Variant report

Variant	rs73202513
Chromosome Location	chr8:19575436-19575437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10091557	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10109456	0.90[EUR][1000 genomes]
rs55763426	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73202505	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73202509	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73216641	1.00[AMR][1000 genomes]
rs73216645	1.00[AMR][1000 genomes]
rs73216651	1.00[AMR][1000 genomes]
rs73216656	1.00[AMR][1000 genomes]
rs73218618	1.00[AMR][1000 genomes]
rs73218623	1.00[AMR][1000 genomes]
rs73218625	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73218626	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73218631	0.90[EUR][1000 genomes]
rs73218634	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73218638	0.90[EUR][1000 genomes]
rs7828018	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1021225	chr8:19554860-19586580	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19563200-19578200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:19569000-19577600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:19571200-19576200	Weak transcription	Ovary	ovary
4	chr8:19571400-19576800	Weak transcription	Aorta	Aorta
5	chr8:19571600-19577200	Weak transcription	Esophagus	oesophagus
6	chr8:19571800-19576000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:19572000-19577600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:19573200-19575600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:19573200-19576200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr8:19573200-19577600	Enhancers	Primary T cells from cord blood	blood
11	chr8:19573200-19578400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:19573200-19579000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:19573200-19579000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:19573400-19576400	Enhancers	Fetal Thymus	thymus
15	chr8:19573400-19577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:19573600-19575600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:19573600-19576200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:19573600-19576200	Weak transcription	Right Atrium	heart
19	chr8:19573600-19576200	Weak transcription	Hela-S3	cervix
20	chr8:19573800-19576000	Weak transcription	A549	lung
21	chr8:19573800-19577200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:19573800-19577600	Weak transcription	Gastric	stomach
23	chr8:19573800-19578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:19573800-19580000	Weak transcription	Pancreas	Pancrea
25	chr8:19574400-19575800	Weak transcription	Primary B cells from cord blood	blood
26	chr8:19574400-19578200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:19574400-19578200	Enhancers	HMEC	breast
28	chr8:19574400-19578600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:19574800-19578400	Enhancers	Right Ventricle	heart
30	chr8:19574800-19578800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:19574800-19578800	Enhancers	Placenta	Placenta
32	chr8:19575000-19576400	Enhancers	Fetal Brain Male	brain
33	chr8:19575000-19576800	Weak transcription	Fetal Heart	heart
34	chr8:19575000-19578400	Enhancers	Left Ventricle	heart
35	chr8:19575000-19578400	Enhancers	Osteobl	bone
36	chr8:19575200-19575600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:19575200-19575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:19575200-19575800	Enhancers	Spleen	Spleen
39	chr8:19575200-19576200	Weak transcription	Thymus	Thymus
40	chr8:19575200-19576200	Weak transcription	NHEK	skin
41	chr8:19575200-19576400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:19575200-19576800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:19575200-19577600	Enhancers	NH-A	brain
44	chr8:19575200-19578000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:19575400-19575800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:19575400-19576000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr8:19575400-19577400	Enhancers	Primary B cells from peripheral blood	blood
48	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
49	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood

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