Variant report

Variant	rs11986293
Chromosome Location	chr8:19596492-19596493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11989937	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11993795	1.00[AMR][1000 genomes]
rs28570547	1.00[AMR][1000 genomes]
rs28594358	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57669168	1.00[AMR][1000 genomes]
rs61477227	1.00[AMR][1000 genomes]
rs7832092	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:19587400-19597000	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:19587400-19602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:19587600-19600800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:19588600-19613400	Weak transcription	Pancreas	Pancrea
7	chr8:19590600-19596600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:19591200-19596800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:19591600-19597000	Weak transcription	Right Atrium	heart
10	chr8:19591600-19597600	Weak transcription	Left Ventricle	heart
11	chr8:19591600-19599800	Weak transcription	Right Ventricle	heart
12	chr8:19591800-19602800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:19592200-19603000	Weak transcription	Hela-S3	cervix
14	chr8:19594400-19599400	Weak transcription	Fetal Heart	heart
15	chr8:19594800-19600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:19595000-19596800	Strong transcription	A549	lung
17	chr8:19595800-19596800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:19595800-19597200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:19596400-19596600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:19596400-19596800	Enhancers	Primary T helper cells PMA-I stimulated	--

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