Variant report

Variant	rs73212558
Chromosome Location	chr8:19338893-19338894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10107533	0.90[ASN][1000 genomes]
rs1014481	0.90[ASN][1000 genomes]
rs1014482	0.90[ASN][1000 genomes]
rs10503650	0.82[ASN][1000 genomes]
rs11777593	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11778525	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780905	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781106	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782907	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782972	0.89[ASN][1000 genomes]
rs11784776	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787032	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11994059	1.00[ASN][1000 genomes]
rs11994933	1.00[ASN][1000 genomes]
rs17128602	0.82[ASN][1000 genomes]
rs17128626	0.90[ASN][1000 genomes]
rs17408078	0.90[ASN][1000 genomes]
rs17408321	0.90[ASN][1000 genomes]
rs17479581	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479749	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480050	0.90[ASN][1000 genomes]
rs4072132	0.84[AFR][1000 genomes]
rs4436140	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4921650	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4921659	0.82[ASN][1000 genomes]
rs4922040	1.00[ASN][1000 genomes]
rs4922042	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922050	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4922054	0.90[ASN][1000 genomes]
rs4922057	0.90[ASN][1000 genomes]
rs4922060	0.82[ASN][1000 genomes]
rs55637382	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647560	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55696969	0.82[ASN][1000 genomes]
rs55851368	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55856414	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889457	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915417	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56155045	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56163568	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321774	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005625	0.90[ASN][1000 genomes]
rs73212568	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212569	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212582	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73212587	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212588	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212595	0.82[ASN][1000 genomes]
rs73212598	0.82[ASN][1000 genomes]
rs73212600	0.82[ASN][1000 genomes]
rs73212602	0.82[ASN][1000 genomes]
rs73214608	0.90[ASN][1000 genomes]
rs73214610	0.90[ASN][1000 genomes]
rs7818871	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819875	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	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
11	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19316200-19339200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
4	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:19333000-19339400	Enhancers	Primary T cells from cord blood	blood
6	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:19334200-19339200	Weak transcription	Fetal Thymus	thymus
8	chr8:19334400-19339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:19334600-19347400	Weak transcription	Right Atrium	heart
10	chr8:19335000-19339400	Weak transcription	Right Ventricle	heart
11	chr8:19335400-19339200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:19335800-19339000	Strong transcription	Primary B cells from cord blood	blood
13	chr8:19336000-19341800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:19336000-19341800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:19336000-19345000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:19336600-19340200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:19336800-19339000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:19336800-19339000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:19337000-19339000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:19337000-19341200	Weak transcription	Adipose Nuclei	Adipose
21	chr8:19337200-19339000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:19337600-19339200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:19337600-19342600	Enhancers	Left Ventricle	heart
24	chr8:19337800-19339400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:19338000-19339000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:19338000-19339000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:19338000-19339000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:19338000-19339000	Enhancers	NHDF-Ad	bronchial
29	chr8:19338000-19339000	Enhancers	NHLF	lung
30	chr8:19338000-19351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:19338200-19339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:19338200-19339000	Enhancers	Aorta	Aorta
33	chr8:19338200-19339400	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:19338200-19340800	Enhancers	Hela-S3	cervix
35	chr8:19338400-19339000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:19338400-19339000	Enhancers	Colon Smooth Muscle	Colon
37	chr8:19338400-19339000	Enhancers	Fetal Stomach	stomach
38	chr8:19338400-19339000	Bivalent Enhancer	HepG2	liver
39	chr8:19338400-19339200	Enhancers	Fetal Lung	lung
40	chr8:19338400-19339400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:19338600-19339000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:19338600-19339000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:19338600-19339400	Enhancers	A549	lung
44	chr8:19338600-19340800	Weak transcription	Placenta	Placenta
45	chr8:19338600-19341000	Weak transcription	NH-A	brain
46	chr8:19338600-19341400	Weak transcription	HSMM	muscle
47	chr8:19338600-19344000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:19338800-19339000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:19338800-19339000	Enhancers	Fetal Intestine Small	intestine
50	chr8:19338800-19339000	Enhancers	Osteobl	bone

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