200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:121759800-121764400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:121760200-121762200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:121760200-121764400	Enhancers	HSMMtube	muscle
21	chr8:121760400-121762600	Enhancers	Dnd41	blood
22	chr8:121760600-121762600	Enhancers	Small Intestine	intestine
23	chr8:121760600-121764400	Enhancers	Psoas Muscle	Psoas
24	chr8:121760800-121762800	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr8:121761000-121762200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr8:121761000-121762200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:121761200-121762200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr8:121761200-121789400	Weak transcription	Fetal Kidney	kidney
29	chr8:121761400-121762200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:121761400-121762200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr8:121761400-121762200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr8:121761400-121762200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:121761400-121762200	Flanking Active TSS	GM12878-XiMat	blood
34	chr8:121761400-121762400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121761400-121762400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr8:121761400-121762600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:121761600-121762200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:121761600-121762200	Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:121761600-121762200	Active TSS	Primary hematopoietic stem cells	blood
40	chr8:121761600-121762200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:121761600-121762200	Active TSS	Thymus	Thymus
42	chr8:121761600-121762400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr8:121761600-121762400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:121761600-121764600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:121761800-121762200	Active TSS	Primary B cells from cord blood	blood
46	chr8:121761800-121764400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr8:121762000-121762200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:121762000-121762200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr8:121762000-121762200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:121762000-121762200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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