Variant report

Variant	rs73214649
Chromosome Location	chr8:19480836-19480837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2975409	0.80[AMR][1000 genomes]
rs4922067	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4922069	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56393158	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73214647	0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19468000-19483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:19472200-19481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:19472800-19482400	Weak transcription	Spleen	Spleen
5	chr8:19473000-19481200	Weak transcription	Hela-S3	cervix
6	chr8:19473000-19481400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:19473000-19481800	Weak transcription	HUVEC	blood vessel
8	chr8:19473200-19483600	Enhancers	A549	lung
9	chr8:19474400-19482400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:19475800-19481400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:19476800-19481600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:19477000-19481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:19477200-19482400	Weak transcription	Right Ventricle	heart
14	chr8:19477400-19482400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:19477400-19483000	Weak transcription	Fetal Lung	lung
16	chr8:19477600-19483000	Weak transcription	HepG2	liver
17	chr8:19478200-19484800	Weak transcription	Left Ventricle	heart
18	chr8:19478400-19482400	Weak transcription	Right Atrium	heart
19	chr8:19479400-19485000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:19479600-19481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:19479600-19482200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:19479800-19484000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:19479800-19484400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:19479800-19485200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:19480000-19482200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:19480000-19484800	Enhancers	Primary T cells from cord blood	blood
27	chr8:19480000-19485800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:19480400-19482200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:19480400-19482400	Enhancers	Primary B cells from cord blood	blood
30	chr8:19480600-19481600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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