Variant report

Variant	rs55732335
Chromosome Location	chr8:19587043-19587044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1107613	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11787285	0.99[ASN][1000 genomes]
rs1546099	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546100	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091082	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17091198	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600099	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56262940	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59306014	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59309315	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7460708	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:37 , 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	chr8:19577600-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:19578400-19587200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:19578800-19588000	Weak transcription	Placenta	Placenta
9	chr8:19579000-19587200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:19580200-19588200	Weak transcription	Pancreas	Pancrea
11	chr8:19583600-19592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:19584000-19587200	Enhancers	Fetal Heart	heart
13	chr8:19584000-19589000	Weak transcription	Fetal Lung	lung
14	chr8:19584400-19588000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:19584400-19589400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr8:19584800-19587200	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:19585400-19588000	Strong transcription	Hela-S3	cervix
18	chr8:19585400-19588400	Weak transcription	Esophagus	oesophagus
19	chr8:19585400-19591200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:19585600-19587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:19585600-19587200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:19585600-19587200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:19585800-19588200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:19586000-19587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:19586000-19587400	Enhancers	A549	lung
26	chr8:19586200-19587200	Weak transcription	Right Ventricle	heart
27	chr8:19586200-19587800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:19586600-19588000	Genic enhancers	Primary T cells from cord blood	blood
29	chr8:19586600-19588200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:19586600-19588600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:19586800-19587400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:19586800-19587400	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:19586800-19587400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr8:19586800-19587600	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:19586800-19587600	Enhancers	Right Atrium	heart
36	chr8:19586800-19589000	Enhancers	Left Ventricle	heart
37	chr8:19587000-19587400	Enhancers	Brain Hippocampus Middle	brain

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