Variant report

Variant	rs59306014
Chromosome Location	chr8:19583487-19583488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1107613	0.83[ASN][1000 genomes]
rs11787285	0.96[ASN][1000 genomes]
rs1546099	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546100	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17091082	0.94[AFR][1000 genomes]
rs17091198	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28600099	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55732335	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56262940	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59309315	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7460708	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19575400-19587200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:19577400-19586800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:19577600-19585000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:19578000-19584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:19578400-19584600	Weak transcription	Right Ventricle	heart
11	chr8:19578400-19586800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:19578400-19587200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:19578600-19584400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:19578600-19585200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:19578600-19585400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:19578800-19584400	Weak transcription	Right Atrium	heart
17	chr8:19578800-19584600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:19578800-19584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19578800-19588000	Weak transcription	Placenta	Placenta
20	chr8:19579000-19584000	Weak transcription	Fetal Heart	heart
21	chr8:19579000-19587200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:19579200-19585400	Weak transcription	Hela-S3	cervix
23	chr8:19580200-19588200	Weak transcription	Pancreas	Pancrea
24	chr8:19582000-19584400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:19582600-19584000	Strong transcription	A549	lung
26	chr8:19583000-19586400	Enhancers	HUVEC	blood vessel
27	chr8:19583400-19583600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:19583400-19584600	Weak transcription	Left Ventricle	heart
29	chr8:19583400-19586000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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