Variant report

Variant	rs73214643
Chromosome Location	chr8:19458212-19458213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10888166	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11204057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4244454	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4631480	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4633073	1.00[ASN][1000 genomes]
rs58499968	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59047686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59296505	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016845	1.00[ASN][1000 genomes]
rs73214644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831489	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7841402	1.00[ASN][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	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking 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
11	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19437800-19459600	Weak transcription	Right Ventricle	heart
2	chr8:19439000-19458600	Weak transcription	Brain Anterior Caudate	brain
3	chr8:19445600-19459600	Weak transcription	Placenta	Placenta
4	chr8:19445600-19461400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:19448000-19459800	Weak transcription	Gastric	stomach
7	chr8:19451000-19459800	Weak transcription	Lung	lung
8	chr8:19451800-19459200	Weak transcription	NHLF	lung
9	chr8:19453600-19459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:19453800-19458600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:19454000-19458400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:19454200-19460800	Weak transcription	Hela-S3	cervix
13	chr8:19455600-19459200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:19455800-19459800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:19456600-19459000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:19456600-19459000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:19456800-19458600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:19456800-19459200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:19457400-19460400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:19457600-19459000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:19457600-19459000	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:19457600-19459000	Weak transcription	Brain Substantia Nigra	brain
24	chr8:19457600-19460400	Active TSS	Brain Angular Gyrus	brain
25	chr8:19457600-19465000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:19457600-19472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:19457800-19459000	Enhancers	Fetal Lung	lung
28	chr8:19457800-19459200	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:19457800-19459600	Weak transcription	Left Ventricle	heart
30	chr8:19458000-19458600	Weak transcription	Ovary	ovary
31	chr8:19458000-19459000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:19458000-19459200	Enhancers	Primary B cells from cord blood	blood
33	chr8:19458000-19459400	Enhancers	Primary T cells from cord blood	blood
34	chr8:19458000-19459400	Weak transcription	Right Atrium	heart
35	chr8:19458000-19459600	Weak transcription	Aorta	Aorta
36	chr8:19458200-19458600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:19458200-19459200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:19458200-19459200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr8:19458200-19459200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:19458200-19460400	Active TSS	A549	lung

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